Autosomal Recessive Bestrophinopathy-Phenotypic Variability, Natural History, and Genotype-Phenotype Correlations

Area of Science:

• Ophthalmology
• Genetics
• Retinal Diseases

Background:

• Autosomal Recessive Bestrophinopathy (ARB) is an inherited retinal dystrophy.
• Understanding its clinical course and genetic basis is crucial for patient management.

Purpose of the Study:

• To characterize the clinical features, natural history, and genotype-phenotype correlations in Autosomal Recessive Bestrophinopathy (ARB).

Main Methods:

• Retrospective cohort study of 34 molecularly confirmed ARB patients.
• Data included genetic analysis, ophthalmologic exams, retinal imaging (SW-AF, OCT), and ERG.
• Longitudinal analysis used mixed-effects modeling and Kaplan-Meier curves.

Main Results:

• ARB showed a broad phenotypic spectrum (macular to panretinal involvement).
• Primary angle closure (PAC) was associated with earlier severe visual impairment onset (47 vs. 68 years).
• No significant annual change in visual acuity was observed over 3 years.

Conclusions:

• ARB exhibits diverse clinical presentations, with PAC significantly impacting visual impairment risk.
• Fundus lesion severity was less predictive of visual outcomes than PAC.
• Sensitive functional outcome measures are essential for future ARB clinical trials.