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

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