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Oguchi disease-2(CSNBO2)

MedGen UID:
462028
Concept ID:
C3150678
Disease or Syndrome
Synonym: NIGHT BLINDNESS, CONGENITAL STATIONARY, OGUCHI TYPE 2
 
Gene (location): GRK1 (13q34)
 
Monarch Initiative: MONDO:0013259
OMIM®: 613411

Definition

Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness in which all other visual functions, including visual acuity, visual field, and color vision, are usually normal. A typical feature of the disease is a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and reappears shortly after the onset of light (Mizuo phenomenon). The course of dark adaptation of rod photoreceptors is extremely retarded, whereas that of cones appears to proceed normally (summary by Fuchs et al., 1995). For a general description and a discussion of genetic heterogeneity of Oguchi disease, see CSNBO1 (258100). [from OMIM]

Clinical features

From HPO
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.
Mizuo phenomenon
MedGen UID:
896050
Concept ID:
C4280748
Finding
Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14].

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

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