دورية أكاديمية
أعرض في EDS

Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.

التفاصيل البيبلوغرافية
العنوان: Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.
المؤلفون: Bijveld MM; Bartiméus Institute for the Visually Impaired, Zeist, The Netherlands; MOVE Research Institute, Faculty of Human Movement Sciences, VU University, Amsterdam, The Netherlands. Electronic address: miekebijveld@gmail.com., Florijn RJ, Bergen AA, van den Born LI, Kamermans M, Prick L, Riemslag FC, van Schooneveld MJ, Kappers AM, van Genderen MM
المصدر: Ophthalmology [Ophthalmology] 2013 Oct; Vol. 120 (10), pp. 2072-81. Date of Electronic Publication: 2013 May 25.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 7802443 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1549-4713 (Electronic) Linking ISSN: 01616420 NLM ISO Abbreviation: Ophthalmology Subsets: MEDLINE
أسماء مطبوعة: Publication: 2000- : New York : Elsevier
Original Publication: Rochester, Minn., American Academy of Ophthalmology.
مواضيع طبية MeSH: Eye Diseases, Hereditary/*genetics , Eye Proteins/*genetics , Genetic Diseases, X-Linked/*genetics , Myopia/*genetics , Night Blindness/*genetics, Adolescent ; Adult ; Child ; Child, Preschool ; Cohort Studies ; Electroretinography ; Eye Diseases, Hereditary/physiopathology ; Female ; Genetic Diseases, X-Linked/physiopathology ; Genotype ; Humans ; Infant ; Male ; Middle Aged ; Mutation ; Myopia/physiopathology ; Netherlands ; Night Blindness/physiopathology ; Phenotype ; Refractive Errors ; Sensory Thresholds/physiology ; Visual Acuity/physiology ; Young Adult
مستخلص: Objective: To investigate the relative frequency of the genetic causes of the Schubert-Bornschein type of congenital stationary night blindness (CSNB) and to determine the genotype-phenotype correlations in CSNB1 and CSNB2.
Design: Clinic-based, longitudinal, multicenter study.
Participants: A total of 39 patients with CSNB1 from 29 families and 62 patients with CSNB2 from 43 families.
Methods: Patients underwent full ophthalmologic and electrophysiologic examinations. On the basis of standard electroretinograms (ERGs), patients were diagnosed with CSNB1 or CSNB2. Molecular analysis was performed by direct Sanger sequencing of the entire coding regions in NYX, TRPM1, GRM6, and GPR179 in patients with CSNB1 and CACNA1F and CABP4 in patients with CSNB2.
Main Outcome Measures: Data included genetic cause of CSNB, refractive error, visual acuity, nystagmus, strabismus, night blindness, photophobia, color vision, dark adaptation (DA) curve, and standard ERGs.
Results: A diagnosis of CSNB1 or CSNB2 was based on standard ERGs. The photopic ERG was the most specific criterion to distinguish between CSNB1 and CSNB2 because it showed a "square-wave" appearance in CSNB1 and a decreased b-wave in CSNB2. Mutations causing CSNB1 were found in NYX (20 patients, 13 families), TRPM1 (10 patients, 9 families), GRM6 (4 patients, 3 families), and GPR179 (2 patients, 1 family). Congenital stationary night blindness 2 was primarily caused by mutations in CACNA1F (55 patients, 37 families). Only 3 patients had causative mutations in CABP4 (2 families). Patients with CSNB1 mainly had rod-related problems, and patients with CSNB2 had rod- and cone-related problems. The visual acuity on average was better in CSNB1 (0.30 logarithm of the minimum angle of resolution [logMAR]) than in CSNB2 (0.52 logMAR). All patients with CSNB1 and only 54% of the patients with CSNB2 reported night blindness. The dark-adapted threshold was on average more elevated in CSNB1 (3.0 log) than in CSNB2 (1.8 log). The 3 patients with CABP4 had a relative low visual acuity, were hyperopic, had severe nonspecific color vision defects, and had only 1.0 log elevated DA threshold.
Conclusions: Congenital stationary night blindness 1, despite different causative mutations, shows 1 unique CSNB1 phenotype. Congenital stationary night blindness 2 caused by mutations in CABP4 merely shows cone-related problems and therefore appears to be distinct from CSNB2 caused by mutations in CACNA1F.
Financial Disclosure(s): The author(s) have no proprietary or commercial interest in any materials discussed in this article.
(Copyright © 2013 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.)
التعليقات: Comment in: Ophthalmology. 2014 Mar;121(3):e15. (PMID: 24332535)
المشرفين على المادة: 0 (Eye Proteins)
SCR Disease Name: Night blindness, congenital stationary
تواريخ الأحداث: Date Created: 20130530 Date Completed: 20131118 Latest Revision: 20220408
رمز التحديث: 20240628
DOI: 10.1016/j.ophtha.2013.03.002
PMID: 23714322
قاعدة البيانات: MEDLINE
الوصف
تدمد:1549-4713
DOI:10.1016/j.ophtha.2013.03.002