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SIBLING CONCORDANCE IN SYMPTOM ONSET AND ATROPHY GROWTH RATES IN STARGARDT DISEASE USING ULTRA-WIDEFIELD FUNDUS
Rachael C Heath Jeffery1,2, Jennifer A Thompson3, Johnny Lo4
1Centre for Ophthalmology and Visual Science (incorporating Lions Eye Institute), The University of Western Australia, Australia.
Retina (Philadelphia, Pa.)
|March 28, 2022
Summary
Stargardt disease siblings show significant differences in symptom onset and dark autofluorescence (DAF) compared to differences within one eye. Growth rates (GR) of DAF showed no significant intersibling differences, suggesting further study is needed.
Area of Science:
- Ophthalmology
- Genetics
- Retinal Diseases
Background:
- Stargardt disease is an inherited retinal disorder characterized by progressive vision loss.
- Genetic factors, particularly ABCA4 variants, play a crucial role in Stargardt disease pathogenesis.
- Understanding concordance in disease progression among siblings is vital for predicting outcomes and developing targeted therapies.
Purpose of the Study:
- To assess the concordance of symptom onset, dark autofluorescence (DAF) area, and DAF growth rate (GR) between siblings with Stargardt disease.
- To compare intersibling variability with interocular variability for key Stargardt disease parameters.
- To investigate the impact of identical biallelic ABCA4 variants on disease manifestation within families.
Main Methods:
- Retrospective longitudinal study of 19 families with Stargardt disease patients.
- Comparison of age at symptom onset, best-corrected visual acuity (BCVA), DAF area, and DAF radius between siblings and within individuals.
- Statistical analysis using the Mann-Whitney test to compare intersibling and interocular differences.
Main Results:
- Significant discordance observed in age at symptom onset (median 3 years difference) and DAF parameters between siblings.
- Intersibling differences in BCVA (P=0.01), DAF area (P=0.04), and DAF radius (P=0.001) were significantly greater than interocular differences.
- No statistically significant differences were found in DAF growth rates (area GR P=0.44, radius GR P=0.61) between siblings.
Conclusions:
- Stargardt disease exhibits significant intersibling variability in disease onset and progression, exceeding expected interocular asymmetry.
- The lack of significant intersibling differences in DAF growth rates suggests a potentially conserved progression pattern for this specific parameter, warranting further investigation.
- These findings highlight the complex interplay of genetic and potentially other factors influencing Stargardt disease manifestation even among genetically identical siblings.
