Universität zu Köln

Issa, Peter Charbel ORCID: 0000-0002-0351-6673, Reuter, Peggy, Kuhlewein, Laura, Birtel, Johannes, Gliem, Martin, Tropitzsch, Anke, Whitcroft, Katherine L., Bolz, Hanno J., Ishihara, Kenji, MacLaren, Robert E., Downes, Susan M., Oishi, Akio ORCID: 0000-0002-0977-9458, Zrenner, Eberhart, Kohl, Susanne and Hummel, Thomas (2018). Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa. JAMA Ophthalmol., 136 (7). S. 761 - 770. CHICAGO: AMER MEDICAL ASSOC. ISSN 2168-6173

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Abstract

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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Issa, Peter Charbel UNSPECIFIED orcid.org/0000-0002-0351-6673 UNSPECIFIED Reuter, Peggy UNSPECIFIED UNSPECIFIED UNSPECIFIED Kuhlewein, Laura UNSPECIFIED UNSPECIFIED UNSPECIFIED Birtel, Johannes UNSPECIFIED UNSPECIFIED UNSPECIFIED Gliem, Martin UNSPECIFIED UNSPECIFIED UNSPECIFIED Tropitzsch, Anke UNSPECIFIED UNSPECIFIED UNSPECIFIED Whitcroft, Katherine L. UNSPECIFIED UNSPECIFIED UNSPECIFIED Bolz, Hanno J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Ishihara, Kenji UNSPECIFIED UNSPECIFIED UNSPECIFIED MacLaren, Robert E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Downes, Susan M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Oishi, Akio UNSPECIFIED orcid.org/0000-0002-0977-9458 UNSPECIFIED Zrenner, Eberhart UNSPECIFIED UNSPECIFIED UNSPECIFIED Kohl, Susanne UNSPECIFIED UNSPECIFIED UNSPECIFIED Hummel, Thomas UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-181504
DOI:	10.1001/jamaophthalmol.2018.1621
Journal or Publication Title:	JAMA Ophthalmol.
Volume:	136
Number:	7
Page Range:	S. 761 - 770
Date:	2018
Publisher:	AMER MEDICAL ASSOC
Place of Publication:	CHICAGO
ISSN:	2168-6173
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language NUCLEOTIDE-GATED CHANNEL; ACID-RICH PROTEINS; MOLECULAR DIAGNOSIS; BETA-SUBUNIT; ODOR DISCRIMINATION; PAKISTANI FAMILIES; USHER-SYNDROME; LARGE COHORT; IDENTIFICATION; MUTATIONS Multiple languages Ophthalmology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/18150