Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases.

ABSTRACT:

Purpose

We investigated axial length (AL) distributions in inherited retinal diseases (IRDs), comparing them with reference cohorts.

Methods

AL measurements from IRD natural history study participants were included and compared with reference cohorts (TwinsUK, Raine Study Gen2-20, and published studies). Comparing with the Raine Study cohort, formal odds ratios (ORs) for AL ≥ 26 mm or AL ≤ 22 mm were derived for each IRD (Firth's logistic regression model, adjusted for age and sex).

Results

Measurements were available for 435 patients (median age, 19.5 years). Of 19 diseases, 10 had >10 participants: ABCA4 retinopathy; CNGB3- and CNGA3-associated achromatopsia; RPGR-associated disease; RPE65-associated disease; blue cone monochromacy (BCM); Bornholm eye disease (BED);

SUBMITTER: Williams KM 

PROVIDER: S-EPMC9206393 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature