Oguchi disease

小口病

WordNet

1. an impairment of health or a condition of abnormal functioning
2. caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological

PrepTutorEJDIC

1. (体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
2. 女性の話術芸人 =diseur
3. 病気にかかった / 病的な,不健全な(morbid)

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/01/29 17:41:22」(JST)

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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, is an autosomal recessive 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 is thought to be caused by the overstimulation of rod cells.

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.

Type	OMIM	Gene
Type 1	258100	SAG
Type 2	613411	GRK1

The condition is more frequent in individuals of Japanese ethnicity.

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

External links

• Oguchi disease at NIH's Office of Rare Diseases

English Journal

• A non-stop S-antigen gene mutation is associated with late onset hereditary retinal degeneration in dogs.

• Goldstein O1, Jordan JA, Aguirre GD, Acland GM.Author information 1Baker Institute for Animal Health, Cornell University College of Veterinary Medicine, Ithaca, NY.AbstractPURPOSE: To identify the causative mutation of canine progressive retinal atrophy (PRA) segregating as an adult onset autosomal recessive disorder in the Basenji breed of dog.
• Molecular vision.Mol Vis.2013 Aug 27;19:1871-84. eCollection 2013.
• PURPOSE: To identify the causative mutation of canine progressive retinal atrophy (PRA) segregating as an adult onset autosomal recessive disorder in the Basenji breed of dog.METHODS: Basenji dogs were ascertained for the PRA phenotype by clinical ophthalmoscopic examination. Blood samples from six
• PMID 24019744

• Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease.

• Godara P1, Cooper RF, Sergouniotis PI, Diederichs MA, Streb MR, Genead MA, McAnany JJ, Webster AR, Moore AT, Dubis AM, Neitz M, Dubra A, Stone EM, Fishman GA, Han DP, Michaelides M, Carroll J.Author information 1Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, WI, USA.AbstractPURPOSE: To examine retinal structure and changes in photoreceptor intensity after dark adaptation in patients with complete congenital stationary night blindness and Oguchi disease.
• American journal of ophthalmology.Am J Ophthalmol.2012 Dec;154(6):987-1001.e1. doi: 10.1016/j.ajo.2012.06.003. Epub 2012 Sep 7.
• PURPOSE: To examine retinal structure and changes in photoreceptor intensity after dark adaptation in patients with complete congenital stationary night blindness and Oguchi disease.DESIGN: Prospective, observational case series.METHODS: We recruited 3 patients with complete congenital stationary ni
• PMID 22959359

• Potential cellular functions of N-ethylmaleimide sensitive factor in the photoreceptor.

• Huang SP1, Craft CM.Author information 1Mary D. Allen Laboratory for Vision Research, Doheny Eye Institute, Department of Ophthalmology, Keck School of Medicine of the University of Southern California, Los Angeles, CA 90033-9224, USA.AbstractRecent work has established potential new functional roles for NSF in the photoreceptor. First, the interaction of Arr1 and NSF is ATP-dependent, and the N-terminal domain of Arr1 interacts with the N and D1 junctional domains of NSF. The Arr1-NSF interactions are greater in the photoreceptor synaptic terminal in the dark. Furthermore, Arr1 enhances the NSF ATPase activity and increases the NSF disassembly activities, which are critical for NSF functions in sustaining a higher rate of exocytosis in the photoreceptor synapses and the compensatory endocytosis to retrieve vesicle membrane and vesicle proteins for vesicle recycling. These data demonstrate the Arr1 and NSF interaction are necessary for both maintenance and modulation of normal photoreceptor synaptic regulation. Second, NSF colocalizes and specifically binds to RP2, especially in the ciliary and synaptic region of the photoreceptor, and NSF-RP2 interaction may play an important role in membrane protein trafficking in the photoreceptor. Inherited retinal degeneration affects about 1 in 2,000-3,000 individuals in the world and is the leading cause of visual loss in young people and accounts for a large proportion of blindness in adult life. These studies accelerate our ability to gain insight into the diverse roles of the NSF in the photoreceptor cells and enable us to understand more precisely the molecular mechanisms underlying night blindness associated with clinically diagnosed Oguchi disease or other forms of retinitis pigmentosa.
• Advances in experimental medicine and biology.Adv Exp Med Biol.2012;723:791-7. doi: 10.1007/978-1-4614-0631-0_101.
• Recent work has established potential new functional roles for NSF in the photoreceptor. First, the interaction of Arr1 and NSF is ATP-dependent, and the N-terminal domain of Arr1 interacts with the N and D1 junctional domains of NSF. The Arr1-NSF interactions are greater in the photoreceptor synapt
• PMID 22183408

Japanese Journal

• High concentrations of omega-3 fatty acids are associated with the development of atrial fibrillation in the Japanese population

• Tomita Takeshi,Hata Takeki,Takeuchi Takahiro,Oguchi Yasutaka,Okada Ayako,Aizawa Kazunori,Koshikawa Megumi,Otagiri Kyuhachi,Motoki Hirohiko,Kasai Hiroki,Izawa Atsushi,Koyama Jun,Hongo Minoru,Ikeda Uichi
• HEART AND VESSELS 28(4), 497-504, 2013-06
• … We evaluated the serum concentrations of n-3 PUFAs in 110 patients with AF, 46 patients with ischemic heart disease (IHD) and no AF, and 36 healthy volunteers. …
• NAID 120005366107

• リハビリテーションにてめまいの改善をみとめた Fabry 病の1症例

• 小口 智啓,福岡 久邦,塚田 景大,小林 克彦,工 穣,宇佐美 真一
• Equilibrium research 71(4), 242-246, 2012-08-01
• NAID 10031026753

• 微小変化群のネフローゼ症候群に合併した急性腎障害に血漿交換療法を併用した2例

• 小口 英世,村上 円人,荒木 崇志,目黒 真理子,橋口 明典,佐藤 崇,神戸 香織,重原 理宏
• 日本透析医学会雑誌 = Journal of Japanese Society for Dialysis Therapy 45(2), 179-185, 2012-02-28
• NAID 10030813409

Related Links

• Oguchi disease - definition of Oguchi disease in the Medical ...

Definition of Oguchi disease in the Medical Dictionary. Oguchi disease explanation. Information about Oguchi disease in Free online English dictionary. What is Oguchi disease? Meaning of Oguchi disease medical term. What ...

• Oguchi's disease - 高度眼科医療のアイケア名古屋

Oguchi's disease, first described by Chuta Oguchi in 1907. is a rare autosomal recessive trait characterized by congenital stationary night blindness and an unique morphological and functional abnormality of the retina. Patients have ...

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★リンクテーブル★

リンク元	「小口病」
関連記事	「disease」

「小口病」

　　[★]

英

Oguchi disease, Oguchi's disease

ラ

morbus Oguchii

「disease」

　　[★]

• n.

疾患：illnessより厳密な概念。「ある臓器に明確な障害が確認され、それによって症状が出ているとはっきり説明できる場合」 (PSY.9)

特定の原因、病態生理、症状、経過、予後、病理組織所見が全てそろった場合 (PSY.9)

• something that is very wrong with people's attitudes, way of life or with society.

関

ail、ailment、disease entity、disorder、ill、illness、malady、sick、sickness

• 注意

disease ≠ illness ≠ disorder