Bilateral keratoconus with oculocutaneous albinism
[1] Albinism, a genetically determined heterogeneous group of disorders involving hypopigmentation of the skin, eyes, hair (oculocutaneous albinism) or the eyes alone (ocular albinism), occurs primarily due to a deficiency of tyrosinase, which mediates the conversion of tyrosine to melanin. On ophth...
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Veröffentlicht in: | Indian journal of dermatology, venereology, and leprology venereology, and leprology, 2008-07, Vol.74 (4), p.407 |
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Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | [1] Albinism, a genetically determined heterogeneous group of disorders involving hypopigmentation of the skin, eyes, hair (oculocutaneous albinism) or the eyes alone (ocular albinism), occurs primarily due to a deficiency of tyrosinase, which mediates the conversion of tyrosine to melanin. On ophthalmological examination, both eyes were found to have visual acuity (she was able to see the number of fingers held close to her face) with accurate projection of rays, horizontal pendular nystagmus, and a positive Munson's sign (tenting of the lower lid during a downward gaze) [Figure 2]. |
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ISSN: | 0378-6323 0973-3922 1998-3611 |
DOI: | 10.4103/0378-6323.42929 |