Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene

Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 (RP1) gene is a hereditary retinal dystrophy caused by pathogenic variants in the RP1 gene located on chromosome 8q12.1. The RP1 protein plays a critical role in the structure and function of the photoreceptor connecting cilium, which is essential for the transport of proteins between the inner and outer segments of rod and cone photoreceptors. Dysfunction of this ciliary protein leads to progressive degeneration of photoreceptor cells in the retina. The condition primarily manifests as retinitis pigmentosa (RP), characterized by progressive loss of peripheral vision (tunnel vision), difficulty seeing in dim light or darkness (night blindness or nyctalopia), and eventual decline in central visual acuity. Patients typically notice night blindness as an early symptom, followed by gradual constriction of the visual field over years to decades. Fundoscopic examination often reveals bone-spicule pigmentation in the mid-peripheral retina, attenuated retinal blood vessels, and waxy pallor of the optic disc. Electroretinography (ERG) shows diminished or extinguished rod and cone responses. The disease can follow either autosomal dominant or autosomal recessive inheritance patterns depending on the specific RP1 mutation involved. Autosomal dominant forms tend to have a somewhat milder phenotype with later onset, while autosomal recessive forms may present earlier and with more severe retinal degeneration. Currently, there is no definitive cure for RP1-related retinal ciliopathy. Management is primarily supportive and includes regular ophthalmologic monitoring, use of low-vision aids, orientation and mobility training, and protection from excessive light exposure. Vitamin A palmitate supplementation has been suggested in some forms of RP, though its benefit remains debated. Gene therapy approaches are under investigation for various forms of retinitis pigmentosa, and RP1-specific gene therapy strategies are being explored in preclinical research. Genetic counseling is recommended for affected individuals and their families.

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