Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy.

ABSTRACT:

Background

Gyrate atrophy of the choroid and retina is a rare autosomal recessive metabolic disorder caused by biallelic variants in the OAT gene, encoding the enzyme ornithine δ-aminotransferase. Impaired enzymatic activity leads to systemic hyperornithinaemia, which in turn underlies progressive chorioretinal degeneration. In this study, we describe the clinical and molecular findings in a cohort of individuals with gyrate atrophy.

Methods

Study participants were recruited through a tertiary UK clinical ophthalmic genetic service. All cases had a biochemical and molecular diagnosis of gyrate atrophy. Retrospective phenotypic and biochemical data were collected using electronic healthcare records.

Results

18 affected individuals from 12 families (8 male, 10 female) m

SUBMITTER: Palmer E 

PROVIDER: S-EPMC10476330 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature