Document Type

Journal Article

Publication Title

Genes

Volume

12

Issue

12

Publisher

MDPI

School

School of Science

RAS ID

40583

Funders

National Health and Medical Research Council

Macular Disease Foundation Australia

McCusker Charitable Foundation

Miocevich Retina Fellowship

Retina Australia

Grant Number

NHMRC Number : GNT1116360, GNT1188694, GNT1054712, MRF1142962

Comments

Heath Jeffery, R. C., Thompson, J. A., Lo, J., Lamey, T. M., McLaren, T. L., McAllister, I. L., . . . Chen, F. K. (2021). Genotype-specific lesion growth rates in stargardt disease. Genes, 12(12), article 1981.

https://doi.org/10.3390/genes12121981

Abstract

Reported growth rates (GR) of atrophic lesions in Stargardt disease (STGD1) vary widely. In the present study, we report the longitudinal natural history of patients with confirmed bial-lelic ABCA4 mutations from five genotype groups: c.6079C > T, c.[2588G > C;5603A > T], c.3113C > T, c.5882G > A and c.5603A > T. Fundus autofluorescence (AF) 30◦ × 30◦ images were manually seg-mented for boundaries of definitely decreased autofluorescence (DDAF). The primary outcome was the effective radius GR across five genotype groups. The age of DDAF formation in each eye was calculated using the x-intercept of the DDAF effective radius against age. Discordance between age at DDAF formation and symptom onset was compared. A total of 75 eyes from 39 STGD1 patients (17 male [44%]; mean ± SD age 45 ± 19 years; range 21–86) were recruited. Patients with c.3113C > T or c.6079C > T had a significantly faster effective radius GR at 0.17 mm/year (95% CI 0.12 to 0.22; p < 0.001 and 0.14 to 0.21; p < 0.001) respectively, as compared to those patients harbouring c.5882G > A at 0.06 mm/year (95% CI 0.03–0.09), respectively. Future clinical trial design should consider the effect of genotype on the effective radius GR and the timing of DDAF formation relative to symptom onset.

DOI

10.3390/genes12121981

Creative Commons License

Creative Commons Attribution 4.0 License
This work is licensed under a Creative Commons Attribution 4.0 License.

Share

 
COinS