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Distinguishing ABCA4 from PRPH2-related disease: qualitative analysis of examination and imaging features
Kenneth C Fan1, Calvin W Wong2, Braden A Nichols1
1Retina Consultants of America, Retina Consultants of Texas, Houston, Texas, USA.
Insights
Distinguishing between ABCA4 and PRPH2 related retinal diseases can be challenging. This study identifies key imaging features, like peripapillary sparing for ABCA4 and macular atrophy for PRPH2, aiding clinical diagnosis.
Area of Science:
- Ophthalmology
- Medical Genetics
- Retinal Imaging Analysis
Background:
- ABCA4 and PRPH2 related retinal diseases present with overlapping and heterogeneous phenotypes, making clinical differentiation difficult.
- Identifying distinct clinical and imaging features is crucial for accurate diagnosis and management of these inherited retinal disorders.
Purpose of the Study:
- To identify and compare specific examination and imaging findings between patients with ABCA4-related and PRPH2-related retinal diseases.
- To determine if certain features can predict the genetic genotype in patients with these conditions.
Main Methods:
- Retrospective analysis of a single-center cohort of patients with molecular confirmation of pathogenic variants in ABCA4 or PRPH2.
- Comparison of the prevalence of specific fundus imaging and examination features between the ABCA4 and PRPH2 groups using statistical tests (Chi-square, Fisher exact, Student's t-test).
Main Results:
- ABCA4-related disease showed significantly higher rates of peripapillary sparing (fundus imaging and FAF), macular, and peripheral pisciform flecks compared to PRPH2-related disease.
- PRPH2-related disease was more strongly associated with macular chorioretinal atrophy than ABCA4-related disease.
Conclusions:
- Peripapillary sparing and pisciform flecks are indicative of ABCA4-related disease.
- Macular chorioretinal atrophy is a key feature suggesting PRPH2-related disease.
- Bull's eye maculopathy and macular flecks are predictive of an ABCA4 genotype.
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.
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