The following is a summary of “Clinical and Genetic Findings in a Cohort of Patients with PRPF31-associated Retinal Dystrophy,” published in the June 2024 issue of Ophthalmology by Bodenbender et al.

Researchers conducted a retrospective study investigating the variation in genes and disease characteristics in a large group of patients with PRPF31-linked retinal dystrophy.

They analyzed medical records and genotypes from patients with PRPF31-linked retinal dystrophy from the University of Tuebingen’s inherited retinal dystrophy clinics and the local RetDis database. The patients received comprehensive eye exams and genetic testing.

The result showed 86 patients from 61 families. Genetic analysis (performed on 111 individuals, including family members) identified 53 different mutations associated with the disease, with point mutations being the most frequent type. Almost all patients (84 out of 86) displayed typical Retinitis Pigmentosa (RP) symptoms. Only 1 patient had a cone-rod dystrophy pattern, and also one individual carrying a disease-linked mutation showed no signs of retinal problems. Young patients (20-39 years old) with large genetic deletions had significantly better visual acuity. Additionally, cystoid macular edema, a fluid build-up in the retina, was prevalent in patients with some central vision and was more common in females.

Investigators concluded that PRPF31 mutations cause retinal dystrophy with wide symptom variation, and seemingly unaffected family members might have subtle, undetected vision problems.

Source: ajo.com/article/S0002-9394(24)00266-6/fulltext#%20