Results 31 to 40 of about 7,863 (174)
Indian Journal of Ophthalmology, 2019 Oculocutaneous albinism is characterized by partial or complete absence of melanin in retinal pigment epithelium (RPE) and uveal melanocytes. Absence of typical fundal background from RPE and choroid makes it difficult to diagnose retinal disorders in ...
Anil B Gangwe +4 more
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Journal of Bharatpur HospitalOculocutaneous albinism (OCA) is a group of inherited autosomal recessive disorders characterized by reduced or absent melanin production, affecting pigmentation in the skin, hair, and eyes. This leads to significant visual impairments, including foveal hypoplasia (underdevelopment of the central retina), nystagmus (involuntary eye movements), and ...
Shristi Phauja +4 more
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Eccrine porocarcinoma with squamous differentiation in a patient with oculocutaneous albinism
Indian Dermatology Online Journal, 2020 Eccrine porocarcinoma is a rare malignant skin appendage tumor of sweat gland origin. Eccrine porocarcinoma arising in a patient of oculocutaneous albinism is extremely rare and only two cases have been reported in English literature to the best of our ...
Biswajit Dey +2 more
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American Journal of Ophthalmology Case Reports, 2022 Purpose: To describe the management and outcome of a patient with oculocutaneous albinism and complicated proliferative diabetic retinopathy, as well as to discuss treatment challenges and strategies in this patient population. Observation: A 52-year-old
Abdullah Al Marshood +3 more
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Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2017 Review on Oculocutaneous ...
Ray, Kunal +2 more
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European Psychiatry, 2022 Introduction Several studies have shown an association between oculocutaneous albinism and several neuropsychiatric entities, including schizophrenia.
A. Jelti +3 more
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Orphanet Journal of Rare Diseases, 2019 Background Determining the etiology of oculocutaneous albinism is important for proper clinical management and to determine prognosis. The purpose of this study was to genotype and phenotype eight adopted Chinese children who presented with ...
Bradley Power +11 more
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The Coexistence of Oculocutaneous Albinism with Schizophrenia [PDF]
Cureus, 2020 Oculocutaneous albinism (OCA) is an extremely rare skin disorder which occurs in 0.005% of the world population, whereas schizophrenia is a rare mental illness which affects 1% of the world population. Researchers have spent much time searching for the causes of schizophrenia, as they are still largely unknown.
Tsai, Alicia L, Agustines, Davin
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Genetic Analysis of Oculocutaneous Albinism Type1A (OCA1A) in an Iranian Family [PDF]
Iranian Journal of Public Health, 2010 Background: Oculocutaneous albinism type1 (OCA1) is characterized by the absence of melanin pigmentation. The mutation on TYR gene makes OCA1 as an autosomal recessive genetic disorder.
H Pour-Jafari +2 more
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Oculocutaneous albinism and autism: a case report and review of literature [PDF]
Düşünen Adam Psikiyatri ve Nörolojik Bilimler Dergisi, 2013 Autistic disorder is a highly heritable disorder characterized by impaired communication, social interaction, and repetitive behaviors. Several inherited medical and psychological disorders have been reported in association with childhood autism and many
selma tural hesapcioglu
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