Unilateral BEST1-Associated Retinopathy

Area of Science:

• Ophthalmology
• Genetics
• Retinal Diseases

Background:

• Best disease is a genetic retinal disorder typically presenting with bilateral symptoms.
• Mutations in the BEST1 gene are the primary cause of Best disease.

Observation:

• This study describes five patients with BEST1 mutations presenting with unilateral clinical manifestations of Best disease.
• Despite unilateral eye symptoms, electrophysiological tests revealed bilateral retinal pigment epithelium dysfunction.

Findings:

• BEST1 gene mutations exhibit variable penetrance and expressivity, leading to atypical unilateral presentations.
• Clinical and electrophysiological findings in these cases are consistent with Best disease, despite the asymmetric ocular involvement.

Implications:

• Recognizing unilateral Best disease is crucial for accurate diagnosis and genetic counseling.
• This study highlights the importance of considering atypical presentations in genetic retinal disorders.