Ocular Albinism

Classification	ICD-10: E70.3; ICD-10-CM: E70.31; ICD-9-CM: 270.2; MeSH: D016117;
External resources	Orphanet: 284804;

Ocular albinism
Ocular albinism
	Iris images of individual with OA1

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 rather than ocular albinism, which is X-linked.^[3]

Types[edit | edit source]

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 eye disease", mostly 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]

References[edit | edit source]

↑ "Ocular albinism - Genetics Home Reference". Archived from the original on 2010-05-01. Retrieved 2022-01-02.
↑ 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. Archived from the original on 2019-12-15. Retrieved 2008-06-02.
↑ 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. Archived from the original on 2019-12-15. Retrieved 2008-06-02.
↑ 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.]". Klin Monatsbl Augenheilkd (in Deutsch). 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.

External links[edit | edit source]

GeneReviews/NCBI/NIH/UW entry on Ocular Albinism, X-Linked Archived 2010-03-05 at the Wayback Machine

[urlOcular_albinism_-_Genetics_Home_Reference-1] "Ocular albinism - Genetics Home Reference". Archived from the original on 2010-05-01. Retrieved 2022-01-02.

[Andrews-2] James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.

[pmid18326704-3] 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. Archived from the original on 2019-12-15. Retrieved 2008-06-02.

[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.

[pmid17525176-7] 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. Archived from the original on 2019-12-15. Retrieved 2008-06-02.

[8] synd/1336 at Who Named It?

[pmid14230113-9] 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.]". Klin Monatsbl Augenheilkd (in Deutsch). 144: 447–57. PMID 14230113.

[pmid8288253-10] 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.

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Classification	ICD-10: E70.3 ICD-10-CM: E70.31 ICD-9-CM: 270.2 MeSH: D016117
External resources	Orphanet: 284804