A man in his early 20’s with cutaneous albinism was referred to an ophthalmologist for evaluation of nystagmus and photophobia. He denied oscillopsia. His best-corrected visual acuity was 20/80 with each eye. Anterior segment examination revealed iris transillumination defects in both eyes. Both of his fundi showed pronounced hypopigmentation of retinal pigmented epithelium with clearly visualized choroidal vessels. Bilateral foveal light reflexes were absent corresponding with foveal hypoplasia, lack of foveal umbo and increased foveal thickness, visible on optical coherence tomography.(1) Conjugate bilateral pendular horizontal nystagmus was presented in all gazes with decreased amplitude and frequency with convergence. Hair and skin were hypopigmented. His provisional diagnosis was oculocutaneous albinism. He declined genetic testing.
Figure. Ultra-widefield fundus photo.
Ultra-widefield fundus photo of the left eye demonstrates generalized hypopigmented retinal pigmented epithelium with hypoplastic fovea.
Acknowledgments
This study was conducted at Department of Ophthalmology, Stanford University, Palo Alto, California, USA
Funding:
Authors reported no funding
Footnotes
Conflict of Interest: No conflict of interest
Reference
- 1.Izquierdo NJ, Emanuelli A, Izquierdo JC, Garcia M, Cadilla C, Berrocal MH. Foveal thickness and macular volume in patients with oculocutaneous albinism. Retina. 2007;27(9):1227–30. [DOI] [PubMed] [Google Scholar]