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Congenital stationary night blindness 1G(CSNB1G)

MedGen UID:
906532
Concept ID:
C4225345
Disease or Syndrome
Synonyms: CSNB1G; NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G
 
Gene (location): GNAT1 (3p21.31)
 
Monarch Initiative: MONDO:0014614
OMIM®: 616389

Definition

A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the GNAT1 gene on chromosome 3p21. [from MONDO]

Clinical features

From HPO
Constriction of peripheral visual field
MedGen UID:
68613
Concept ID:
C0235095
Finding
An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.
Congenital stationary night blindness
MedGen UID:
83289
Concept ID:
C0339535
Congenital Abnormality
A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset.
Optic disc pallor
MedGen UID:
108218
Concept ID:
C0554970
Finding
A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Rod-cone dystrophy
MedGen UID:
1632921
Concept ID:
C4551714
Disease or Syndrome
An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.

Recent clinical studies

Diagnosis

Tawfik CA, Elbagoury NM, Khater NI, Essawi ML
BMC Ophthalmol 2022 May 12;22(1):217. doi: 10.1186/s12886-022-02444-5. PMID: 35549688Free PMC Article
Pilotto E, Trevisson E, Nacci EB, Longhin E, Guidolin F, Midena E
Eur J Ophthalmol 2022 Nov;32(6):NP1-NP5. Epub 2021 Jun 24 doi: 10.1177/11206721211027422. PMID: 34162253

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