Abstract
Purpose :
To determine if patients with known USH2A mutations can be distinguished on the basis of recognizable fundus features in common.
Methods :
This study conformed to the Principles of Helsinki, and was approved by the Institutional Review Board of the Columbia University Irving Medical Center. A cohort of 46 patients with retinal degeneration associated with confirmed mutations in the USH2A was identified from the records of the Division of Ophthalmic Genetics at the Harkness Eye Institute. Fundus images (mostly obtained with the Optos wide-field fundus camera) were reviewed and scored for features typical for patients with pigmentary retinopathies and similar retinal disorders: Bone-spicule pigmentation (absent, mild, moderate, severe); distribution of retinal pigmentation (generalized, peripheral, concentrated in one or more retinal quadrants); retinal pigment epithelial atrophy (diffuse, nummular, central); attenuation of the retinal blood vessels (absent, mild, moderate, severe); and presence or absence of bullseye maculopathy. The USH2A mutations were recorded for each patient.
Results :
There were 72 unique USH2A mutations noted among the 46 patients reviewed, with only four mutations seen in more than one patient (c.12575G>A in 8 patients, c.15178T>C in 2 patients, and c.2276G>T in 2 patients, and c.2802T>G in 2 patients). 3 patients carried homozygous mutations; 30 patient had compound heterozygous mutations. In 13 patients (28% of the cohort) only a single heterozygous mutation was found. There was little similarity in appearance among our overall cohort of patients with known USH2A mutations. Retinal pigmentation varied from “none” to “severe”. Atrophic changes in the retinal pigment epithelium were seen centrally, diffusely, and in a nummular (coin-shaped) configuration. Even within the small groups of patients with identical mutations, there was no similarity in fundus appearance.
Conclusions :
There does not appear to be a common fundus appearance among patients with retinal degenerations associated with mutations in USH2A, even among patients with identical mutations.
This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.