Night Blindness, Congenital Stationary, Type 1h (CSNB1H)

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Disease Ontology 12 DOID:0110866 OMIM 56 617024 OMIM Phenotypic Series 56 PS310500

MeSH 43 D009755 MedGen 41 C4310758 CN237389 SNOMED-CT via HPO 68 246622003 258211005 38101003 409668002 65194006 more

OMIM : ⁵⁶ Congenital stationary night blindness type 1H (CSNB1H) is an unusual and unique stationary retinal disorder with a dual anomaly in visual processing, characterized by a partial or severe degree of ON bipolar dysfunction and variably reduced cone sensitivity. Patients present with childhood-onset night blindness and middle age-onset photophobia, but have near-normal vision and do not exhibit nystagmus or high myopia (Vincent et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A (310500). (617024)

MalaCards based summary : Night Blindness, Congenital Stationary, Type 1h, also known as csnb1h, is related to pyomyositis and malignant renovascular hypertension. An important gene associated with Night Blindness, Congenital Stationary, Type 1h is GNB3 (G Protein Subunit Beta 3), and among its related pathways/superpathways are Pathways in cancer and Development Angiotensin activation of ERK. Affiliated tissues include eye, and related phenotypes are hypermetropia and nyctalopia

Disease Ontology : ¹² A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the GNB3 gene on chromosome 12p13.

UniProtKB/Swiss-Prot : ⁷³ Night blindness, congenital stationary, 1H: A form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision or in dim light, with good vision only on bright days. CSNB1H patients present with childhood-onset night blindness and middle age-onset photophobia, but have near-normal vision and do not exhibit nystagmus or high myopia. CSNB1H inheritance is autosomal recessive.

Clinical features from OMIM:

617024

Search Clinical Trials , NIH Clinical Center for Night Blindness, Congenital Stationary, Type 1h

Search GEO for disease gene expression data for Night Blindness, Congenital Stationary, Type 1h.