| 词条 | Ocular albinism | ||||||||||||||||
| 释义 |
| name = Ocular albinism | synonyms = | image = | caption = | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }} 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]{{rp|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
References1. ^{{cite web |url=http://ghr.nlm.nih.gov/condition=ocularalbinism |title=Ocular albinism - Genetics Home Reference |format= |work= |accessdate=}} 2. ^James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. {{ISBN|0-7216-2921-0}}. 3. ^{{cite journal |vauthors=Hutton SM, Spritz RA |title=A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients |journal=Invest. Ophthalmol. Vis. Sci. |volume=49 |issue=3 |pages=868–72 |date=March 2008 |pmid=18326704 |doi=10.1167/iovs.07-0791 |url=http://www.iovs.org/cgi/pmidlookup?view=long&pmid=18326704}} 4. ^{{WhoNamedIt|synd|990}} 5. ^E. Nettleship. On some hereditary diseases of the eye. Transactions of the Ophthalmological Societies of the United Kingdom, 1908-1909, 29: 57-198. 6. ^H. F. Falls. Sex-linked ocular albinism displaying typical fundal changes in the female heterozygote. American Journal of Ophthalmology, Chicago, 1951, 34: 41-50. 7. ^{{cite journal |vauthors=Jalkanen R, Bech-Hansen NT, Tobias R, etal |title=A novel CACNA1F gene mutation causes Aland Island eye disease |journal=Invest. Ophthalmol. Vis. Sci. |volume=48 |issue=6 |pages=2498–502 |date=June 2007 |pmid=17525176 |doi=10.1167/iovs.06-1103 |url=http://www.iovs.org/cgi/pmidlookup?view=long&pmid=17525176}} 8. ^{{WhoNamedIt|synd|1336}} 9. ^{{cite journal |vauthors=Forsius H, Eriksson AW |title=[A new eye syndrome with X-chromosomal transmission. a family clan with fundus albinism, fovea hypoplasia, nystagmus, myopia, astigmatism and dyschromatopsia.] |language=German |journal=Klin Monatsbl Augenheilkd |volume=144 |issue= |pages=447–57 |date=April 1964 |pmid=14230113 |doi= |url=}} 10. ^{{cite journal |vauthors=Winship IM, Babaya M, Ramesar RS |title=X-linked ocular albinism and sensorineural deafness: linkage to Xp22.3 |journal=Genomics |volume=18 |issue=2 |pages=444–5 |date=November 1993 |pmid=8288253 |doi=10.1006/geno.1993.1495 |url=http://linkinghub.elsevier.com/retrieve/pii/S0888-7543(83)71495-3}} External links{{Medical resources| DiseasesDB = | ICD10 = {{ICD10|E|70|3|e|70}} | ICD9 = {{ICD9|270.2}} | ICDO = | OMIM = | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = D016117 }}
3 : Albinism|Amino acid metabolism disorders|X-linked recessive disorders |
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