Visual acuities in patients with autosomal recessive retinitis pigmentosa associated with four rod phototransduction genes
Year: 2026
Type: article
Abstract: Inherited retinal diseases (IRDs) are a leading cause of vision impairment in children and working-age adults in several countries. Retinitis pigmentosa (RP) is the most frequent phenotype. Bi-allelic pathogenic variants in any one of many genes can cause autosomal recessive RP (ARRP). Where ARRP arises from variants in rod phototransduction genes (in contrast to other genes), one hallmark is early onset nyctalopia since rod phototransduction is affected from birth, well before the onset of widespread rod photoreceptor degeneration [ 1 ]. When the latter occurs, consequent cone death in the peripheral retina leads to visual field loss. Loss of central visual acuity (VA) can occur at advanced stages when foveal cones degenerate.
Source: Eye
Institutions: NIHR Moorfields Biomedical Research Centre, Moorfields Eye Hospital, University College London, Massachusetts Eye and Ear Infirmary, Harvard University, University of Manchester, St Mary's Hospital, Manchester University NHS Foundation Trust, Greenwood Genetic Center, St Thomas' Hospital, UCL Biomedical Research Centre
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: hybrid
Estimated APC paid: $3,590
Funders: Wellcome Trust, Medical Research Council
OpenAlex ID: W7162128172