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CSNB1I
MCID: NGH031
MIFTS: 18
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Night Blindness, Congenital Stationary, Type1i (CSNB1I)
Categories:
Eye diseases, Genetic diseases
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MalaCards integrated aliases for Night Blindness, Congenital Stationary, Type1i:
Name: Night Blindness, Congenital Stationary, Type1i
56
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
onset of night blindness in infancy or childhood intra- and interfamilial phenotypic variability progressive reduction in erg responses (in some patients) development of retinitis pigmentosa-like retinal degeneration in sixth decade of life (in 1 patient) Classifications: |
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UniProtKB/Swiss-Prot :
73
Night blindness, congenital stationary, 1I: 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. CSNB1I patients present with night blindness from infancy or early childhood. Visual acuity is preserved, but some patients have color vision and/or visual field defects. Progression to mild retinitis pigmentosa may occur. CSNB1I inheritance is autosomal recessive.
MalaCards based summary : Night Blindness, Congenital Stationary, Type1i, is also known as night blindness, congenital stationary, type 1i. An important gene associated with Night Blindness, Congenital Stationary, Type1i is GUCY2D (Guanylate Cyclase 2D, Retinal). Affiliated tissues include bone. OMIM : 56 Congenital stationary night blindness type 1I (CSNB1I) is characterized by night blindness from infancy or early childhood. Visual acuity is preserved, but some patients have color vision and/or visual field defects. Older patients may show retinitis pigmentosa-like retinal degeneration (Stunkel et al., 2018). (618555) |
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Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:618555 |
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MalaCards organs/tissues related to Night Blindness, Congenital Stationary, Type1i:40
Bone
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Articles related to Night Blindness, Congenital Stationary, Type1i:
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ClinVar genetic disease variations for Night Blindness, Congenital Stationary, Type1i:6
UniProtKB/Swiss-Prot genetic disease variations for Night Blindness, Congenital Stationary, Type1i:73
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Search
GEO
for disease gene expression data for Night Blindness, Congenital Stationary, Type1i.
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