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Article

Isolated foveal hypoplasia: report of a new case and detailed genetic investigation.

International ophthalmology - 1 Apr 2011

Al-Saleh Ahmed A, Hellani Ali, Abu-Amero Khaled K

Abstract excerpt

To carry out an ophthalmological and detailed genetic investigation on a 7-year-old boy with isolated foveal hypoplasia. A full ophthalmological examination and optical coherence tomography (OCT) was performed. We also performed a full genome screen for chromosomal abnormalities, and searched for mutations in two genes (GPR143 and OCA2) known to be associated with ocular albinism and PAX6 gene known to be...

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Source

Identifiers

PMID: 21264491
DOI: 10.1007/s10792-011-9424-1

Genes

OCA2
PAX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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