A cohort study of 19 patients with gyrate atrophy of the choroid and retina (GACR).

ABSTRACT:

Purpose

Gyrate atrophy of the choroid and retina (GACR) is an autosomal recessive inherited metabolic disorder (IMD) characterised by progressive retinal degeneration, leading to severe visual impairment. The rapid developments in ophthalmic genetic therapies warrant knowledge on clinical phenotype of eligible diseases such as GACR to define future therapeutic parameters in clinical trials.

Methods

Retrospective chart analysis was performed in nineteen patients. Data were analysed using IBM SPSS Statistics version 28.0.1.1.

Results

Nineteen patients were included with a mean age of 32.6 years (range 8-58). Mean age at onset of ophthalmic symptoms was 7.9 years (range 3-16). Median logMAR of visual acuity at inclusion was 0.26 (range -0.18-3.00). Mean age at cataract s

SUBMITTER: Balfoort BM 

PROVIDER: S-EPMC11584430 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature