Nystagmus and Foveal Hypoplasia in a Carrier of Oculocutaneous Albinism
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 reveal...
| Veröffentlicht in: | Ophthalmic surgery, lasers & imaging retina. - 2013. - 55(2024), 6 vom: 11. Juni, Seite 349-353 |
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| Weitere Verfasser: | , |
| Format: | Online-Aufsatz |
| Sprache: | English |
| Veröffentlicht: |
2024
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| Zugriff auf das übergeordnete Werk: | Ophthalmic surgery, lasers & imaging retina |
| Schlagworte: | Case Reports Journal Article Membrane Transport Proteins OCA2 protein, human |
| Zusammenfassung: | 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.] |
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| Beschreibung: | Date Completed 11.06.2024 Date Revised 30.08.2024 published: Print-Electronic Citation Status MEDLINE |
| ISSN: | 2325-8179 |
| DOI: | 10.3928/23258160-20240207-03 |