Cerebral visual impairment: genetic diagnoses and phenotypic associations.

ABSTRACT:

Background

Cerebral visual impairment (CVI) is the most common form of paediatric visual impairment in developed countries. CVI can arise from a host of genetic or acquired causes, but there has been limited research to date on CVI in the context of genetic disorders.

Methods

We carried out a retrospective analysis of genotypic and phenotypic data for participants with CVI within the DECIPHER database and 100 000 Genomes Project (100KGP).

Results

158 individuals with CVI were identified across both cohorts. Within this group, pathogenic or likely pathogenic sequence variants in 173 genes were identified. 25 of these genes already have known associations with CVI, while the remaining 148 are candidate genes for this phenotype. Gene ontology analysis of the CVI gene set

SUBMITTER: Shaw E 

PROVIDER: S-EPMC11137471 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature