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- Title
Nystagmus and Foveal Hypoplasia in a Carrier of Oculocutaneous Albinism.
- Authors
Arora, Neha; Hoyek, Sandra; Patel, Nimesh A.
- Abstract
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. To the best of our knowledge, this is the first reported case of typical ocular phenotype of albinism, specifically nystagmus, in a patient who is carrier for oculo-cutaneous albinism. Further research is required to expand the genotype-phenotype relationship in carriers of oculocutaneous albinism. [Ophthalmic Surg Lasers Imaging Retina 2024;55:349–353.]
- Subjects
NYSTAGMUS; ALBINOS &; albinism; RETINAL detachment; GENETIC mutation; DISEASE vectors
- Publication
Ophthalmic Surgery, Lasers & Imaging Retina, 2024, Vol 55, Issue 6, p349
- ISSN
2325-8160
- Publication type
Case Study
- DOI
10.3928/23258160-20240207-03