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Ocular albinism (OA) may occur in an autosomal recessive form (AROA) but more commonly it shows X-linked inheritance and is known as X linked ocular albinism (XLOA), though other forms exist. Hypopigmentation of the eye in female patients has been found in patients with AROA and in female carriers for XLOA. Most carrier females have normal vision but may be detected on the basis of iris translucency and a characteristic “mud-splatter” appearance in the peripheral retina. Fundus and iris pigmentation in patients with XLOA reportedly differed from the racial disparities4. Iris translucency is more common in blue irides and with advancing age.
Reference:
1. O'Donnell FE Jr, King RA, Green WR, Witkop CJ Jr. Autosomal recessively inherited ocular albinism. A new form of ocular albinism affecting females as severely as males. Arch Ophthalmol 1978;96(9):1621-5.
2. Teitel AD, Rubin J. Horizontal pendular nystagmus in a patient with ocular albinism. N Engl J Med 2008;31;359(5):e5.
3. FALLS HF. Sex-linked ocular albinism displaying typical fundus changes in the female heterozygote. Am J Ophthalmol 1951;34(52):41-50.
4. Shiono T, Tsunoda M, Chida Y, Nakazawa M, Tamai M. X linked ocular albinism in Japanese patients. Br J Ophthalmol 1995;79(2):139-43.
5. Jay B, Carruthers J, Treplin MCW, Winder AF. Human albinism. Birth defects 1976;12: 415-26.
6. Nom MS. Iris pigment defects in normals. Acta Ophthalmologica 1971;49: 887-94.
Competing interests:
No competing interests
07 October 2019
Jing Liu
Ophthalmologist
no
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University
This article is factually incorrect - Ocular albinism is an X-linked condition ie it only effects males, and so the patient described does not have ocular albinism. OA is characterised by nystagmus, iris transillumination, foveal hypoplasia, small grey optic discs and a blond fundus. The image shown depicts a blond fundus, which is common in the caucasian population, and the disc looks normal. It is hard to determine if the fovea is hypoplastic from the image, but this could be demonstrated by an OCT scan which the article doesn't mention. This may just be a normal fundal image from a lightly-pigmented person!
Re: Ocular albinism
Ocular albinism (OA) may occur in an autosomal recessive form (AROA) but more commonly it shows X-linked inheritance and is known as X linked ocular albinism (XLOA), though other forms exist. Hypopigmentation of the eye in female patients has been found in patients with AROA and in female carriers for XLOA. Most carrier females have normal vision but may be detected on the basis of iris translucency and a characteristic “mud-splatter” appearance in the peripheral retina. Fundus and iris pigmentation in patients with XLOA reportedly differed from the racial disparities4. Iris translucency is more common in blue irides and with advancing age.
Reference:
1. O'Donnell FE Jr, King RA, Green WR, Witkop CJ Jr. Autosomal recessively inherited ocular albinism. A new form of ocular albinism affecting females as severely as males. Arch Ophthalmol 1978;96(9):1621-5.
2. Teitel AD, Rubin J. Horizontal pendular nystagmus in a patient with ocular albinism. N Engl J Med 2008;31;359(5):e5.
3. FALLS HF. Sex-linked ocular albinism displaying typical fundus changes in the female heterozygote. Am J Ophthalmol 1951;34(52):41-50.
4. Shiono T, Tsunoda M, Chida Y, Nakazawa M, Tamai M. X linked ocular albinism in Japanese patients. Br J Ophthalmol 1995;79(2):139-43.
5. Jay B, Carruthers J, Treplin MCW, Winder AF. Human albinism. Birth defects 1976;12: 415-26.
6. Nom MS. Iris pigment defects in normals. Acta Ophthalmologica 1971;49: 887-94.
Competing interests: No competing interests