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Article

Combined retinal hamartomas leading to the diagnosis of neurofibromatosis type 2.

Ophthalmic genetics - 1 Sept 2008

Grant Elizabeth A, Trzupek Karmen M, Reiss Jacob, Crow Kate, Messiaen Ludwine, Weleber Richard G

Abstract excerpt

PURPOSE: To report two cases of neurofibromatosis type 2 (NF2) initially presenting with isolated bilateral combined hamartomas of the retina and retinal pigment epithelium (RPE). METHODS: Retrospective observational case reports. RESULTS: Two unrelated children presented to ophthalmology with isolated combined hamartomas of the retina and RPE. Patient one presented to ophthalmology at the age of 2 years; by 4...

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Source

Identifiers

PMID: 18766994
DOI: 10.1080/13816810802206507

Genes

RPE

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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