Insight into RP2-associated retinopathy reveals varied manifestations in female carriers

A comprehensive study on RP2-associated retinopathy found a diverse range of manifestations in female carriers of the RP2 gene, including exhibiting subtle characteristics such as tapetal-like reflex and pigmentary changes, a significant finding is that female carriers can indeed manifest retinitis pigmentosa (RP). However, most carriers remain asymptomatic.

This retrospective case series involved the investigation of 40 pedigrees with a focus on identifying females with disease-causing variants in the RP2 gene. Among the 29 pedigrees with obligate carriers or molecularly confirmed female members, data were obtained through a meticulous review of case notes and results from molecular genetic testing, retinal imaging (including fundus autofluorescence imaging and optical coherence tomography), and electrophysiology.

Of the 27 females examined by a retinal genetics specialist, 85% reported no complaints and had normal vision. However, 4 patients exhibited RP-associated complaints. The fundus examination revealed that 8 patients had normal findings, 10 had a tapetal-like reflex, and 5 had scattered peripheral pigmentation. Among the symptomatic patients, fundus findings were compatible with RP. Notably, all asymptomatic patients with normal fundus, tapetal-like reflex, or asymptomatic pigmentary changes exhibited a continuous ellipsoid zone on optical coherence tomography.

Electroretinograms further unveiled mild to severe photoreceptor dysfunction in 9 out of 11 subjects, often asymmetrical, including evidence of macular dysfunction.

Reference
Georgiou M, Robson AG, Uwaydat SH, et al. RP2-associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers. Am J Ophthalmol. 2023;S0002-9394(23)00462-2. doi: 10.1016/j.ajo.2023.11.005. Epub ahead of print. PMID: 37977507.