2024年12月25日 · RHO (Rhodopsin) is a Protein Coding gene. Diseases associated with RHO include Retinitis Pigmentosa 4 and Night Blindness, Congenital Stationary, Autosomal Dominant 1. Among its related pathways are Visual phototransduction and GPCR downstream signalling.

Rhodopsin, also known as visual purple, is a protein encoded by the RHO gene [5] and a G-protein-coupled receptor (GPCR). It is a light -sensitive receptor protein that triggers visual phototransduction in rod cells .

The RHO gene provides instructions for making a protein called rhodopsin. This protein is necessary for normal vision, particularly in low-light conditions. Rhodopsin is found in specialized light receptor cells called rods.

2025年2月8日 · The protein encoded by this gene is found in rod cells in the back of the eye and is essential for vision in low-light conditions. The encoded protein binds to 11-cis retinal and is activated when light hits the retinal molecule.

Rhodopsin is a light-sensitive G protein-coupled receptor that initiates the phototransduction cascade in rod photoreceptors. Mutations in the rhodopsin-encoding gene RHO are the leading cause of autosomal dominant retinitis pigmentosa (ADRP). To date, more than 200 mutations have been identified in RHO.

rho突变分为两类：a类突变导致早期丧失夜间视力和整个视网膜的视杆功能异常；b类突变会导致更缓慢的疾病进展，患者至少在视网膜的某些部分将正常的视杆感光细胞保留到成年期。从临床表型来看，p347l较p23h更严重[10]。

Autosomal dominant retinitis pigmentosa (AD-RP) is caused by several genes, among which RHO is one of the most investigated. This article will be focused on RHO and its role in explaining AD-RP cases in the Italian population, taking advantage of the experience of the Genomic Medicine Laboratory UILDM at the Santa Lucia Foundation IRCCS.

More than 150 mutations in the RHO gene have been identified in people with retinitis pigmentosa (RP). RHO gene mutations account for 20 to 30 percent of all cases of autosomal dominant RP, which is thought to be the most common form of the disorder. Rarely, mutations in the RHO gene are associated with autosomal recessive RP.

2021年12月15日 · Inferior sectoral retinitis pigmentosa in a patient with autosomal dominant RHO mutation. Bone spicules and RPE atrophy are seen on the inferior retina on wide field colour fundus photography (A). There is generalised retinal degeneration of the inferior retina seen on FAF imaging (B).

Our results demonstrate that mutations in PRPF31 gene affect rhodopsin (RHO) pre-mRNA splicing and reveal a link between PRPF31 and RHO, two major genes in autosomal dominant retinitis pigmentosa. Comparison of rhodopsin mutation in dog and human for retinitis pigmentosa.