A novel NR2E3 gene mutation in autosomal recessive retinitis pigmentosa with cystic maculopathy

Purpose With the context of the Ophthalmic Genetic Clinics, this presentation aims to explore the level of understanding of photoreceptor degeneration, the leading cause of inherited blindness, which presents with extreme genetic heterogeneity, making the molecular diagnosis a challenge. The promising future for inherited retinal dystrophies with the advent of clinical trials has been described, emphasizing the increasing need to identify the causative gene. Methods Case: This patient was seen as a part of an EVER foundation fellowship (School of Optometry and Vision Sciences, Cardiff University, UK) in the Ophthalmic Genetics Clinics. A 44‐year‐old male patient was diagnosed with autosomal recessive retinitis pigmentosa with cystic maculopathy and a novel compound heterozygous mutation, c.119‐2A>C and c.571+2T>C in the NR2E3 gene was discovered. The patient was treated with oral carbonic an hydrase inhibitors, which lead to the partial resolution of foveal cysts with a marked improvement in visual acuity. Results NR2E3 mutations lead to a defective development or abnormal maintenance of rod photoreceptors, which manifests as macular schisis. Although, the splice site mutation 119‐2A>C in NR2E3 (15q23) has been previously reported, the mutation c 571 + 2 T > C in NR2E3 is novel and has not been previously reported with retinal disease. Conclusions Molecular identification helps to diagnose the RP subtype, improve patient follow up and helps to predict the course of the disease. The importance of identifying the genes and understanding the pathogenesis of retinal dystrophies has been highlighted with this case, in order to facilitate the development of new therapeutic interventions, hoping for a future where we can combat inherited blindness.