CTNNA1-associated retinal dystrophy: novel multimodal imaging and electrophysiology features.

ABSTRACT:

Purpose

To describe multimodal imaging and electrophysiology features of CTNNA1-associated retinal dystrophy in a family with p.(Leu318Ser) substitution.

Methods

Three family members including a 48-year-old male proband, his 52-year-old sister, and their 67-year-old mother, were evaluated with multimodal imaging and electrophysiology. The proband, referred with suspected Best's disease, underwent a retinal dystrophy panel and two affected family members were target sequenced for the familial variant.

Results

The NM_001903.5:c.953T > C variant in CTNNA1 segregated with affected family members. They maintained a visual acuity of 20/25 or better throughout 2-4 years of follow-up. The proband exhibited butterfly-shaped pigment dystrophy whilst his sister had no macular le

SUBMITTER: Alexis JA 

PROVIDER: S-EPMC12568884 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature