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Article

Nystagmus and Foveal Hypoplasia in a Carrier of Oculocutaneous Albinism.

Ophthalmic surgery, lasers & imaging retina - 1 Jun 2024

Arora Neha, Hoyek Sandra, Patel Nimesh A

Abstract excerpt

We report a 23-year-old female patient with ophthalmic features of albinism, including refractive errors, nystagmus, depigmented fundus, and foveal hypoplasia. She presented for a rhegmatogenous retinal detachment, which was surgically reattached with no complications. Further genetic testing revealed the presence of a heterozygous pathogenic oculocutaneous albinism OCA2 gene mutation, conferring carrier status....

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Share to Albinism, Oculocutaneous
Share to Eye Diseases, Hereditary
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Membrane Transport Proteins

Share to Nystagmus, Congenital

Share to Nystagmus, Pathologic

Share to Tomography, Optical Coherence

Source

Identifiers

PMID: 38860972
DOI: 10.3928/23258160-20240207-03

Genes

OCA2

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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