Olfactory dysfunction in patients with CNGB1-associated retinitis pigmentosa
JAMA Ophthalmology Jun 04, 2018
Issa PC, et al. - Experts presented olfactory function and the retinal phenotype in patients with biallelic mutations in CNGB1, a gene coding for a signal transduction channel subunit expressed in rod photoreceptors and olfactory sensory neurons. The age of the participants included in the study ranged between 34 and 79 years. Findings suggested a probability of the mutations in CNGB1 to cause an autosomal recessive RP–olfactory dysfunction syndrome that is characterized by a slow progression of retinal degeneration and variable anosmia or hyposmia.
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