眼白子症 OA
WordNet
- visible; "be sure of it; give me the ocular proof"- Shakespeare; "a visual presentation"; "a visual image" (同)visual
- of or relating to or resembling the eye; "ocular muscles"; "an ocular organ"; "ocular diseases"; "the optic (or optical) axis of the eye"; "an ocular spot is a pigmented organ or part believed to be sensitive to light" (同)optic, optical, opthalmic
- relating to or using sight; "ocular inspection"; "an optical illusion"; "visual powers"; "visual navigation" (同)optic, optical, visual
- the congenital absence of pigmentation in the eyes and skin and hair
PrepTutorEJDIC
- 《文》目の / 《まれ》視覚の,目で見た / (顕微鏡・望遠鏡などの)接眼レンズ,接眼鏡
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/07/29 11:21:25」(JST)
[Wiki en表示]
| Ocular albinism |
| Classification and external resources |
| ICD-10 |
E70.3 |
| ICD-9 |
270.2 |
| MeSH |
D016117 |
Ocular albinism is a form of albinism which, in contrast to oculocutaneous albinism, presents primarily in the eyes.[1] There are multiple forms of ocular albinism, which are clinically similar.[2]:865
Both known genes are on the X chromosome. When the term "autosomal recessive ocular albinism" ("AROA") is used, it usually refers to mild variants of oculocutaneous albinism rather than ocular albinism, which is X-linked.[3]
Types
| Name |
OMIM |
Gene |
Description |
| Ocular albinism, type 1 (OA1) |
300500 |
GPR143 |
Also known as Nettleship-Falls syndrome,[4][5][6] is the most common variety of ocular albinism. OA1 is usually associated with nystagmus, and difficult to otherwise detect in females; males show more readily observable symptoms. |
| Ocular albinism, type 2 (OA2) |
300600 |
CACNA1F[7] |
Also known as Forsius-Eriksson syndrome[8][9] or "Åland Island eye disease", mostly only affects males, though females are often carriers and can sometimes be symptomatic; it is frequently linked with protanopic dichromacy (a form of color blindness) and with night blindness (nyctalopia). |
| Ocular albinism with sensorineural deafness (OASD) |
300650 |
? (Xp22.3) |
Is, as its name implies, associated with loss of hearing. May be the same as OA1.[10] |
References
- ^ "Ocular albinism - Genetics Home Reference".
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ^ Hutton SM, Spritz RA (March 2008). "A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients". Invest. Ophthalmol. Vis. Sci. 49 (3): 868–72. doi:10.1167/iovs.07-0791. PMID 18326704.
- ^ synd/990 at Who Named It?
- ^ E. Nettleship. On some hereditary diseases of the eye. Transactions of the Ophthalmological Societies of the United Kingdom, 1908-1909, 29: 57-198.
- ^ H. F. Falls. Sex-linked ocular albinism displaying typical fundal changes in the female heterozygote. American Journal of Ophthalmology, Chicago, 1951, 34: 41-50.
- ^ Jalkanen R, Bech-Hansen NT, Tobias R, et al. (June 2007). "A novel CACNA1F gene mutation causes Aland Island eye disease". Invest. Ophthalmol. Vis. Sci. 48 (6): 2498–502. doi:10.1167/iovs.06-1103. PMID 17525176.
- ^ synd/1336 at Who Named It?
- ^ Forsius H, Eriksson AW (April 1964). "[A new eye syndrome with X-chromosomal transmission. a family clan with fundus albinism, fovea hypoplasia, nystagmus, myopia, astigmatism and dyschromatopsia.]". Klin Monatsbl Augenheilkd (in German) 144: 447–57. PMID 14230113.
- ^ Winship IM, Babaya M, Ramesar RS (November 1993). "X-linked ocular albinism and sensorineural deafness: linkage to Xp22.3". Genomics 18 (2): 444–5. doi:10.1006/geno.1993.1495. PMID 8288253.
External links
- GeneReviews/NCBI/NIH/UW entry on Ocular Albinism, X-Linked
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Inborn error of amino acid metabolism (E70–E72, 270)
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| K→acetyl-CoA |
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Lysine/straight chain
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- Glutaric acidemia type 1
- type 2
- Hyperlysinemia
- Pipecolic acidemia
- Saccharopinuria
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Leucine
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- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- 3-Methylcrotonyl-CoA carboxylase deficiency
- 3-Methylglutaconic aciduria 1
- Isovaleric acidemia
- Maple syrup urine disease
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Tryptophan
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| G |
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G→pyruvate→citrate
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Glycine
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- D-Glyceric acidemia
- Glutathione synthetase deficiency
- Sarcosinemia
- Glycine→Creatine: GAMT deficiency
- Glycine encephalopathy
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G→glutamate→
α-ketoglutarate
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Histidine
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- Carnosinemia
- Histidinemia
- Urocanic aciduria
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Proline
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- Hyperprolinemia
- Prolidase deficiency
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Glutamate/glutamine
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G→propionyl-CoA→
succinyl-CoA
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Valine
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- Hypervalinemia
- Isobutyryl-CoA dehydrogenase deficiency
- Maple syrup urine disease
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Isoleucine
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- 2-Methylbutyryl-CoA dehydrogenase deficiency
- Beta-ketothiolase deficiency
- Maple syrup urine disease
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Methionine
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- Cystathioninuria
- Homocystinuria
- Hypermethioninemia
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General BC/OA
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- Methylmalonic acidemia
- Methylmalonyl-CoA mutase deficiency
- Propionic acidemia
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G→fumarate
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Phenylalanine/tyrosine
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Phenylketonuria
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- 6-Pyruvoyltetrahydropterin synthase deficiency
- Tetrahydrobiopterin deficiency
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Tyrosinemia
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- Alkaptonuria/Ochronosis
- Type I tyrosinemia
- Type II tyrosinemia
- Type III tyrosinemia/Hawkinsinuria
|
|
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Tyrosine→Melanin
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- Albinism: Ocular albinism (1)
- Oculocutaneous albinism (Hermansky–Pudlak syndrome)
- Waardenburg syndrome
|
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Tyrosine→Norepinephrine
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- Dopamine beta hydroxylase deficiency
- reverse: Brunner syndrome
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G→oxaloacetate
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Urea cycle/Hyperammonemia
(arginine
|
- Argininemia
- Argininosuccinic aciduria
- Carbamoyl phosphate synthetase I deficiency
- Citrullinemia
- N-Acetylglutamate synthase deficiency
- Ornithine transcarbamylase deficiency/translocase deficiency
|
|
|
|
Transport/
IE of RTT |
- Solute carrier family: Cystinuria
- Hartnup disease
- Iminoglycinuria
- Lysinuric protein intolerance
- Fanconi syndrome: Oculocerebrorenal syndrome
- Cystinosis
|
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| Other |
- 2-Hydroxyglutaric aciduria
- Aminoacylase 1 deficiency
- Ethylmalonic encephalopathy
- Fumarase deficiency
- Trimethylaminuria
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|
|
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mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m
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k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon
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m (A16/C10), i (k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)
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Pigmentation disorders/Dyschromia (L80–L81, 709.0)
|
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Hypo-/
leucism |
| Loss of melanocytes |
| vitiligo: |
- Quadrichrome vitiligo
- Vitiligo ponctué
|
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| syndromic |
- Alezzandrini syndrome
- Vogt–Koyanagi–Harada syndrome
|
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| melanocyte development: |
- Piebaldism
- Waardenburg syndrome
- Tietz syndrome
|
|
|
Loss of melanin/
amelanism |
| albinism: |
- Oculocutaneous albinism
- Ocular albinism
|
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| melanosome transfer: |
- Hermansky–Pudlak syndrome
- Chédiak–Higashi syndrome
- Griscelli syndrome
- Elejalde syndrome
- Griscelli syndrome type 2
- Griscelli syndrome type 3
|
|
| other: |
- Cross syndrome
- ABCD syndrome
- Albinism–deafness syndrome
- Idiopathic guttate hypomelanosis
- Phylloid hypomelanosis
- Progressive macular hypomelanosis
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|
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Leukoderma w/o
hypomelanosis |
- Vasospastic macule
- Woronoff's ring
- Nevus anemicus
|
|
| Ungrouped |
- Nevus depigmentosus
- Postinflammatory hypopigmentation
- Pityriasis alba
- Vagabond's leukomelanoderma
- Yemenite deaf-blind hypopigmentation syndrome
- Wende–Bauckus syndrome
|
|
|
| Hyper- |
Melanin/
Melanosis/
Melanism |
| Reticulated |
- Dermatopathia pigmentosa reticularis
- Pigmentatio reticularis faciei et colli
- Reticulate acropigmentation of Kitamura
- Reticular pigmented anomaly of the flexures
- Naegeli–Franceschetti–Jadassohn syndrome
- Dyskeratosis congenita
- X-linked reticulate pigmentary disorder
- Galli–Galli disease
- Revesz syndrome
|
|
Diffuse/
circumscribed |
- Lentigo/Lentiginosis: Lentigo simplex
- Liver spot
- Centrofacial lentiginosis
- Generalized lentiginosis
- Inherited patterned lentiginosis in black persons
- Ink spot lentigo
- Lentigo maligna
- Mucosal lentigines
- Partial unilateral lentiginosis
- PUVA lentigines
- Melasma
- Erythema dyschromicum perstans
- Lichen planus pigmentosus
- Café au lait spot
- Poikiloderma (Poikiloderma of Civatte
- Poikiloderma vasculare atrophicans)
- Riehl melanosis
|
|
| Linear |
- Incontinentia pigmenti
- Scratch dermatitis
- Shiitake mushroom dermatitis
|
|
| Other/ungrouped |
- Acanthosis nigricans
- Freckle
- Familial progressive hyperpigmentation
- Pallister–Killian syndrome
- Periorbital hyperpigmentation
- Photoleukomelanodermatitis of Kobori
- Postinflammatory hyperpigmentation
- Transient neonatal pustular melanosis
|
|
|
Other
pigments |
| iron: |
- Hemochromatosis
- Iron metallic discoloration
- Pigmented purpuric dermatosis
- Schamberg disease
- Majocchi's disease
- Gougerot–Blum syndrome
- Doucas and Kapetanakis pigmented purpura/Eczematid-like purpura of Doucas and Kapetanakis
- Lichen aureus
- Angioma serpiginosum
- Hemosiderin hyperpigmentation
|
|
| other metals: |
- Argyria
- Chrysiasis
- Arsenic poisoning
- Lead poisoning
- Titanium metallic discoloration
|
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| other: |
- Carotenosis
- Tattoo
- Tar melanosis
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|
|
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| Dyschromatoses |
- Dyschromatosis symmetrica hereditaria
- Dyschromatosis universalis hereditaria
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noco (i/b/d/q/u/r/p/m/k/v/f)/cong/tumr (n/e/d), sysi/epon
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proc, drug (D2/3/4/5/8/11)
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Sex linkage: X-linked disorders
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X-linked recessive
|
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| Immune |
- Chronic granulomatous disease (CYBB)
- Wiskott–Aldrich syndrome
- X-linked severe combined immunodeficiency
- X-linked agammaglobulinemia
- Hyper-IgM syndrome type 1
- IPEX
- X-linked lymphoproliferative disease
- Properdin deficiency
|
|
| Hematologic |
- Haemophilia A
- Haemophilia B
- X-linked sideroblastic anemia
|
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| Endocrine |
- Androgen insensitivity syndrome/Kennedy disease
- KAL1 Kallmann syndrome
- X-linked adrenal hypoplasia congenita
|
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| Metabolic |
- Amino acid: Ornithine transcarbamylase deficiency
- Oculocerebrorenal syndrome
- Dyslipidemia: Adrenoleukodystrophy
- Carbohydrate metabolism: Glucose-6-phosphate dehydrogenase deficiency
- Pyruvate dehydrogenase deficiency
- Danon disease/glycogen storage disease Type IIb
- Lipid storage disorder: Fabry's disease
- Mucopolysaccharidosis: Hunter syndrome
- Purine-pyrimidine metabolism: Lesch–Nyhan syndrome
- Mineral: Menkes disease/Occipital horn syndrome
|
|
| Nervous system |
- X-linked mental retardation: Coffin–Lowry syndrome
- MASA syndrome
- X-linked alpha thalassemia mental retardation syndrome
- Siderius X-linked mental retardation syndrome
- Eye disorders: Color blindness (red and green, but not blue)
- Ocular albinism (1)
- Norrie disease
- Choroideremia
- Other: Charcot–Marie–Tooth disease (CMTX2-3)
- Pelizaeus–Merzbacher disease
- SMAX2
|
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| Skin and related tissue |
- Dyskeratosis congenita
- Hypohidrotic ectodermal dysplasia (EDA)
- X-linked ichthyosis
- X-linked endothelial corneal dystrophy
|
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| Neuromuscular |
- Becker's muscular dystrophy/Duchenne
- Centronuclear myopathy (MTM1)
- Conradi–Hünermann syndrome
- Emery–Dreifuss muscular dystrophy 1
|
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| Urologic |
- Alport syndrome
- Dent's disease
- X-linked nephrogenic diabetes insipidus
|
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| Bone/tooth |
- AMELX Amelogenesis imperfecta
|
|
| No primary system |
- Barth syndrome
- McLeod syndrome
- Smith–Fineman–Myers syndrome
- Simpson–Golabi–Behmel syndrome
- Mohr–Tranebjærg syndrome
- Nasodigitoacoustic syndrome
|
|
|
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X-linked dominant
|
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- X-linked hypophosphatemia
- Focal dermal hypoplasia
- Fragile X syndrome
- Aicardi syndrome
- Incontinentia pigmenti
- Rett syndrome
- CHILD syndrome
- Lujan–Fryns syndrome
- Orofaciodigital syndrome 1
- Craniofrontonasal dysplasia
|
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UpToDate Contents
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English Journal
- Infantile and acquired nystagmus in childhood.
- Ehrt O.SourceDepartment of Ophthalmology, Ludwig-Maximilian University, Mathildenstr. 8, D-80336 Muenchen, Germany. Electronic address: oliver.ehrt@med.uni-muenchen.de.
- European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.Eur J Paediatr Neurol.2012 Nov;16(6):567-72. doi: 10.1016/j.ejpn.2012.02.010. Epub 2012 Mar 28.
- Nystagmus is an involuntary, periodic eye movement caused by a slow drift of fixation which is followed by a fast refixation saccade (jerk nystagmus) or a slow movement back to fixation (pendular nystagmus). In childhood most cases are benign forms of nystagmus: idiopathic infantile, ocular or laten
- PMID 22459007
- Molecular basis of albinism in India: Evaluation of seven potential candidate genes and some new findings.
- Mondal M, Sengupta M, Samanta S, Sil A, Ray K.SourceMolecular & Human Genetics Division, CSIR-Indian Institute of Chemical Biology, Kolkata-700032, India. Electronic address: maitreyee.bonny@gmail.com.
- Gene.Gene.2012 Sep 23. pii: S0378-1119(12)01093-1. doi: 10.1016/j.gene.2012.09.012. [Epub ahead of print]
- Albinism represents a group of genetic disorders with a broad spectrum of hypopigmentary phenotypes dependent on the genetic background of the patients. Oculocutaneous albinism (OCA) patients have little or no pigment in their eyes, skin and hair, whereas ocular albinism (OA) primarily presents the
- PMID 23010199
Japanese Journal
- 一般口演「先天異常」 眼白子症が疑われた姉妹例 (第36回 日本小児眼科学会)
- Case of a Japanese Patient with X-linked Ocular Albinism Associated with the GPR143 Gene Mutation
- OHTSUBO Masafumi,SATO Miho,HIKOYA Akiko,HOSONO Katsuhiro,MINOSHIMA Shinsei,HOTTA Yoshihiro
- Japanese journal of ophthalmology 54(6), 624-626, 2010-11-01
- NAID 10027666565
Related Links
- ^Ocular albinism - Genetics Home Reference". ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0. ^ Hutton SM, Spritz RA (March ...
- ocular 1. pertaining to the eye. 2. eyepiece (of a microscope). ocular albinism hypopigmentation of the iris. ocular carcinoma see carcinoma of skin. extrinsic ocular muscles see extraocular muscles. See also Table 13.1F. ocular ...
Related Pictures
★リンクテーブル★
[★]
- 英
- X-linked recessive disorder
- 関
- 伴性劣性遺伝病、X連鎖遺伝病
X-linked recessive disorders (first aid step p.109)
- Female carriers of X-linked recessive disorders are rarely affected because of random inactivation of X chromosomes in each cell.
[★]
- 英
- ocular albinism, OA
- ラ
- albinismus ocularis
- 同
- 眼白皮症
概念
- 眼の色素低下を伴う遺伝性疾患で、メラニン色素の合成異常が原因。
遺伝
症状
- 虹彩低色素、脈絡膜血管の透見化、眼振、斜視、視交叉線維異常、黄斑低形成。
[★]
[★]
- 関
- bulbar、eyeball、eyepiece、globe、optic、vision、visual
