Ocular albinism

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.[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.[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]

External links

References

  1. ^ "Ocular albinism - Genetics Home Reference". http://ghr.nlm.nih.gov/condition=ocularalbinism. 
  2. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  3. ^ 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. 
  4. ^ synd/990 at Who Named It?
  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. ^ 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. 
  8. ^ synd/1336 at Who Named It?
  9. ^ 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. 
  10. ^ 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. 
v · d · eInborn error of amino acid metabolism (E70–E72, 270)
K→acetyl-CoA
Lysine/straight chain
Hypertryptophanemia
G
G→pyruvate→citrate
G→glutamate→
α-ketoglutarate
Glutamate/glutamine
General BC/OA
G→fumarate
Transport/
IE of RTT
Other

M: MET

mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m

k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon

m(A16/C10),i(k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)
v · d · ePigmentation disorders/Dyschromia (L80–L81, 709.0)
Hypo-/
leucism
Loss of melanocytes

vitiligo: Quadrichrome vitiligo · Vitiligo ponctué · syndromic (Alezzandrini syndrome · Vogt–Koyanagi–Harada syndrome)

melanocyte development: Piebaldism · Waardenburg syndrome · Tietz syndrome
Loss of melanin/
amelanism

albinism: Oculocutaneous albinism · Ocular albinism

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
Leukoderma w/o
hypomelanosis
Vasospastic macule · Woronoff's ring · Nevus anemicus
Ungrouped
ungrouped: Nevus depigmentosus · Postinflammatory hypopigmentation · Pityriasis alba · Vagabond's leukomelanoderma · Yemenite deaf-blind hypopigmentation syndrome · Wende–Bauckus syndrome
Hyper-
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
Other/ungrouped
Acanthosis nigricans (Acral acanthotic anomaly) · 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
Dyschromatoses
Dyschromatosis symmetrica hereditaria · Dyschromatosis universalis hereditaria

M: INT, SF, LCT

anat/phys/devp

noco(i/b/d/q/u/r/p/m/k/v/f)/cong/tumr(n/e/d), sysi/epon

proc, drug (D2/3/4/5/8/11)
v · d · eSex linkage: X-linked disorders
X-linked recessive
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
Endocrine
Metabolic
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
Skin and related tissue

Dyskeratosis congenita · Hypohidrotic ectodermal dysplasia (EDA) ·

X-linked ichthyosis · X-linked endothelial corneal dystrophy
Neuromuscular
Urologic
Bone/tooth
No primary system
X-linked dominant
v · d · eGenetic disorder, membrane: Channelopathy
Calcium channel
Ligand gated
Sodium channel
Voltage-gated
SCNN1B/SCNN1G (Liddle's syndrome) · SCNN1A/SCNN1B/SCNN1G ( Pseudohypoaldosteronism 1AR)
Potassium channel
KCNJ1 (Bartter syndrome 2) · KCNJ2 (Andersen-Tawil syndrome, Long QT syndrome 7, Short QT syndrome) · KCNJ11 (TNDM3) · KCNJ18 (Thyrotoxic periodic paralysis 2)
Chloride channel
TRP channel
Connexin
GJA1 (Oculodentodigital dysplasia, Hallermann–Streiff syndrome, Hypoplastic left heart syndrome) · GJB1 (Charcot–Marie–Tooth disease X1) · GJB2 (Keratitis–ichthyosis–deafness syndrome, Ichthyosis hystrix, Bart–Pumphrey syndrome, Vohwinkel syndrome) · GJB3/GJB4 (Erythrokeratodermia variabilis, Progressive symmetric erythrokeratodermia) · GJB6 (Clouston's hidrotic ectodermal dysplasia)
Porin
see also ion channels
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk

Wikimedia Foundation. 2010.

Игры ⚽ Поможем решить контрольную работу

Look at other dictionaries:

  • 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, 1845–1913; Harold Francis Falls, American ophthalmologist and geneticist, 1909–2006] 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

  • Albinism — Albino redirects here. For other uses, see Albino (disambiguation). Albinism Classification and external resources A black child with albinism ICD 10 …   Wikipedia

  • Albinism — Partial or total lack of the pigment melanin in the skin, hair and iris. The word albino is Portuguese and comes from the Latin albus for white. * * * A group of inherited (usually autosomal recessive) disorders with deficiency or absence of… …   Medical dictionary

  • Ocular straylight — is the unwanted effect of light spreading as seen by human eyes, and caused by the eye itself, not by external factors. It is most easily visualized as the radiation seen spreading from a bright light source against a dark background. The typical …   Wikipedia

  • 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

Share the article and excerpts

Direct link
… Do a right-click on the link above
and select “Copy Link”