Retinitis pigmentosa with pre-mRNA processing factor 31 mutation: a case report of a Moroccan patient.

Abstract

To report the clinical findings of a Moroccan patient presenting with retinitis pigmentosa (RP), together with pre-mRNA processing factor 31 (PRPF31) mutations. The patient experienced night blindness a few months before being diagnosed with RP in July 2023, and several ophthalmic examinations were carried out, including best-corrected visual acuity (BCVA) measurement, slit-lamp biomicroscopy, dilated ophthalmoscopy, fundus photography, optical coherence tomography (OCT), and electroretinogram (ERG). A genetic analysis was carried out to identify the causative genes in order to better understand the disease and facilitate the path to therapy. The variant found was in the PRPF31 gene at position c.1165C>T p(Gln389**), generating a stop codon and a loss of 110 amino acids. This mutation has previously been described as pathogenic and induces autosomal dominant RP. This is the first description of a Moroccan case presenting RP with a PRPF31 mutation. More cases are needed to better define the clinical progression and the range of mutations.