Sex Distributions in the Most Frequent Autosomal Genetic Causes of Retinitis Pigmentosa.

ABSTRACT:

Purpose

The purpose of this study was to explore whether sex imbalances are detectable in the most frequent genetic causes of retinitis pigmentosa (RP).

Methods

Databases from centers in three countries (Moorfields Eye Hospital, London; Hospital for Sick Children, Toronto; and Australian Inherited Retinal Disease Registry, Perth, Australia) were searched, quantifying numbers of male and female patients with disease attributed to variants in the six most frequently involved autosomal RP genes. Proportions of female patients (with 95% confidence intervals [CIs]) were calculated for each gene. Two-tailed binomial testing was performed (Bonferroni corrected threshold, P = 0.008) to investigate whether proportions differed significantly from an underlying male:female ratio of 1:1

SUBMITTER: Hughes MJ 

PROVIDER: S-EPMC12400967 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature