Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa.

摘要: Importance Co-occurrence of retinitis pigmentosa (RP) and olfactory dysfunction may have a common genetic cause. Objective To report function the retinal phenotype in patients with biallelic mutations inCNGB1, gene coding for signal transduction channel subunit expressed rod photoreceptors sensory neurons. Design, Setting, Participants This case series was conducted from August 2015 through July 2017. The setting multicenter study involving 4 tertiary referral centers inherited dystrophies. were 9 withCNGB1-associated RP. Main Outcomes Measures Results testing, ocular phenotyping, molecular testing using targeted next-generation sequencing. Nine included study, 3 whom female. Their ages ranged between 34 79 years. All had an early onset night blindness but usually not diagnosed as having RP before fourth decade because slow degeneration. Retinal features characteristic rod-cone dystrophy. Olfactory revealed reduced or absent function, all except one patient scoring lowest quartile relation to age-related norms. Brain magnetic resonance imaging electroencephalography measurements response stimulation available 1 no visible bulbs responses odor, respectively. Molecular identified 5 novel (c.1312C>T, c.2210G>A, c.2492+1G>A, c.2763C>G, c.3044_3050delGGAAATC) previously reported inCNGB1. Conclusions Relevance Mutations inCNGB1may cause autosomal recessive RP–olfactory syndrome characterized by progression degeneration variable anosmia hyposmia.