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
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
Creative Commons License
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 4.0 License.
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