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1. Sampieri K, Amenduni M, Papa FT, Katzaki E, Mencarelli MA, Marozza A, Epistolato MC, Toti P, Lazzi S, Bruttini M, De Filippis R, De Francesco S, Longo I, Meloni I, Mari F, Acquaviva A, Hadjistilianou T, Renieri A, Ariani F: Array comparative genomic hybridization in retinoma and retinoblastoma tissues. Cancer Sci; 2009 Mar;100(3):465-71
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Array comparative genomic hybridization in retinoma and retinoblastoma tissues.
  • Two unilateral cases also showed areas of retinoma.
  • In one retinoma case ophthalmoscopically diagnosed as a benign lesion no rearrangements were detected, whereas the adjacent retinoblastoma displayed seven aberrations.
  • The other retinoma case identified by retrospective histopathological examination shared three rearrangements with the adjacent retinoblastoma.
  • Two other gene-free rearrangements were retinoma specific.
  • Genomic profiling indicated that the first retinoma was a pretumoral lesion, whereas the other represents a subclone of cells bearing 'benign' rearrangements overwhelmed by another subclone presenting aberrations with higher 'oncogenic' potential.
  • This is the first report of genomic profiling in retinoma tissue, shedding light on the different nature of lesions named 'retinoma'.
  • [MeSH-major] Genes, Retinoblastoma. Retinal Neoplasms / genetics. Retinoblastoma / genetics. Retinoblastoma Protein / genetics

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  • (PMID = 19183342.001).
  • [ISSN] 1349-7006
  • [Journal-full-title] Cancer science
  • [ISO-abbreviation] Cancer Sci.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Antibodies, Anti-Idiotypic; 0 / Retinoblastoma Protein
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2. Abouzeid H, Schorderet DF, Balmer A, Munier FL: Germline mutations in retinoma patients: relevance to low-penetrance and low-expressivity molecular basis. Mol Vis; 2009;15:771-7
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  • [Title] Germline mutations in retinoma patients: relevance to low-penetrance and low-expressivity molecular basis.
  • PURPOSE: To study phenotype-genotype correlation in patients who have retinoma, which is a benign tumor resembling the post irradiation regression pattern of retinoblastoma (RB).
  • METHODS: We selected patients who had retinoma and positive family history for RB and patients who had retinoma in one eye and either retinoma or RB in the other eye.
  • There was no correlation between the type of mutation and the number of tumor foci per eye (RB or retinomas).
  • CONCLUSIONS: To our knowledge, this study is the largest series of mutations of consecutive retinoma patients.
  • The present data suggest that the type of inherited mutations underlying retinoma is undistinguishable from RB related ones, i.e., largely dominated by truncating mutants.
  • The molecular mechanism underlying low-penetrance and attenuated expressivity (retinomas) appeared to be distinct.
  • [MeSH-major] Germ-Line Mutation. Retinal Neoplasms / genetics. Retinoblastoma / genetics. Retinoblastoma Protein / genetics

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  • (PMID = 19390654.001).
  • [ISSN] 1090-0535
  • [Journal-full-title] Molecular vision
  • [ISO-abbreviation] Mol. Vis.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Retinoblastoma Protein
  • [Other-IDs] NLM/ PMC2671583
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3. Kiratli H, Bilgiç S: [Multiple bilateral retinomas. A case study]. J Fr Ophtalmol; 2006 Jan;29(1):58-60

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  • [Title] [Multiple bilateral retinomas. A case study].
  • The case of an asymptomatic 29-year-old male patient with bilateral multiple retinomas is described.
  • Timely and correct diagnosis of retinoma is essential for appropriate genetic counseling, which would minimize the risk of retinoblastoma in future generations.
  • [MeSH-major] Retinal Neoplasms / pathology

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  • (PMID = 16465126.001).
  • [ISSN] 1773-0597
  • [Journal-full-title] Journal français d'ophtalmologie
  • [ISO-abbreviation] J Fr Ophtalmol
  • [Language] fre
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] France
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4. Kase S, Parikh JG, Rao NA: Expression of alpha-crystallin in retinoblastoma. Arch Ophthalmol; 2009 Feb;127(2):187-92
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • OBJECTIVE: To examine the expression of alpha-crystallin, a small heat-shock protein family, and apoptosis in retinal neoplastic cells.
  • METHODS: Thirteen enucleated globes were included in this study, 1 with retinocytoma and 12 with retinoblastoma.
  • RESULTS: In the retinocytoma, alphaA-crystallin was expressed in the cytoplasm of all tumor cells, whereas alphaB-crystallin immunoreactivity was only weakly positive.
  • Apoptotic cells were rarely noted in retinocytoma cells; the apoptotic index was 0.29.

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  • (PMID = 19204237.001).
  • [ISSN] 1538-3601
  • [Journal-full-title] Archives of ophthalmology (Chicago, Ill. : 1960)
  • [ISO-abbreviation] Arch. Ophthalmol.
  • [Language] ENG
  • [Grant] United States / NEI NIH HHS / EY / EY003040-189004; United States / NEI NIH HHS / EY / EY015714; United States / NEI NIH HHS / EY / P30 EY003040; United States / NEI NIH HHS / EY / EY03040; United States / NEI NIH HHS / EY / R01 EY015714; United States / NEI NIH HHS / EY / P30 EY003040-189004
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / alpha-Crystallin A Chain; 0 / alpha-Crystallin B Chain
  • [Other-IDs] NLM/ NIHMS105105; NLM/ PMC2669080
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5. Dimaras H, Gallie BL: The p75 NTR neurotrophin receptor is a tumor suppressor in human and murine retinoblastoma development. Int J Cancer; 2008 May 01;122(9):2023-9
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  • The transition from the benign retinal tumor retinoma to its malignant counterpart retinoblastoma is accompanied by the loss of expression of the p75(NTR) neurotrophin receptor.
  • The average tumor area per eye as a percentage of retinal area was measured.
  • [MeSH-major] Receptor, Nerve Growth Factor / metabolism. Retinal Neoplasms / metabolism. Retinoblastoma / metabolism. Tumor Suppressor Proteins / metabolism

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  • [Copyright] (c) 2008 Wiley-Liss, Inc.
  • (PMID = 18196575.001).
  • [ISSN] 1097-0215
  • [Journal-full-title] International journal of cancer
  • [ISO-abbreviation] Int. J. Cancer
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / R01 CA118830
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Receptor, Nerve Growth Factor; 0 / Tumor Suppressor Proteins; EC 3.4.22.- / Caspase 3
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6. Naseripour M, Falavarjani KG, Akbarzadeh S: Retinocytoma associated with bilateral retinoblastoma. Indian J Ophthalmol; 2010 Mar-Apr;58(2):155-6
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  • [Title] Retinocytoma associated with bilateral retinoblastoma.
  • Funduscopy demonstrated a retinocytoma associated with five discrete retinoblastomas in the left eye and three discrete retinoblastomas in her right eye.
  • [MeSH-major] Neoplasms, Multiple Primary / pathology. Retinal Neoplasms / pathology. Retinoblastoma / pathology

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  • [Cites] Arch Ophthalmol. 2000 Feb;118(2):199-205 [10676785.001]
  • [Cites] Br J Cancer. 1982 Apr;45(4):513-21 [7073943.001]
  • [Cites] Am J Ophthalmol. 1983 Sep;96(3):315-20 [6614111.001]
  • [Cites] Arch Ophthalmol. 1983 Oct;101(10):1517-8 [6626000.001]
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  • (PMID = 20195043.001).
  • [ISSN] 1998-3689
  • [Journal-full-title] Indian journal of ophthalmology
  • [ISO-abbreviation] Indian J Ophthalmol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] India
  • [Other-IDs] NLM/ PMC2854451
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7. Marback EF, Sampaio MD, Oliveira RD, Marback RL: [Retinocytoma: report of five cases]. Arq Bras Oftalmol; 2009 Sep-Oct;72(5):719-22

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Retinocytoma: report of five cases].
  • [Transliterated title] Retinocitoma: relato de cinco casos.
  • Five retinocytoma cases diagnosed over 75 months are reported.
  • Clinical and ophthalmoscopic aspects, genetical implications and the need of treatment and continuous follow-up of retinocytoma patients are discussed.
  • [MeSH-major] Retinal Neoplasms / pathology. Retinoblastoma / pathology

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  • (PMID = 20027418.001).
  • [ISSN] 1678-2925
  • [Journal-full-title] Arquivos brasileiros de oftalmologia
  • [ISO-abbreviation] Arq Bras Oftalmol
  • [Language] por
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Brazil
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8. Sampieri K, Mencarelli MA, Epistolato MC, Toti P, Lazzi S, Bruttini M, De Francesco S, Longo I, Meloni I, Mari F, Acquaviva A, Hadjistilianou T, Renieri A, Ariani F: Genomic differences between retinoma and retinoblastoma. Acta Oncol; 2008;47(8):1483-92
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  • [Title] Genomic differences between retinoma and retinoblastoma.
  • INTRODUCTION: Genomic copy number changes are involved in the multi-step process transforming normal retina in retinoblastoma after RB1 mutational events.
  • Retinoma is a benign variant of retinoblastoma that was initially considered a tumor regression, but recent evidences suggest that it rather represents a pre-malignant lesion.
  • Genetic studies on retinoma tissue have rarely been performed.
  • MATERIALS AND METHODS: We investigated by Real-Time qPCR, copy number changes of candidate genes located within the 4 hot-spot regions (MDM4 at 1q32.1, MYCN at 2p24.1, E2F3 at 6p22 and CDH11 at 16q22) in retina, retinoma and retinoblastoma tissues from two different patients.
  • RESULTS: Our results demonstrated that some copy number changes thought to belong to early (MDM4 gain) or late stage (MYCN and E2F3 gain) of retinoblastoma are already present in retinoma at the same (for MDM4) or at lower (for MYCN and E2F3) copy number variation respect to retinoblastoma.
  • CDH11 copy number is not altered in the two retinoma samples, but gain is present in one of the two retinoblastomas.
  • DISCUSSION: Our results suggest that MDM4 gain may be involved in the early transition from normal retina to retinoma, while MYCN and E2F3 progressive gain may represent driving factors of tumor progression.
  • These results also confirm the pre-malignant nature of retinoma.
  • [MeSH-major] Genetic Markers / genetics. Precancerous Conditions / genetics. Retina / pathology. Retinal Neoplasms / genetics. Retinoblastoma / genetics

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  • (PMID = 18785023.001).
  • [ISSN] 1651-226X
  • [Journal-full-title] Acta oncologica (Stockholm, Sweden)
  • [ISO-abbreviation] Acta Oncol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Norway
  • [Chemical-registry-number] 0 / Cadherins; 0 / E2F3 Transcription Factor; 0 / E2F3 protein, human; 0 / Genetic Markers; 0 / MDM4 protein, human; 0 / MYCN protein, human; 0 / Nuclear Proteins; 0 / Oncogene Proteins; 0 / Proto-Oncogene Proteins; 156621-71-5 / osteoblast cadherin
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9. Dimaras H, Khetan V, Halliday W, Orlic M, Prigoda NL, Piovesan B, Marrano P, Corson TW, Eagle RC Jr, Squire JA, Gallie BL: Loss of RB1 induces non-proliferative retinoma: increasing genomic instability correlates with progression to retinoblastoma. Hum Mol Genet; 2008 May 15;17(10):1363-72
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  • [Title] Loss of RB1 induces non-proliferative retinoma: increasing genomic instability correlates with progression to retinoblastoma.
  • We now demonstrate that loss of both RB1 tumor suppressor gene alleles initiates quiescent RB1(-/-) retinomas with low level genomic instability and high expression of the senescence-associated proteins p16(INK4a) and p130.
  • Although retinomas can remain unchanged throughout life, highly proliferative, clonal and aneuploid retinoblastomas commonly emerge, exhibiting altered gene copy number and expression of oncogenes (MYCN, E2F3, DEK, KIF14 and MDM4) and tumor suppressor genes (CDH11, p75(NTR)) and reduced expression of p16(INK4a) and p130.
  • We suggest that RB1 inactivation in developing retina induces genomic instability, but senescence can block transformation at the stage of retinoma.
  • However, stable retinoma is rarely clinically observed because progressive genomic instability commonly leads to highly proliferative retinoblastoma.

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  • (PMID = 18211953.001).
  • [ISSN] 1460-2083
  • [Journal-full-title] Human molecular genetics
  • [ISO-abbreviation] Hum. Mol. Genet.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Cyclin-Dependent Kinase Inhibitor p16; 0 / Ki-67 Antigen; 0 / Oncogene Proteins; 0 / Proliferating Cell Nuclear Antigen; 0 / Retinoblastoma Protein; 0 / Retinoblastoma-Like Protein p130; 0 / TP53 protein, human; 0 / Tumor Suppressor Protein p53; 0 / Tumor Suppressor Proteins
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10. Theodossiadis P, Emfietzoglou I, Grigoropoulos V, Moschos M, Theodossiadis GP: Evolution of a retinoma case in 21 years. Ophthalmic Surg Lasers Imaging; 2005 Mar-Apr;36(2):155-7

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Evolution of a retinoma case in 21 years.
  • A 35-year-old man was observed during a 21-year period with fundus color photography, fluorescein angiography, and B-scan ultrasonography for a presumed retinoma detected in his left eye during routine ophthalmoscopy in 1982.
  • His retinal lesion remained stable during the follow-up period without signs of malignant transformation.
  • Retinomas are most commonly observed in patients with retinoblastoma and their relatives.
  • In this case, none of the patient's parents, siblings, or children had evidence of a retinal tumor.
  • Photographic documentation of the nonprogressive nature of this presumed retinoma is provided and demonstrates the absence of growth.
  • [MeSH-major] Retinal Neoplasms / pathology. Retinoblastoma / pathology

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  • (PMID = 15792319.001).
  • [ISSN] 1542-8877
  • [Journal-full-title] Ophthalmic surgery, lasers & imaging : the official journal of the International Society for Imaging in the Eye
  • [ISO-abbreviation] Ophthalmic Surg Lasers Imaging
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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11. Wei W, Mo J, Jie Y, Li B: Adenoma of the retinal pigment epithelium: a report of 3 cases. Can J Ophthalmol; 2010 Apr;45(2):166-70
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Adenoma of the retinal pigment epithelium: a report of 3 cases.
  • OBJECTIVE: To report the clinical manifestations and pathologic features of adenoma of the retinal pigment epithelium (RPE).
  • CONCLUSIONS: RPE-derived adenoma is difficult to diagnose clinically.

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  • (PMID = 20379304.001).
  • [ISSN] 1715-3360
  • [Journal-full-title] Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
  • [ISO-abbreviation] Can. J. Ophthalmol.
  • [Language] ENG
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Biomarkers, Tumor; 0 / Coloring Agents; IX6J1063HV / Indocyanine Green
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12. Abdolrahimzadeh S, Garzione F, Cruciani F, Rahimi S: Incidental finding of double nodular microscopic hyperplasia versus adenoma of the retinal pigment epithelium in an eye eviscerated for phthisis bulbi. Clin Ter; 2010;161(5):449-51

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Incidental finding of double nodular microscopic hyperplasia versus adenoma of the retinal pigment epithelium in an eye eviscerated for phthisis bulbi.
  • Neoplasms of the retinal pigment epithelium (RPE) are very rare and can clinically simulate choroidal melanoma.
  • [MeSH-major] Adenoma / pathology. Retinal Neoplasms / pathology. Retinal Pigment Epithelium / pathology

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  • (PMID = 20949242.001).
  • [ISSN] 1972-6007
  • [Journal-full-title] La Clinica terapeutica
  • [ISO-abbreviation] Clin Ter
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Italy
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13. Chung J, Turaka K, Shields CL: Retinocytoma shows lack of response to chemoreduction. J Pediatr Ophthalmol Strabismus; 2010;47 Online:e1-3
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  • [Title] Retinocytoma shows lack of response to chemoreduction.
  • The authors report a case of retinocytoma showing no response to chemoreduction.
  • After the first cycle of chemotherapy (vincristine [0.9 mg/m(2)], carboplatin [336 mg/m(2)], and etoposide [90 mg/m(2)]), there was remarkable reduction in the tumor size in the left eye, whereas the right eye tumors did not regress and were diagnosed as retinocytomas/retinomas.
  • Retinocytoma/retinoma shows little to no response to chemoreduction.
  • [MeSH-major] Antineoplastic Combined Chemotherapy Protocols / therapeutic use. Neoplasm Seeding. Retinal Neoplasms / drug therapy. Retinoblastoma / drug therapy

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  • [Copyright] Copyright 2010, SLACK Incorporated.
  • (PMID = 21175116.001).
  • [ISSN] 1938-2405
  • [Journal-full-title] Journal of pediatric ophthalmology and strabismus
  • [ISO-abbreviation] J Pediatr Ophthalmol Strabismus
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 5J49Q6B70F / Vincristine; 6PLQ3CP4P3 / Etoposide; BG3F62OND5 / Carboplatin; CEV regimen
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14. Eagle RC Jr: High-risk features and tumor differentiation in retinoblastoma: a retrospective histopathologic study. Arch Pathol Lab Med; 2009 Aug;133(8):1203-9
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  • OBJECTIVES: To determine the frequency of histopathologic risk factors in a large series of retinoblastomas treated by enucleation on file in the pathology laboratory of a large American eye hospital, assess the relationship between tumor differentiation and age at enucleation, and investigate the frequency of photoreceptor differentiation and the role of retinoma/retinocytoma as retinoblastoma precursor.
  • Both preceding observations provide evidence for the hypothetical role of retinoma as a retinoblastoma precursor.
  • Retinoblastomas become progressively less differentiated with time and may be spawned by precursor retinomas.
  • [MeSH-major] Retinal Neoplasms / pathology. Retinoblastoma / pathology

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  • (PMID = 19653710.001).
  • [ISSN] 1543-2165
  • [Journal-full-title] Archives of pathology & laboratory medicine
  • [ISO-abbreviation] Arch. Pathol. Lab. Med.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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15. Shields JA, Eagle RC Jr, Shields CL, Brown GC, Lally SE: Malignant transformation of congenital hypertrophy of the retinal pigment epithelium. Ophthalmology; 2009 Nov;116(11):2213-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Malignant transformation of congenital hypertrophy of the retinal pigment epithelium.
  • PURPOSE: To report a clinicopathologic correlation of an adenocarcinoma that arose from solitary congenital hypertrophy of the retinal pigment epithelium (CHRPE).
  • It had features typical of CHRPE, but there was a small elevated nodule within the flat component, and the diagnosis was adenoma of the retinal pigment epithelium (RPE) arising from CHRPE.
  • The nodule slowly enlarged, and increasing amounts of lipoproteinaceous exudation accumulated in the adjacent retina.
  • Ultrasonography revealed a total retinal detachment and a pedunculated tumor measuring 7.5 mm in thickness.
  • CONCLUSIONS: Congenital hypertrophy of the retinal pigment epithelium, once considered to be a benign and stationary lesion, may spawn a malignant neoplasm.
  • [MeSH-major] Adenocarcinoma / pathology. Cell Transformation, Neoplastic / pathology. Retinal Neoplasms / pathology. Retinal Pigment Epithelium / pathology
  • [MeSH-minor] Eye Enucleation. Female. Humans. Hypertrophy / congenital. Middle Aged. Retinal Detachment / pathology. Retinal Detachment / ultrasonography

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  • (PMID = 19744732.001).
  • [ISSN] 1549-4713
  • [Journal-full-title] Ophthalmology
  • [ISO-abbreviation] Ophthalmology
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
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16. Nichols KE, Walther S, Chao E, Shields C, Ganguly A: Recent advances in retinoblastoma genetic research. Curr Opin Ophthalmol; 2009 Sep;20(5):351-5
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  • RECENT FINDINGS: Current data demonstrate that retinomas, benign retinal tumors found in some retinoblastoma patients, exhibit bi-allelic mutations in RB1, the retinoblastoma gene, and lack of expression of the retinoblastoma protein.
  • Interestingly, retinomas demonstrate a low level of genomic instability that becomes progressively more severe in retinoblastoma tumors.
  • Additionally, a subset of retinomas share genomic alterations with retinoblastoma.
  • Collectively, these data suggest that retinomas represent true premalignant lesions and not regressed retinoblastoma tumors, as previously thought.
  • [MeSH-major] Retinal Neoplasms / genetics. Retinoblastoma / genetics

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  • (PMID = 19587599.001).
  • [ISSN] 1531-7021
  • [Journal-full-title] Current opinion in ophthalmology
  • [ISO-abbreviation] Curr Opin Ophthalmol
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / 1R01CA118580-01A2; United States / NCI NIH HHS / CA / R21 CA123196-01
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Retinoblastoma Protein
  • [Number-of-references] 46
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17. Dimaras H, Coburn B, Pajovic S, Gallie BL: Loss of p75 neurotrophin receptor expression accompanies malignant progression to human and murine retinoblastoma. Mol Carcinog; 2006 May;45(5):333-43
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • We studied the expression of pro-apoptotic neurotrophin receptor p75 (p75(NTR)) in human and murine retinoblastoma, compared to normal retina, and examined changes in p75(NTR) expression with the onset of apoptosis in the course of murine retinoblastoma progression, using immunohistochemistry and quantitative real-time RT-PCR.
  • The murine retinoblastoma is induced by retinal specific expression of SV40 T-antigen (TAg), which blocks the function of the retinoblastoma protein (pRB) and related proteins, and is a well-studied model that closely simulates human retinoblastoma.
  • The majority of human retinoblastoma either lacked or expressed decreased levels of p75(NTR) mRNA, compared to human retina.
  • Moreover, p75(NTR) protein was not detected in any tumor studied, unlike normal retina.
  • Furthermore, in three rare human eyes containing retinoblastoma adjacent to regions resembling the benign retinal tumor retinoma, both normal retina and retinoma-like tissue expressed p75(NTR) protein, while the retinoblastoma did not.
  • We suggest that p75(NTR) loss accompanies progression from retinoma to retinoblastoma.
  • [MeSH-major] Receptor, Nerve Growth Factor / metabolism. Retinal Neoplasms / metabolism. Retinoblastoma / metabolism
  • [MeSH-minor] Animals. Antigens, Polyomavirus Transforming / metabolism. Apoptosis. Caspase 3. Caspases / metabolism. Disease Progression. Enzyme Activation. Humans. Mice. Mice, Inbred C57BL. Retina / cytology. Retina / metabolism. Retinoblastoma Protein / genetics. Retinoblastoma Protein / metabolism. Reverse Transcriptase Polymerase Chain Reaction. Tumor Cells, Cultured

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  • [Copyright] (c) 2006 Wiley-Liss, Inc.
  • (PMID = 16555252.001).
  • [ISSN] 0899-1987
  • [Journal-full-title] Molecular carcinogenesis
  • [ISO-abbreviation] Mol. Carcinog.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Antigens, Polyomavirus Transforming; 0 / Receptor, Nerve Growth Factor; 0 / Retinoblastoma Protein; EC 3.4.22.- / CASP3 protein, human; EC 3.4.22.- / Casp3 protein, mouse; EC 3.4.22.- / Caspase 3; EC 3.4.22.- / Caspases
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18. Schefler AC, Abramson DH: Retinoblastoma: what is new in 2007-2008. Curr Opin Ophthalmol; 2008 Nov;19(6):526-34
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • RECENT FINDINGS: The most significant recent findings in the molecular biology of retinoblastoma include the evidence for aneuploidy and genomic instability as cancer causes rather than the long-held Knudson's 'two-hit' hypothesis; the evidence that retinoma may represent a precursor lesion for retinoblastoma prior to the acquisition of genomic instability; and the evidence that a horizontal interneuron may be the cell of origin in murine knockout retinoblastoma and may be capable of clonal expansion after differentiation.
  • [MeSH-major] Retinal Neoplasms / pathology. Retinoblastoma / pathology
  • [MeSH-minor] Humans. Molecular Biology. Retinal Horizontal Cells / pathology. Retinoblastoma Protein / genetics

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  • (PMID = 18854698.001).
  • [ISSN] 1531-7021
  • [Journal-full-title] Current opinion in ophthalmology
  • [ISO-abbreviation] Curr Opin Ophthalmol
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Retinoblastoma Protein
  • [Number-of-references] 25
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19. Sampieri K, Hadjistilianou T, Mari F, Speciale C, Mencarelli MA, Cetta F, Manoukian S, Peissel B, Giachino D, Pasini B, Acquaviva A, Caporossi A, Frezzotti R, Renieri A, Bruttini M: Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations. J Hum Genet; 2006;51(3):209-16
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Some cases, e.g. a case of incomplete penetrance, or variable expressivity ranging from retinoma to multiple tumours, are discussed in detail.


20. Uysal Y, Shields CL, Shields JA, Eagle RC Jr: Malignant transformation of retinocytoma into retinoblastoma. Retin Cases Brief Rep; 2008;2(3):256-8

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Malignant transformation of retinocytoma into retinoblastoma.
  • PURPOSE: To describe presumed malignant transformation of a single retinocytoma into retinoblastoma in a child with multifocal retinocytomas.
  • Ophthalmic evaluation showed one retinocytoma (spontaneously regressed retinoblastoma/arrested retinoblastoma) in each eye and one active endophytic retinoblastoma in the left eye.
  • RESULTS: Histopathologic examination disclosed a small predominantly endophytic retinoblastoma with extensive vitreous seeding in association with a basal focus of well differentiated tumor with photoreceptor differentiation, suggestive of retinocytoma.
  • The findings were consistent with malignant transformation of retinocytoma into retinoblastoma.
  • CONCLUSION: Patients presumed to have retinocytoma at clinical evaluation should have lifelong follow-up for the remote possibility of malignant transformation.

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  • (PMID = 25390104.001).
  • [ISSN] 1935-1089
  • [Journal-full-title] Retinal cases & brief reports
  • [ISO-abbreviation] Retin Cases Brief Rep
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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21. Shah SP, Jain A, Coffee RE, McCannel TA: Optos Panoramic 200MA ultrawide-field imaging of peripheral RPE adenoma. Semin Ophthalmol; 2009 Jan-Feb;24(1):37-9

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  • [Title] Optos Panoramic 200MA ultrawide-field imaging of peripheral RPE adenoma.
  • PURPOSE: To illustrate the utility of ultrawide-angle fundus imaging in documenting a suspicous lesion in the far retinal periphery.
  • METHOD: A 48 year-old female with new onset floaters in the left eye was noted to have an elevated and heavily pigmented lesion in the far retinal periphery.
  • Optos Panoramic200MA ultrawide-field photography and fluorescein angiography allowed for accurate serial documentaton of the lesion which was determined to be a retinal pigment epithelial adenoma.
  • RESULT: Over a four year period of observation, Optos ultrawide-field photography of the retinal pigment epithelial adenoma demonstrated stability of the lesion size and mild lesion depigmentation with overlying vitreous pigmentation.
  • CONCLUSION: The Optos ultra-widefield system demonstrates the ability to rapidly and reproducibily obtain images to monitor a peripheral retinal pigment epithelial adenoma for objective and comparitive detection of change.
  • [MeSH-major] Adenoma / diagnosis. Fluorescein Angiography / methods. Retinal Neoplasms / diagnosis. Retinal Pigment Epithelium / pathology

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  • (PMID = 19241291.001).
  • [ISSN] 1744-5205
  • [Journal-full-title] Seminars in ophthalmology
  • [ISO-abbreviation] Semin Ophthalmol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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22. Hadjistilianou T, De Francesco S, Martone G, Malandrini A: Retinocytoma associated with calcified vitreous deposits. Eur J Ophthalmol; 2006 Mar-Apr;16(2):349-51
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Retinocytoma associated with calcified vitreous deposits.
  • PURPOSE: To report a case of bilateral retinocytoma associated with calcified vitreous deposits.
  • RESULTS: On routine examination, a 35-year-old asymptomatic father of a child with bilateral retinoblastoma presented bilateral retinocytoma associated with vitreous calcifications, in the vicinity of the retinocytoma in his left eye.
  • Calcified vitreous deposits are a recently described feature of retinocytoma in addition to the three classic features: translucent retinal mass, retinal pigment epithelial alteration, and calcification.
  • [MeSH-major] Calcinosis / pathology. Eye Diseases / pathology. Retinal Neoplasms / pathology. Retinoblastoma / pathology. Vitreous Body / pathology
  • [MeSH-minor] Adult. Atrophy. Fluorescein Angiography. Follow-Up Studies. Humans. Male. Pigment Epithelium of Eye / pathology

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  • (PMID = 16703560.001).
  • [ISSN] 1120-6721
  • [Journal-full-title] European journal of ophthalmology
  • [ISO-abbreviation] Eur J Ophthalmol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Italy
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23. Yaman A, Gündüz K, Saatci O, Koçak N: A rare case of retinocytoma occurring in a 12-year-old child. J Pediatr Ophthalmol Strabismus; 2008 Jan-Feb;45(1):49-50

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] A rare case of retinocytoma occurring in a 12-year-old child.
  • A 12-year-old girl with a translucent, partially calcified retinal mass in the posterior pole surrounded by a rim of pigment epithelial changes and chorioretinal atrophy was diagnosed as having retinocytoma.
  • Retinocytoma is a benign retinal tumor that carries the same genetic implications as retinoblastoma.
  • [MeSH-major] Retinal Neoplasms / pathology. Retinoblastoma / pathology

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  • (PMID = 18286965.001).
  • [ISSN] 0191-3913
  • [Journal-full-title] Journal of pediatric ophthalmology and strabismus
  • [ISO-abbreviation] J Pediatr Ophthalmol Strabismus
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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24. Cohen M, Thomson M, Taylor C, Donatone J, Quijano G, Drut R: Colonic and duodenal flat adenomas in children with classical familial adenomatous polyposis. Int J Surg Pathol; 2006 Apr;14(2):133-40
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  • Gastrointestinal endoscopy and biopsies were performed in 3 female siblings (7, 9, and 11 years old) and 1 male (9 years old) when referred for screening owing to familial history of bowel cancer (family 1) or evidence of bilateral congenital hypertrophy of the retinal pigment epithelium (CHRPE), which is known to be associated with FAP (family 2).
  • Microscopic study demonstrated tubular adenomas with a few neoplastic crypts, slight disarray of the overall architecture, and moderate (low-grade) dysplasia of the epithelium.
  • Flat adenomas in the context of FAP probably represent early stages of the adenoma development.
  • [MeSH-major] Adenoma / etiology. Adenomatous Polyposis Coli / complications. Colorectal Neoplasms / etiology. Duodenal Neoplasms / etiology. Precancerous Conditions / etiology


25. Half E, Bercovich D, Rozen P: Familial adenomatous polyposis. Orphanet J Rare Dis; 2009;4:22
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  • FAP may present with some extraintestinal manifestations such as osteomas, dental abnormalities (unerupted teeth, congenital absence of one or more teeth, supernumerary teeth, dentigerous cysts and odontomas), congenital hypertrophy of the retinal pigment epithelium (CHRPE), desmoid tumors, and extracolonic cancers (thyroid, liver, bile ducts and central nervous system).
  • A less aggressive variant of FAP, attenuated FAP (AFAP), is characterized by fewer colorectal adenomatous polyps (usually 10 to 100), later age of adenoma appearance and a lower cancer risk.

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  • (PMID = 19822006.001).
  • [ISSN] 1750-1172
  • [Journal-full-title] Orphanet journal of rare diseases
  • [ISO-abbreviation] Orphanet J Rare Dis
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] England
  • [Number-of-references] 114
  • [Other-IDs] NLM/ PMC2772987
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26. Munteanu M: [Congenital retinal folds in different clinical cases]. Oftalmologia; 2005;49(2):54-8

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Congenital retinal folds in different clinical cases].
  • [Transliterated title] Pliurile falciforme (apropo de 12 cazuri clinice).
  • We present 12 clinical cases of congenital retinal folds with different etiologies: posterior primitive vitreous persistency and hyperplasia (7 cases),retinocytoma (1 case).
  • retinopathy of prematurity (1 case), astrocytoma of the retina (1 case), retinal vasculitis (1 case), Goldmann-Favre syndrome (1 case).
  • Etiopathogenic and nosological aspects are discussed; the congenital retinal folds are interpreted as a symptom in a context of a congenital or acquired vitreo-retinal pathology.
  • [MeSH-major] Retina / abnormalities. Retinal Dysplasia / etiology

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  • (PMID = 16245745.001).
  • [ISSN] 1220-0875
  • [Journal-full-title] Oftalmologia (Bucharest, Romania : 1990)
  • [ISO-abbreviation] Oftalmologia
  • [Language] rum
  • [Publication-type] English Abstract; Journal Article
  • [Publication-country] Romania
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27. Yaman A, Lebe B, Kiratli H, Saatci I, Soylev MF, Saatci AO: Adenoma of the retinal pigment epithelium mimicking ciliochoroidal melanoma. Clin Exp Optom; 2009 Mar;92(2):157-8

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Adenoma of the retinal pigment epithelium mimicking ciliochoroidal melanoma.
  • [MeSH-major] Adenoma / diagnosis. Choroid Neoplasms / diagnosis. Ciliary Body. Retinal Neoplasms / diagnosis. Retinal Pigment Epithelium. Uveal Neoplasms / diagnosis

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  • (PMID = 19278466.001).
  • [ISSN] 1444-0938
  • [Journal-full-title] Clinical & experimental optometry
  • [ISO-abbreviation] Clin Exp Optom
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Australia
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28. Dimaras H, Khetan V, Halliday W, Héon E, Chan HS, Gallie BL: Retinoma underlying retinoblastoma revealed after tumor response to 1 cycle of chemotherapy. Arch Ophthalmol; 2009 Aug;127(8):1066-8
Hazardous Substances Data Bank. CYCLOSPORIN A .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Retinoma underlying retinoblastoma revealed after tumor response to 1 cycle of chemotherapy.
  • [MeSH-major] Antineoplastic Combined Chemotherapy Protocols / therapeutic use. Calcinosis / diagnosis. Retinal Diseases / diagnosis. Retinal Neoplasms / drug therapy. Retinoblastoma / drug therapy

  • Genetic Alliance. consumer health - Retinoblastoma.
  • MedlinePlus Health Information. consumer health - Retinal Disorders.
  • Hazardous Substances Data Bank. ETOPOSIDE .
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  • (PMID = 19667353.001).
  • [ISSN] 1538-3601
  • [Journal-full-title] Archives of ophthalmology (Chicago, Ill. : 1960)
  • [ISO-abbreviation] Arch. Ophthalmol.
  • [Language] eng
  • [Publication-type] Case Reports; Letter; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Biomarkers, Tumor; 5J49Q6B70F / Vincristine; 6PLQ3CP4P3 / Etoposide; 83HN0GTJ6D / Cyclosporine; BG3F62OND5 / Carboplatin; CEV regimen
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29. Díaz-Rubio JL, González-Carrillo CP, Hernández-Abrego MP, Quiroz-Mercado H: [Congenital hypertrophy of the retinal pigment epithelium in a patient with a pituitary tumour]. Rev Neurol; 2007 Nov 1-15;45(9):571-2
MedlinePlus Health Information. consumer health - Pituitary Tumors.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Congenital hypertrophy of the retinal pigment epithelium in a patient with a pituitary tumour].
  • [Transliterated title] Hipertrofia congénita del epitelio pigmentado de la retina en un paciente con tumor hipofisario.
  • [MeSH-major] Adenoma, Chromophobe / complications. Diagnostic Errors. Pigment Epithelium of Eye / abnormalities. Pituitary Neoplasms / complications

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  • (PMID = 17979088.001).
  • [ISSN] 0210-0010
  • [Journal-full-title] Revista de neurologia
  • [ISO-abbreviation] Rev Neurol
  • [Language] spa
  • [Publication-type] Case Reports; Letter
  • [Publication-country] Spain
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30. Islam S, Islam E, Attaya H, Parupudi S, Shami M, Gonzalez MF, Wachtel M, Nugent K: Congenital hypertrophy retinal pigment epithelium as a manifestation of colon cancer. Am J Gastroenterol; 2010 Nov;105(11):2510-1
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Congenital hypertrophy retinal pigment epithelium as a manifestation of colon cancer.
  • [MeSH-major] Adenoma, Villous / complications. Colonic Neoplasms / complications. Retinal Diseases / complications. Retinal Pigment Epithelium / pathology

  • MedlinePlus Health Information. consumer health - Retinal Disorders.
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  • (PMID = 21048693.001).
  • [ISSN] 1572-0241
  • [Journal-full-title] The American journal of gastroenterology
  • [ISO-abbreviation] Am. J. Gastroenterol.
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] United States
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31. Wong IB, Farzavandi S: What's your diagnosis? Retinocytoma. J Pediatr Ophthalmol Strabismus; 2010 Sep-Oct;47(5):268, 287

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] What's your diagnosis? Retinocytoma.
  • [MeSH-major] Retinal Neoplasms / diagnosis. Retinoblastoma / diagnosis

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  • (PMID = 20839739.001).
  • [ISSN] 0191-3913
  • [Journal-full-title] Journal of pediatric ophthalmology and strabismus
  • [ISO-abbreviation] J Pediatr Ophthalmol Strabismus
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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