Nicolas A Yannuzzi, MD » Miscellaneous

Sep 17 2024 by Nicolas A Yannuzzi, MD

Visual acuity was 20/20 OD and 20/60 OS. Genetics testing showed multiple variants of unknown significance in PEX1, PRPH2, TTLL5, and WFS1. (Images courtesy of Byron L. Lam, MD)

Condition/keywords: inherited retinal disease, pattern dystrophy

Sep 17 2024 by Nicolas A Yannuzzi, MD

Visual acuity was 20/20 OD and 20/25 OS. Genetic testing showed only 1 pathogenic variation in ABCA4, which is atypical for STGD1 Stargardt disease that is inherited in autosomal recessive fashion. (Images courtesy of Byron L. Lam, MD)

Condition/keywords: inherited retinal disease, pattern dystrophy

Sep 17 2024 by Nicolas A Yannuzzi, MD

He had a significant family history of dominant macular dystrophy. OCT images demonstrate intraretinal fluid and disruption of the retinal layers in both eyes. Additionally, vitelliform material can be seen in the right eye and an area of choroidal protrusion in the left. (Images courtesy of Byron L. Lam, MD)

Condition/keywords: inherited retinal disease, pattern dystrophy

Sep 17 2024 by Nicolas A Yannuzzi, MD

The PD simulates Stargardt disease/fundus flavimaculatus with irregular yellow-white flecks scattered throughout the posterior pole. Some lesions extend beyond the retinal vascular arcades.

Condition/keywords: inherited retinal disease, pattern dystrophy