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Congenital stationary night blindness, type 2A(CSNB2A)

MedGen UID:
376299
Concept ID:
C1848172
Disease or Syndrome
Synonyms: CACNA1F-Related X-Linked Congenital Stationary Night Blindness; Congenital Stationary Night Blindness, X-Linked; CSNB, INCOMPLETE, X-LINKED; CSNB2A; NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2
Modes of inheritance:
X-linked inheritance
MedGen UID:
66838
Concept ID:
C0241764
Genetic Function
Source: HPO
A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome.
Heterogeneous
MedGen UID:
67020
Concept ID:
C0242960
Organism Attribute
Source: HPO
The production of the same or similar phenotypes (observed biochemical, physiological, and morphological characteristics of a person determined by his/her genotype) by different genetic mechanisms. There are two types: (1) allelic heterogeneity - when different alleles at a locus can produce variable expression of a condition; and (2) locus heterogeneity - the term used to describe disease in which mutations at different loci can produce the same disease phenotype.
 
Gene (location): CACNA1F (Xp11.23)
OMIM®: 300071

Disease characteristics

Excerpted from the GeneReview: X-Linked Congenital Stationary Night Blindness
X-linked congenital stationary night blindness (CSNB) is characterized by: non-progressive retinal findings of reduced visual acuity ranging from 20/30 to 20/200; defective dark adaptation; refractive error, most typically myopia ranging from low (-0.25 diopters [D] to -4.75 D) to high (≥-10.00 D) but occasionally hyperopia; nystagmus; strabismus; normal color vision; and normal fundus examination. Two overlapping, yet distinct, phenotypes are recognized: Complete CSNB (CSNB1A), caused by pathogenic variants in NYX (45%). Incomplete CSNB (CSNB2A), caused by pathogenic variants in CACNA1F (55%). [from GeneReviews]
Authors:
Kym M Boycott  |  Yves Sauvé  |  Ian M MacDonald   view full author information

Additional description

From GHR
X-linked congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing in low light (night blindness). They also have other vision problems, including loss of sharpness (reduced acuity), severe nearsightedness (high myopia), involuntary movements of the eyes (nystagmus), and eyes that do not look in the same direction (strabismus). Color vision is typically not affected by this disorder.The vision problems associated with this condition are congenital, which means they are present from birth. They tend to remain stable (stationary) over time.Researchers have identified two major types of X-linked congenital stationary night blindness: the complete form and the incomplete form. The types have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause and by the results of a test called an electroretinogram, which measures the function of the retina.  https://ghr.nlm.nih.gov/condition/x-linked-congenital-stationary-night-blindness

Clinical features

Visual impairment
MedGen UID:
22663
Concept ID:
C0042798
Finding
Vision considered to be inferior to normal vision as represented by accepted standards of acuity, field of vision, or motility. Low vision generally refers to visual disorders that are caused by diseases that cannot be corrected by refraction (e.g., MACULAR DEGENERATION; RETINITIS PIGMENTOSA; DIABETIC RETINOPATHY, etc.).
Congenital stationary night blindness
MedGen UID:
83289
Concept ID:
C0339535
Congenital Abnormality
X-linked congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing in low light (night blindness). They also have other vision problems, including loss of sharpness (reduced acuity), severe nearsightedness (high myopia), involuntary movements of the eyes (nystagmus), and eyes that do not look in the same direction (strabismus). Color vision is typically not affected by this disorder.The vision problems associated with this condition are congenital, which means they are present from birth. They tend to remain stable (stationary) over time.Researchers have identified two major types of X-linked congenital stationary night blindness: the complete form and the incomplete form. The types have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause and by the results of a test called an electroretinogram, which measures the function of the retina.
Decreased central vision
MedGen UID:
461148
Concept ID:
C3149798
Finding

Recent clinical studies

Clinical prediction guides

Michalakis S, Shaltiel L, Sothilingam V, Koch S, Schludi V, Krause S, Zeitz C, Audo I, Lancelot ME, Hamel C, Meunier I, Preising MN, Friedburg C, Lorenz B, Zabouri N, Haverkamp S, Garcia Garrido M, Tanimoto N, Seeliger MW, Biel M, Wahl-Schott CA
Hum Mol Genet 2014 Mar 15;23(6):1538-50. Epub 2013 Oct 26 doi: 10.1093/hmg/ddt541. [Epub ahead of print] PMID: 24163243Free PMC Article

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