Results 151 to 160 of about 3,749 (193)
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Journal of the European Academy of Dermatology and Venereology, 2003
ABSTRACTOculocutaneous albinism represents a group of inherited skin disorders characterized by a generalized reduction of cutaneous, ocular and pilar pigmentation from the time of birth. Oculocutaneous albinism types 1 and 2 are the most common, but several other types have been described.
Camila K Jänniger +1 more
exaly +3 more sources
ABSTRACTOculocutaneous albinism represents a group of inherited skin disorders characterized by a generalized reduction of cutaneous, ocular and pilar pigmentation from the time of birth. Oculocutaneous albinism types 1 and 2 are the most common, but several other types have been described.
Camila K Jänniger +1 more
exaly +3 more sources
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
Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism [PDF]
Genes, 2021 Albinism encompasses a group of hereditary disorders characterized by reduced or absent ocular pigment and variable skin and/or hair involvement, with syndromic forms such as Hermansky–Pudlak syndrome and Chédiak–Higashi syndrome.
Hwei Wuen Chan +2 more
exaly +3 more sources
Newborn With Oculocutaneous Albinism
Journal of Pediatric Health Care, 2014MEDICAL AND OBSTETRICAL HISTORY Themother’s medical historywas benign except for excision of a gangrenous lesion from her right hand. Her obstetrical history was not significant for any previous genetic disorders. She was identified as gravida 4, para 1.
Ebony, Beaudoin +2 more
openaire +2 more sources
Oculocutaneous albinism and schizophrenia
Biological Psychiatry, 1986rodents, albinos showed marked behavioral differences from their pigmented counterparts (Henry and Schlesinger 1967). Greiner and Nicolson (1965) proposed a relationship between hypermelanosis and schizophrenia, noting increased melanogenesis in autopsy material from schizophrenics institutionalized in the prephenothiazine era. They hypothesized that a
M H, Pollack, T C, Manschreck
openaire +2 more sources
RETINOBLASTOMA IN OCULOCUTANEOUS ALBINISM
RETINAL Cases & Brief Reports, 2010To report a case of retinoblastoma in a child with oculocutaneous albinism (OCA).A 24-month-old girl with classic features of OCA developed leukocoria in the left eye.The patient was found to have an endophytic retinoblastoma and an exophytic retinoblastoma, with a total retinal detachment and neovascularization of the iris. Enucle-ation was performed,
Fariba, Ghassemi +4 more
openaire +2 more sources
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
openaire +2 more sources