Sibling concordance in symptom onset and atrophy growth rates in Stargardt disease using ultra-widefield fundus autofluorescence

Authors

Rachael C. Heath Jeffery
Jennifer A. Thompson
Johnny Lo, Edith Cowan UniversityFollow
Tina M. Lamey
Terri L. McLaren
John N. De Roach
Dimitar N. Azamanov
Ian L. McAllister
Ian J. Constable
Fred K. Chen

Document Type

Journal Article

Publication Title

Retina

Volume

42

Issue

8

First Page

1545

Last Page

1559

PubMed ID

35344533

Publisher

Wolters Kluwer

School

School of Science

RAS ID

52715

Funders

National Health and Medical Research Council of Australia / Macular Disease Foundation Australia / Perth Children's Hospital-Telethon research grant / McCusker Charitable Foundation (F.K.C.) / Miocevich Retina Fellowship (R.C.H.J.) / Retina Australia (J.A.T., T.L., J.N.D.R., T.L.M.)

Grant Number

NHMRC Numbers : GNT1116360, GNT1188694, GNT1054712, MRF1142962

Grant Link

http://purl.org/au-research/grants/nhmrc/GNT1116360 http://purl.org/au-research/grants/nhmrc/1142962

Comments

Jeffery, R. C. H., Thompson, J. A., Lo, J., Lamey, T. M., McLaren, T. L., De Roach, J. N., ... & Chen, F. K. (2022). Sibling concordance in symptom onset and atrophy growth rates in Stargardt disease using ultra-widefield fundus autofluorescence. Retina, 42(8), 1545-1559. https://doi.org/10.1097/IAE.0000000000003477

Abstract

Purpose: To investigate concordance in symptom onset, area of dark autofluorescence (DAF), and growth rate (GR) between Stargardt disease siblings at an age-matched time point. Methods: In this retrospective longitudinal study of sibling pairs with identical biallelic ABCA4 variants, age at symptom onset, best-corrected visual acuity, atrophy area, and effective radius of DAF on ultra-widefield fundus autofluorescence were recorded. Absolute intersibling differences for both eyes were compared with absolute interocular differences using the Mann-Whitney test. Results: Overall 39 patients from 19 families were recruited. In 16 families, age-matched best-corrected visual acuity and DAF were compared between siblings. In 8 families, DAF GR was compared. The median (range) absolute difference in age at symptom onset between siblings was 3 (0-35) years. Absolute intersibling differences in age-matched best-corrected visual acuity were greater than interocular differences (P = 0.01). Similarly, absolute intersibling differences in DAF area and radius were greater than interocular differences (P = 0.04 for area and P = 0.001 for radius). Differences between absolute interocular and intersibling GR were not statistically significant (P = 0.44 for area GR and P = 0.61 for radius GR). Conclusion: There was significant discordance in age-matched best-corrected visual acuity and DAF beyond the expected limits of interocular asymmetry. Lack of significant intersibling differences in GR warrants further investigation.

DOI

10.1097/IAE.0000000000003477

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