- Ocular albinism
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. There are multiple forms of ocular albinism, which are clinically similar.:865
Name OMIM Gene Description Ocular albinism, type 1 (OA1) 300500 GPR143 Also known as Nettleship-Falls syndrome, 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 Also known as Forsius-Eriksson syndrome 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.
- ^ "Ocular albinism - Genetics Home Reference". http://ghr.nlm.nih.gov/condition=ocularalbinism.
- ^ 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. http://www.iovs.org/cgi/pmidlookup?view=long&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. http://www.iovs.org/cgi/pmidlookup?view=long&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.]" (in German). Klin Monatsbl Augenheilkd 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. http://linkinghub.elsevier.com/retrieve/pii/S0888-7543(83)71495-3.
Inborn error of amino acid metabolism (E70–E72, 270) K→acetyl-CoALysine/straight chainHypertryptophanemia GG→pyruvate→citrateG→glutamate→
IE of RTT
Other Pigmentation disorders/Dyschromia (L80–L81, 709.0) Hypo-/
leucismLoss of melanocytesLoss of melanin/
amelanismCross syndrome · ABCD syndrome · Albinism–deafness syndrome · Idiopathic guttate hypomelanosis · Phylloid hypomelanosis · Progressive macular hypomelanosisLeukoderma w/o
hypomelanosisVasospastic macule · Woronoff's ring · Nevus anemicusUngrouped
Hyper-ReticulatedDermatopathia 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 syndromeDiffuse/
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 lentiginesMelasma · Erythema dyschromicum perstans · Lichen planus pigmentosus · Café au lait spot · Poikiloderma (Poikiloderma of Civatte · Poikiloderma vasculare atrophicans) · Riehl melanosisLinearOther/ungroupedAcanthosis nigricans (Acral acanthotic anomaly) · Freckle · Familial progressive hyperpigmentation · Pallister–Killian syndrome · Periorbital hyperpigmentation · Photoleukomelanodermatitis of Kobori · Postinflammatory hyperpigmentation · Transient neonatal pustular melanosisOther
pigmentsiron: 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 hyperpigmentationother metals: Argyria · Chrysiasis · Arsenic poisoning · Lead poisoning · Titanium metallic discoloration
DyschromatosesDyschromatosis symmetrica hereditaria · Dyschromatosis universalis hereditaria Sex linkage: X-linked disorders X-linked recessive Immune Hematologic Endocrine Metabolicmineral: 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 syndromeCharcot–Marie–Tooth disease (CMTX2-3) · Pelizaeus–Merzbacher disease · SMAX2
Skin and related tissue Neuromuscular Urologic Bone/tooth No primary system X-linked dominant
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ocular albinism — (OA) X linked albinism that affects primarily the eyes, with pigment of the hair and skin being normal or only slightly diluted. It is characterized by reduced visual acuity, retinal hypopigmentation, the presence of macromelanosomes in the eyes … Medical dictionary
Ocular albinism type 1 — Classification and external resources ICD 10 E70.3 OMIM 300500 DiseasesDB … Wikipedia
autosomal recessive ocular albinism — a type of albinism formerly believed to be an autosomal recessive form of ocular albinism but now considered to belong within the phenotypes of oculocutaneous albinism types 1 and 2 … Medical dictionary
Nettleship-Falls ocular albinism — Net·tle·ship Falls ocular albinism (netґəl ship fawlzґ) [Edward Nettleship, English ophthalmologist and dermatologist, 1845â€“1913; Harold Francis Falls, American ophthalmologist and geneticist, 1909â€“2006] see under albinism … Medical dictionary
Nettleship-Falls ocular albinism — Nettleship Falls type ocular albinism ocular a. type 1 … Medical dictionary
X-linked ocular albinism — ocular a. type 1 … Medical dictionary
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albinism — n. the inherited absence of pigmentation in the skin, hair, and eyes, resulting in white hair and pink skin and eyes. The pink colour is produced by blood in underlying blood vessels, which are normally masked by pigment. Ocular signs are reduced … The new mediacal dictionary