Retina. 2022 Mar 24. doi: 10.1097/IAE.0000000000003477. Online ahead of print.
ABSTRACT
PURPOSE: To investigate concordance in symptom onset, area of dark autofluorescence (DAF) and growth rate (GR) between Stargardt disease (STGD1) 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 (BCVA), atrophy area and effective radius of DAF on ultra-widefield fundus autofluorescence were recorded. Absolute intersibling differences for both eyes were compared to absolute interocular differences using the Mann-Whitney test.
RESULTS: We recruited 39 patients from 19 families. In 16 families, age-matched BCVA 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 BCVA 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).
CONCLUSIONS: There was significant discordance in age-matched BCVA and DAF beyond the expected limits of interocular asymmetry. Lack of significant intersibling differences in GR warrants further investigation.
PMID:35344533 | DOI:10.1097/IAE.0000000000003477
