Abstract
ABSTRACT Introduction ABCA4 and PRPH2-related diseases are both phenotypically heterogeneous and clinically difficult to differentiate. There may be examination and imaging features that can aid in establishing a clinical diagnosis. Methods A single-center, retrospective, consecutive case series including patients with a molecular confirmation of pathologic variants in either the ABCA4 or PRPH2 were included. Chi-square analysis, Fisher exact test, and Student’s t-test comparing prevalence of specific examination and imaging features between ABCA4 and PRPH2 Results Of the 127 eyes from 64 patients included, the ABCA4 group was more significantly associated with peripapillary sparing on both fundus imaging (73% vs. 40%; p = 0.006) and FAF (71% vs. 44%; p = 0.025), macular (64% vs. 12%; p < 0.001) and peripheral pisciform flecks (22% vs. 3.6%; p = 0.025). The PRPH2 group was more highly associated with macular chorioretinal atrophy (86% vs. 55%; p = 0.003). Conclusions Peripapillary sparing and pisciform flecks are more highly associated with ABCA4-related disease, while macular chorioretinal atrophy is more highly associated with PRPH2-related disease. Logistic regression demonstrates that bull’s eye maculopathy and macular flecks are predictive of the ABCA4 genotype.
Published Version
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