Pseudodominant inheritance of autosomal recessive congenital stationary night blindness in one family with three co‐segregating deleterious GRM6 variants identified by next‐generation sequencing
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.952
Abstract: The congenital stationary night blindness (CSNB) affects the patients' dim light vision or dark adaption by impairing the normal function of retina. It is a clinically and genetically heterogeneous disorder and can be inherited in… read more here.
Keywords: stationary night; congenital stationary; autosomal recessive; night blindness ... See more keywords
Multimodal imaging in Schubert-Bornschein congenital stationary night blindness.
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic genetics"
DOI: 10.1080/13816810.2022.2135108
Abstract: BACKGROUND Schubert-Bornschein (SB) is the most common type of people with congenital stationary night blindness (CSNB). The aim of the study is to describe the optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA)… read more here.
Keywords: multimodal imaging; congenital stationary; stationary night; schubert bornschein ... See more keywords
Long-Term Clinical Course in a Patient with Complete Congenital Stationary Night Blindness
Sign Up to like & getrecommendations! Published in 2017 at "Case Reports in Ophthalmology"
DOI: 10.1159/000462961
Abstract: Background: This report describes a 45-year-old man with complete congenital stationary night blindness (CSNB1) who has been followed up for 38 years. Case: The patient first visited our hospital as a 7-year-old boy with a… read more here.
Keywords: clinical course; congenital stationary; night blindness; stationary night ... See more keywords
Cav1.4 congenital stationary night blindness is associated with an increased rate of proteasomal degradation
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2023.1161548
Abstract: Pathogenic, generally loss-of-function, variants in CACNA1F, encoding the Cav1.4α1 calcium channel, underlie congenital stationary night blindness type 2 (CSNB2), a rare inherited retinal disorder associated with visual disability. To establish the underlying pathomechanism, we investigated… read more here.
Keywords: cav1; stationary night; night blindness; congenital stationary ... See more keywords
Mice Lacking Gpr179 with Complete Congenital Stationary Night Blindness Are a Good Model for Myopia
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24010219
Abstract: Mutations in GPR179 are one of the most common causes of autosomal recessive complete congenital stationary night blindness (cCSNB). This retinal disease is characterized in patients by impaired dim and night vision, associated with other… read more here.
Keywords: complete congenital; myopia; congenital stationary; night ... See more keywords