scholarly journals Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark

2016 ◽  
Vol 57 (15) ◽  
pp. 6861 ◽  
Author(s):  
Marianne N. Hove ◽  
Kevser Z. Kilic-Biyik ◽  
Alana Trotter ◽  
Karen Grønskov ◽  
Birgit Sander ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Night Blindness ◽  
Mutation Spectrum ◽  
Eye Disease ◽  
Congenital Stationary Night Blindness

scholarly journals Stationary and Progressive Phenotypes Caused by the p.G90D Mutation in Rhodopsin Gene

2021 ◽  
Vol 22 (4) ◽  
pp. 2133
Author(s):  
Nina Kobal ◽  
Tjaša Krašovec ◽  
Maja Šuštar ◽  
Marija Volk ◽  
Borut Peterlin ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Visual Field ◽  
Cystoid Macular Edema ◽  
Clinical Characteristics ◽  
Night Blindness ◽  
Fundus Autofluorescence ◽  
Congenital Stationary Night Blindness ◽  
Rhodopsin Gene ◽  
Full Characterization ◽  
Large Frequency

Mutations in rhodopsin gene (RHO) are a frequent cause of retinitis pigmentosa (RP) and less often, congenital stationary night blindness (CSNB). Mutation p.G90D has previously been associated with CSNB based on the examination of one family. This study screened 60 patients. Out of these 60 patients, 32 were affected and a full characterization was conducted in 15 patients. We described the clinical characteristics of these 15 patients (12 male, median age 42 years, range 8–71) from three families including visual field (Campus Goldmann), fundus autofluorescence (FAF), optical coherence tomography (OCT) and electrophysiology. Phenotypes were classified into four categories: CSNB (N = 3, 20%) sector RP (N = 3, 20%), pericentral RP (N = 1, 6.7%) and classic RP (N = 8, 53.3% (8/15)). The phenotypes were not associated with family, sex or age (Kruskal–Wallis, p > 0.05), however, cystoid macular edema (CME) was observed only in one family. Among the subjects reporting nyctalopia, 69% (22/32) were male. The clinical characteristics of the largest p.G90D cohort so far showed a large frequency of progressive retinal degeneration with 53.3% developing RP, contrary to the previous report.

scholarly journals A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness

Genes ◽  
2021 ◽  
Vol 12 (2) ◽  
pp. 171
Author(s):  
Usman Mahmood ◽  
Cécile Méjécase ◽  
Syed M. A. Ali ◽  
Mariya Moosajee ◽  
Igor Kozak
Keyword(s):  
Splice Site ◽  
Night Blindness ◽  
Eye Disease ◽  
Congenital Stationary Night Blindness ◽  
Related Disease ◽  
Color Vision Defect ◽  
Vision Defect ◽  
Novel Variant ◽  
Splice Site Variant ◽  
Genotype Correlation

Background: CACNA1F-related disorders encompass progressive and non-progressive disorders, including Åland island eye disease and incomplete congenital stationary night blindness. These two X-linked disorders are characterized by nystagmus, color vision defect, myopia, and electroretinography (ERG) abnormalities. Ocular hypopigmentation and iris transillumination are reported only in patients with Åland island eye disease. Around 260 variants were reported to be associated with these two non-progressive disorders, with 19 specific to Åland island eye disease and 14 associated with both Åland island eye disease and incomplete congenital stationary night blindness. CACNA1F variants spread on the gene and further analysis are needed to reveal phenotype-genotype correlation. Case Report: A complete ocular exam and genetic testing were performed on a 13-year-old boy. A novel splice-site variant, c.4294-11C>G in intron 36 in CACNA1F, was identified at hemizygous state in the patient and at heterozygous state in his asymptomatic mother and explained the phenotype synonymous with Åland island eye disease and incomplete congenital stationary night blindness observed in the patient. Conclusion: We present a novel variant in the CACNA1F gene causing phenotypic and electrophysiologic findings indistinguishable from those of AIED/CSNB2A disease. This finding further expands the mutational spectrum and our knowledge of CACNA1F-related disease.

scholarly journals Substantial restoration of night vision in adult mice with congenital stationary night blindness

2021 ◽  
Author(s):  
Juliette Varin ◽  
Nassima Bouzidi ◽  
Gregory Gauvain ◽  
Corentin Joffrois ◽  
Melissa Desrosiers ◽  
...  
Keyword(s):  
Night Blindness ◽  
Night Vision ◽  
Congenital Stationary Night Blindness ◽  
Adult Mice

Complete congenital stationary night blindness associated with a novel NYX variant (p.Asn216Lys) in middle-aged and older adult patients

2021 ◽  
pp. 1-8
Author(s):  
Takaaki Hayashi ◽  
Yusuke Murakami ◽  
Kei Mizobuchi ◽  
Yoshito Koyanagi ◽  
Koh-Hei Sonoda ◽  
...  
Keyword(s):  
Older Adult ◽  
Night Blindness ◽  
Adult Patients ◽  
Congenital Stationary Night Blindness ◽  
Middle Aged

scholarly journals A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene

2011 ◽  
Vol 90 (3) ◽  
pp. e192-e197 ◽  
Author(s):  
Panagiotis I. Sergouniotis ◽  
Anthony G. Robson ◽  
Zheng Li ◽  
Sophie Devery ◽  
Graham E. Holder ◽  
...  
Keyword(s):  
Night Blindness ◽  
Congenital Stationary Night Blindness

scholarly journals Abnormalities of the long flash ERG in congenital stationary night blindness of the Schubert–Bornschein type

2002 ◽  
Vol 42 (11) ◽  
pp. 1475-1483 ◽  
Author(s):  
Hana Langrová ◽  
Daphne Gamer ◽  
Christoph Friedburg ◽  
Dorothea Besch ◽  
Eberhart Zrenner ◽  
...  
Keyword(s):  
Night Blindness ◽  
Congenital Stationary Night Blindness

scholarly journals Intravitreal delivery of a novel AAV vector targets ON bipolar cells and restores visual function in a mouse model of complete congenital stationary night blindness

2015 ◽  
Vol 24 (21) ◽  
pp. 6229-6239 ◽  
Author(s):  
Miranda L. Scalabrino ◽  
Sanford L. Boye ◽  
Kathryn M. H. Fransen ◽  
Jennifer M. Noel ◽  
Frank M. Dyka ◽  
...  
Keyword(s):  
Mouse Model ◽  
Visual Function ◽  
Night Blindness ◽  
Bipolar Cells ◽  
Congenital Stationary Night Blindness ◽  
Aav Vector

scholarly journals Cone dystrophy and ectopic synaptogenesis in a Cacna1f loss of function model of congenital stationary night blindness (CSNB2A)

Channels ◽  
2018 ◽  
Vol 12 (1) ◽  
pp. 17-33 ◽  
Author(s):  
D. M. Waldner ◽  
N. C. Giraldo Sierra ◽  
S. Bonfield ◽  
L. Nguyen ◽  
I. S. Dimopoulos ◽  
...  
Keyword(s):  
Night Blindness ◽  
Cone Dystrophy ◽  
Congenital Stationary Night Blindness ◽  
Loss Of Function ◽  
Function Model
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