Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa
Standard
Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa. / Charbel Issa, Peter; Reuter, Peggy; Kühlewein, Laura; Birtel, Johannes; Gliem, Martin; Tropitzsch, Anke; Whitcroft, Katherine L; Bolz, Hanno J; Ishihara, Kenji; MacLaren, Robert E; Downes, Susan M; Oishi, Akio; Zrenner, Eberhart; Kohl, Susanne; Hummel, Thomas.
In: JAMA OPHTHALMOL, Vol. 136, No. 7, 01.07.2018, p. 761-769.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Harvard
APA
Vancouver
Bibtex
}
RIS
TY - JOUR
T1 - Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa
AU - Charbel Issa, Peter
AU - Reuter, Peggy
AU - Kühlewein, Laura
AU - Birtel, Johannes
AU - Gliem, Martin
AU - Tropitzsch, Anke
AU - Whitcroft, Katherine L
AU - Bolz, Hanno J
AU - Ishihara, Kenji
AU - MacLaren, Robert E
AU - Downes, Susan M
AU - Oishi, Akio
AU - Zrenner, Eberhart
AU - Kohl, Susanne
AU - Hummel, Thomas
PY - 2018/7/1
Y1 - 2018/7/1
N2 - IMPORTANCE: Co-occurrence of retinitis pigmentosa (RP) and olfactory dysfunction may have a common genetic cause.OBJECTIVE: To report 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.DESIGN, SETTING, AND PARTICIPANTS: This case series was conducted from August 2015 through July 2017. The setting was a multicenter study involving 4 tertiary referral centers for inherited retinal dystrophies. Participants were 9 patients with CNGB1-associated RP.MAIN OUTCOMES AND MEASURES: Results of olfactory testing, ocular phenotyping, and molecular genetic testing using targeted next-generation sequencing.RESULTS: Nine patients were included in the study, 3 of whom were female. Their ages ranged between 34 and 79 years. All patients had an early onset of night blindness but were usually not diagnosed as having RP before the fourth decade because of slow retinal degeneration. Retinal features were characteristic of a rod-cone dystrophy. Olfactory testing revealed reduced or absent olfactory function, with all except one patient scoring in the lowest quartile in relation to age-related norms. Brain magnetic resonance imaging and electroencephalography measurements in response to olfactory stimulation were available for 1 patient and revealed no visible olfactory bulbs and reduced responses to odor, respectively. Molecular genetic testing identified 5 novel (c.1312C>T, c.2210G>A, c.2492+1G>A, c.2763C>G, and c.3044_3050delGGAAATC) and 5 previously reported mutations in CNGB1.CONCLUSIONS AND RELEVANCE: Mutations in CNGB1 may cause an autosomal recessive RP-olfactory dysfunction syndrome characterized by a slow progression of retinal degeneration and variable anosmia or hyposmia.
AB - IMPORTANCE: Co-occurrence of retinitis pigmentosa (RP) and olfactory dysfunction may have a common genetic cause.OBJECTIVE: To report 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.DESIGN, SETTING, AND PARTICIPANTS: This case series was conducted from August 2015 through July 2017. The setting was a multicenter study involving 4 tertiary referral centers for inherited retinal dystrophies. Participants were 9 patients with CNGB1-associated RP.MAIN OUTCOMES AND MEASURES: Results of olfactory testing, ocular phenotyping, and molecular genetic testing using targeted next-generation sequencing.RESULTS: Nine patients were included in the study, 3 of whom were female. Their ages ranged between 34 and 79 years. All patients had an early onset of night blindness but were usually not diagnosed as having RP before the fourth decade because of slow retinal degeneration. Retinal features were characteristic of a rod-cone dystrophy. Olfactory testing revealed reduced or absent olfactory function, with all except one patient scoring in the lowest quartile in relation to age-related norms. Brain magnetic resonance imaging and electroencephalography measurements in response to olfactory stimulation were available for 1 patient and revealed no visible olfactory bulbs and reduced responses to odor, respectively. Molecular genetic testing identified 5 novel (c.1312C>T, c.2210G>A, c.2492+1G>A, c.2763C>G, and c.3044_3050delGGAAATC) and 5 previously reported mutations in CNGB1.CONCLUSIONS AND RELEVANCE: Mutations in CNGB1 may cause an autosomal recessive RP-olfactory dysfunction syndrome characterized by a slow progression of retinal degeneration and variable anosmia or hyposmia.
KW - Adult
KW - Aged
KW - Cyclic Nucleotide-Gated Cation Channels/genetics
KW - DNA Mutational Analysis
KW - Electroencephalography
KW - Electroretinography
KW - Female
KW - High-Throughput Nucleotide Sequencing
KW - Humans
KW - Magnetic Resonance Imaging
KW - Male
KW - Middle Aged
KW - Mutation
KW - Olfaction Disorders/diagnosis
KW - Olfactory Perception
KW - Ophthalmoscopy
KW - Phenotype
KW - Retinitis Pigmentosa/diagnosis
KW - Tomography, Optical Coherence
U2 - 10.1001/jamaophthalmol.2018.1621
DO - 10.1001/jamaophthalmol.2018.1621
M3 - SCORING: Journal article
C2 - 29800053
VL - 136
SP - 761
EP - 769
JO - JAMA OPHTHALMOL
JF - JAMA OPHTHALMOL
SN - 2168-6165
IS - 7
ER -