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Cognitive Psychology: Attention · Decision making · Learning · Judgement · Memory · Motivation · Perception · Reasoning · Thinking - Cognitive processes Cognition - Outline Index
Oguchi disease | |
---|---|
Classification and external resources | |
ICD-9 | 368.61 |
OMIM | 258100 |
Oguchi disease, also called congenital stationary night blindness, Oguchi type 1 or Oguchi disease 1,[1] is an autosomal recessive[2] form of congenital stationary night blindness associated with fundus discoloration and abnormally slow dark adaptation.
Clinical features
Oguchi disease present with nonprogressive night blindness since young childhood or birth with normal day vision, but they frequently claim improvement of light sensitivities when they remain for some time in a darkened environment.
On examination patients have normal visual fields but the fundi have a diffuse or patchy, silver-gray or golden-yellow metallic sheen and the retinal vessels stand out in relief against the background.
A prolonged dark adaptation of three hours or more, leads to disappearance of this unusual discoloration and the appearance of a normal reddish appearance. This is known as the Mizuo-Nakamura phenomena and and is thought to be caused by the overstimulation of rod cells.[3]
Differential diagnosis
Other conditions with similar appearing fundi include
- Cone dystrophy
- X-linked retinitis pigmentosa
- Juvenile macular dystrophy
These conditions do not show the Mizuo-Nakamura phenomenon.
Electroretinographic studies
Oguchi's disease is unique in its electroretinographic responses in the light- and dark-adapted conditions. The A- and b-waves on single flash electroretinograms (ERG) are decreased or absent under lighted conditions but increase after prolonged dark adaptation. There are nearly undetectable rod b waves in the scotopic 0.01 ERG and nearly negative scotopic 3.0 ERGs.
Dark-adaptation studies have shown that highly elevated rod thresholds decrease several hours later and eventually result in a recovery to the normal or nearly normal level.
The S, M and L cone systems are normal.
Cause and Genetics

Oguchi disease has an autosomal recessive pattern of inheritance.
Several mutations have been implicated as a cause of Oguchi disease. These include mutations in the arrestin gene or the rhodopsin kinase gene.[1]
Type | OMIM | Gene |
---|---|---|
Type 1 | 258100 | SAG |
Type 2 | 613411 | GRK1 |
The condition is more frequent in individuals of Japanese ethnicity.[4]
History
It was described by Chuta Oguchi (1875-1945), a Japanese ophthalmologist, in 1907. The characteristic fundal appearances were described by Mizuo in 1913.
References
- ↑ 1.0 1.1 OMIM 258100
- ↑ PMID 7616550 (PMID 7616550)
Citation will be completed automatically in a few minutes. Jump the queue or expand by hand - ↑ Hartnett, Mary Elizabeth; Antonio Capone, Michael Trese (2004). Pediatric Retina: Medical and Surgical Approaches Guide to Rare Disorders, Lippincott Williams & Wilkins.
- ↑ Oguchi Disease. Foundation Fighting Blindness. URL accessed on 2007-05-25.
External links
- Template:RareDiseases
Eye disease - pathology of the eye (H00-H59, 360-379) | |||||||||||||||
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Adnexa |
eyelid: inflammation (Stye, Chalazion, Blepharitis) - Entropion - Ectropion - Lagophthalmos - Blepharochalasis - Ptosis - Blepharophimosis - Xanthelasma - Trichiasis - Madarosis lacrimal system: Dacryoadenitis - Epiphora - Dacryocystitis orbit: Exophthalmos - Enophthalmos | ||||||||||||||
Eyeball |
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Optic nerve and visual pathways |
Optic neuritis - Papilledema - Optic atrophy - Leber's hereditary optic neuropathy - Dominant optic atrophy - Optic disc drusen - Glaucoma - Toxic and nutritional optic neuropathy - Anterior ischemic optic neuropathy | ||||||||||||||
Ocular muscles, binocular movement, accommodation and refraction |
Paralytic strabismus: Ophthalmoparesis - Progressive external ophthalmoplegia - Palsy (III, IV, VI) - Kearns-Sayre syndrome
Other strabismus: Esotropia/Exotropia - Hypertropia - Heterophoria (Esophoria, Exophoria) - Brown's syndrome - Duane syndrome | ||||||||||||||
Visual disturbances and blindness |
Amblyopia - Leber's congenital amaurosis - Subjective (Asthenopia, Hemeralopia, Photophobia, Scintillating scotoma) - Diplopia - Scotoma - Anopsia (Binasal hemianopsia, Bitemporal hemianopsia, Homonymous hemianopsia, Quadrantanopia) - Color blindness (Achromatopsia, Dichromacy, Monochromacy) - Nyctalopia (Oguchi disease) - Blindness/Low vision | ||||||||||||||
Pupil |
Anisocoria - Argyll Robertson pupil - Marcus Gunn pupil/Marcus Gunn phenomenon - Adie syndrome - Miosis - Mydriasis - Cycloplegia | ||||||||||||||
Infectious diseases |
Trachoma - Onchocerciasis | ||||||||||||||
Other |
Nystagmus - Glaucoma/Ocular hypertension - Floater - Leber's hereditary optic neuropathy - Red eye - Keratomycosis - Xerophthalmia - Phthisis bulbi | ||||||||||||||
See also congenital |
Template:Cell membrane protein disorders Template:Deficiencies of intracellular signaling peptides and proteins