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Autosomal recessive ocular albinism

MedGen UID:
541337
•Concept ID:
C0268503
•
Congenital Abnormality
Synonyms: AROA; AROA - Autosomal recessive ocular albinism; autosomal recessive ocular albinism; autosomal recessive ocular albinism (disease); ocular albinism (disease), autosomal recessive
SNOMED CT: AROA - Autosomal recessive ocular albinism (78921008); Autosomal recessive ocular albinism (78921008)
 
Monarch Initiative: MONDO:0040653

Definition

Autosomal recessive form of ocular albinism (disease). [from MONDO]

Professional guidelines

PubMed

Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).
Norman CS, O'Gorman L, Gibson J, Pengelly RJ, Baralle D, Ratnayaka JA, Griffiths H, Rose-Zerilli M, Ranger M, Bunyan D, Lee H, Page R, Newall T, Shawkat F, Mattocks C, Ward D, Ennis S, Self JE
Sci Rep 2017 Jun 30;7(1):4415. doi: 10.1038/s41598-017-04401-5. PMID: 28667292Free PMC Article

Recent clinical studies

Etiology

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
Gene 2012 Dec 15;511(2):470-4. Epub 2012 Sep 23 doi: 10.1016/j.gene.2012.09.012. PMID: 23010199
Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.
Grønskov K, Ek J, Sand A, Scheller R, Bygum A, Brixen K, Brondum-Nielsen K, Rosenberg T
Invest Ophthalmol Vis Sci 2009 Mar;50(3):1058-64. Epub 2008 Dec 5 doi: 10.1167/iovs.08-2639. PMID: 19060277
A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.
Hutton SM, Spritz RA
Invest Ophthalmol Vis Sci 2008 Mar;49(3):868-72. doi: 10.1167/iovs.07-0791. PMID: 18326704

Diagnosis

Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations.
Khordadpoor-Deilamani F, Akbari MT, Karimipoor M, Javadi GR
J Hum Genet 2016 May;61(5):373-9. Epub 2016 Jan 28 doi: 10.1038/jhg.2015.167. PMID: 26818737
Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.
Grønskov K, Ek J, Sand A, Scheller R, Bygum A, Brixen K, Brondum-Nielsen K, Rosenberg T
Invest Ophthalmol Vis Sci 2009 Mar;50(3):1058-64. Epub 2008 Dec 5 doi: 10.1167/iovs.08-2639. PMID: 19060277
A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.
Hutton SM, Spritz RA
Invest Ophthalmol Vis Sci 2008 Mar;49(3):868-72. doi: 10.1167/iovs.07-0791. PMID: 18326704
Ocular manifestations of metabolic disorders.
Iwata F, Kaiser-Kupfer MI
Curr Opin Ophthalmol 1994 Dec;5(6):79-83. doi: 10.1097/00055735-199412000-00013. PMID: 10150832
Albinism. Recent advances.
Jay B, Carroll W
Trans Ophthalmol Soc U K (1962) 1980;100(4):467-71. PMID: 6797109

Prognosis

The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism.
Oetting WS, Pietsch J, Brott MJ, Savage S, Fryer JP, Summers CG, King RA
Am J Med Genet A 2009 Mar;149A(3):466-9. doi: 10.1002/ajmg.a.32654. PMID: 19208379

Clinical prediction guides

The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism.
Oetting WS, Pietsch J, Brott MJ, Savage S, Fryer JP, Summers CG, King RA
Am J Med Genet A 2009 Mar;149A(3):466-9. doi: 10.1002/ajmg.a.32654. PMID: 19208379
Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.
Grønskov K, Ek J, Sand A, Scheller R, Bygum A, Brixen K, Brondum-Nielsen K, Rosenberg T
Invest Ophthalmol Vis Sci 2009 Mar;50(3):1058-64. Epub 2008 Dec 5 doi: 10.1167/iovs.08-2639. PMID: 19060277

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