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Encyclopedia of Ophthalmology pp 1–3Cite as

Albinism

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Synonyms

Albinism; Ocular hypopigmentation; Nystagmus

Definition

Albinism is a genetic impairment of melanin production (melanogenesis) characterized by congenital hypopigmentation of the eyes, skin, and hair (oculocutaneous albinism, OCA) or of the eyes alone (ocular albinism, OA). The inheritance pattern of these conditions is different. OCA has an autosomal recessive transmission, whereas OA is X-linked recessive.

Etiology

In albinism there is complete or partial deficiency of melanin, which is responsible for the natural pigmentation of the skin, hair, and eyes. Melanin is normally produced in the melanosome, an intracellular organelle of melanocytes, which are derived from two embryonic tissues: the neural crest and optic cup. Melanocytes originating from the neural crest are present in the skin (epidermal-dermal junction), hair follicles, and eyes (choroid and iris stroma), whereas melanocytes of the retinal pigment epithelium are derived from the neuroectoderm of the optic cup....

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References

  • Izquierdo NJ, Emanuelli A, Izquierdo JC, García M, Cadilla C, Berrocal MH (2007) Foveal thickness and macular volume in patients with oculocutaneous albinism. Retina 27(9):1227–1230

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  • Russell-Eggitt I, Kriss A, Taylor DS (1990) Albinism in childhood: a flash VEP and ERG study. Br J Ophthalmol 74(3):136–140

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  • Wright K, Strube YN (2012) Pediatric ophthalmology and strabismus, 3rd edn. Oxford University Press, New York, pp 1219–1221

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Author information

Authors and Affiliations

  1. Department of Ophthalmology, Tel Aviv Medical Center, 46 Herbert Samuel, Tel Aviv, Israel

    Gad Dotan

Authors
  1. Gad Dotan
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Correspondence to Gad Dotan .

Editor information

Editors and Affiliations

  1. Dept of Ophthal & Optometry,AKH, Medical University of Wien Dept of Ophthal & Optometry,AKH, Wien, Austria

    Ursula Schmidt-Erfurth

  2. Department of Ophthalmology, Goethe University of Frankfurt am Main Department of Ophthalmology, Frankfurt am Main, Germany

    Thomas Kohnen

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© 2015 Springer-Verlag Berlin Heidelberg

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Dotan, G. (2015). Albinism. In: Schmidt-Erfurth, U., Kohnen, T. (eds) Encyclopedia of Ophthalmology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-35951-4_1040-1

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  • DOI: https://doi.org/10.1007/978-3-642-35951-4_1040-1

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Online ISBN: 978-3-642-35951-4

  • eBook Packages: Springer Reference MedicineReference Module Medicine

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