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PMEL is mutated in oculocutaneous albinism
Human Genetics, 2022Oculocutaneous albinism (OCA) is a group of Mendelian disorders characterized by hypopigmentation of skin, hair and pigmented ocular structures. While much of the genetic heterogeneity of OCA has been resolved, many patients still lack a molecular diagnosis following exome sequencing.
Lama AlAbdi +4 more
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Developmental glaucoma in oculocutaneous albinism
Ophthalmic Paediatrics and Genetics, 1988A case of oculocutaneous albinism is described in which bilateral Axenfeld's anomaly co-exists. Progressive elevation of intraocular pressure required treatment and this complication has not been reported. Different hypotheses regarding the co-existence of these conditions are reviewed.
D F, Larkin, H N, O'Donoghue
exaly +3 more sources
Annales de pediatrie, 1992
Oculocutaneous albinism (OCA) is an inherited condition characterized by hypopigmentation of the skin, hair, and eyes. Ocular involvement is often severe with photophobia, decreased visual acuity due to foveal hypoplasia, nystagmus, and strabism secondary to defective routing of optic axons in the chiasma.
J P, Lacour, J P, Ortonne
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Oculocutaneous albinism (OCA) is an inherited condition characterized by hypopigmentation of the skin, hair, and eyes. Ocular involvement is often severe with photophobia, decreased visual acuity due to foveal hypoplasia, nystagmus, and strabism secondary to defective routing of optic axons in the chiasma.
J P, Lacour, J P, Ortonne
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Molecular genetics of oculocutaneous albinism
Human Molecular Genetics, 1994Oculocutaneous albinism (OCA) is a group of autosomal recessive disorders characterized by deficient synthesis of melanin pigment. Type I (tyrosinase-deficient) OCA results from deficient enzymatic activity of tyrosinase, which catalyzes at least three steps in the melanin biosynthetic pathway.
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Oculocutaneous albinism spectrum
American Journal of Medical Genetics Part A, 2009Pei-Wen, Chiang +2 more
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Oculocutaneous Albinism in Mozambique
Ophthalmology Retina, 2018Mun Faria, Ana Fonseca
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Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B
American Journal of Human Genetics, 2023Stacie K Loftus +2 more
exaly
[Genetics of oculocutaneous albinism].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft, 2007Albinism comprises a heterogeneous group of nonprogressive genetic disorders characterized by the absence of pigmentation in the skin, hair, and/or eyes. Hypopigmentation or complete lack of pigmentation is caused by an enzyme deficiency involving the production, metabolism, or distribution of melanin.
C, Zühlke +2 more
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