Results 161 to 170 of about 7,886 (197)

PMEL is mutated in oculocutaneous albinism

Human Genetics, 2022
Oculocutaneous 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, Muneera Alshammari, Rana Helaby, Arif O. Khan, Fowzan S. Alkuraya   +4 more
openaire   +2 more sources

Developmental glaucoma in oculocutaneous albinism

Ophthalmic Paediatrics and Genetics, 1988
A 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

Oculocutaneous Albinism

JAMA Ophthalmology, 2015
Roger A, Goldberg, David R, Lally, Jeffrey S, Heier   +2 more
  +5 more sources

[Oculocutaneous albinism].

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
openaire   +1 more source

Molecular genetics of oculocutaneous albinism

Human Molecular Genetics, 1994
Oculocutaneous 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.
openaire   +3 more sources

Oculocutaneous albinism

Neuropediatrics, 2011
KA Koch, CB Bussmann
openaire   +2 more sources

Oculocutaneous albinism spectrum

American Journal of Medical Genetics Part A, 2009
Pei-Wen, Chiang, Elaine, Spector, Anne Chun-Hui, Tsai   +2 more
openaire   +2 more sources

Oculocutaneous Albinism in Mozambique

Ophthalmology Retina, 2018
Mun Faria, Ana Fonseca
openaire   +2 more sources

Determining a Worldwide Prevalence of Oculocutaneous Albinism: A Systematic Review

Investigative Ophthalmology and Visual Science, 2023
Robyn Kerr, Jennifer G R Kromberg
exaly  

[Genetics of oculocutaneous albinism].

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft, 2007
Albinism 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, A, Stell, B, Käsmann-Kellner   +2 more
openaire   +1 more source