A 12-year-old female with a history of OCA was referred to the retina clinic for evaluation. She had no significant family history. Best corrected visual acuity was 20/80 in the right eye and 20/70 in the left eye. On exam she was noted to have nystagmus and a small angle intermittent esotropia. Slit lamp exam revealed subtle transillumination iris defects in both eyes, and fundus exam showed a moderately blonde fundus with foveal hypoplasia in both eyes. Several small lamellar holes were noted in the temporal macula in the left eye. Heidelberg optical coherence tomography (OCT) showed a thin macula with fovea plana and irregular lamellar holes in both eyes. Genetic testing revealed two mutations in TYR consistent with a diagnosis of OCA1. She will continue to follow up in the clinic with routine eye exams.
Presentation Date: 11/07/2019
Issue Date: 08/01/2020