Fundus autofluorescence features specific for EYS-associated retinitis pigmentosa

Area of Science:

• Ophthalmology
• Genetics
• Medical Imaging

Background:

• Retinitis pigmentosa (RP) is a group of inherited retinal diseases.
• Identifying the genetic cause of RP, such as EYS mutations, is crucial for diagnosis and management.
• Fundus autofluorescence (FAF) imaging provides insights into retinal pigment epithelium function.

Purpose of the Study:

• To evaluate the effectiveness of specific fundus autofluorescence (FAF) patterns in predicting the EYS genotype in patients with retinitis pigmentosa (RP).
• To determine if FAF patterns can serve as a non-invasive biomarker for EYS-associated RP.
• To assess the clinical utility of FAF in guiding genetic testing for RP.

Main Methods:

• Retrospective analysis of FAF images from 200 RP patients across multiple institutions in Singapore and Japan.
• Evaluation of seven distinct FAF patterns, including the 'infinity sign' and a broad hyper-autofluorescent leading edge.
• Statistical analysis, including logistic regression, to determine the association between FAF patterns and the EYS genotype.

Main Results:

• The 'infinity sign' and broad hyper-autofluorescent leading edge FAF patterns were significantly more prevalent in patients with the EYS genotype (p<0.05).
• The 'infinity sign' was identified as a significant predictor of the EYS genotype (p=0.003).
• A combined model using seven FAF parameters achieved 95.20% specificity and 69.50% accuracy in predicting the EYS genotype.

Conclusions:

• Specific FAF patterns, notably the 'infinity sign', are clinically useful for identifying patients with EYS-associated RP.
• These FAF findings can assist clinicians and geneticists in prioritizing genetic testing for RP patients.
• The study enhances understanding of the pathophysiology of EYS-associated RP, a common cause of RP globally.