Congenital stationary night blindness: mutation update and clinical variability

Adv Exp Med Biol. 2012:723:371-9. doi: 10.1007/978-1-4614-0631-0_48.

Authors

Nidhi Lodha¹, Catrina M Loucks, Chandree Beaulieu, Jillian S Parboosingh, N Torben Bech-Hansen

Affiliation

¹ Department of Medical Genetics, University of Calgary, and Alberta Children's Hospital Research Institute, Heritage Medical Research Building, Room No 258, Calgary, AB, Canada. nlodha@ucalgary.ca

PMID: 22183355
DOI: 10.1007/978-1-4614-0631-0_48

No abstract available

MeSH terms

Calcium Channels, L-Type / genetics
Chromosomes, Human, X / genetics
Cohort Studies
Cyclic Nucleotide Phosphodiesterases, Type 4 / genetics
Eye Diseases, Hereditary
Female
Frameshift Mutation / genetics
Gene Deletion
Genetic Diseases, X-Linked
Genetic Variation*
Humans
Male
Mutation / genetics*
Mutation, Missense / genetics
Myopia / congenital
Myopia / genetics*
Myopia / physiopathology*
Night Blindness / congenital
Night Blindness / genetics*
Night Blindness / physiopathology*
Proteoglycans / genetics
Receptors, Metabotropic Glutamate / genetics
Retrospective Studies
Visual Acuity / genetics
tRNA Methyltransferases / genetics

Substances

CACNA1F protein, human
Calcium Channels, L-Type
NYX protein, human
Proteoglycans
Receptors, Metabotropic Glutamate
metabotropic glutamate receptor 6
N(2),N(2)-dimethylguanosine-26-methyltransferase
tRNA Methyltransferases
Cyclic Nucleotide Phosphodiesterases, Type 4

Supplementary concepts

Night blindness, congenital stationary