Results 31 to 40 of about 3,749 (193)

Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations

BMC Medical Genetics, 2019
Background Oculocutaneous albinism (OCA) is a human autosomal-recessive hypopigmentation disorder with hypopigmentation in the skin, hair, and eyes. OCA1 and OCA2 are caused by mutations of the TYR and OCA2 genes, respectively, which are responsible for ...
Qi Yang, Sheng Yi, Mengting Li, Bobo Xie, Jinsi Luo, Jin Wang, Xiuliang Rong, Qinle Zhang, Zailong Qin, Limei Hang, Shihan Feng, Xin Fan   +11 more
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TYR (tyrosinase (oculocutaneous albinism IA)) [PDF]

, 2012
Review on TYR (tyrosinase (oculocutaneous albinism IA)), with data on DNA, on the protein encoded, and where the gene is ...
Mendoza, EE, Burd, R
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Amelanotic melanoma in a patient with oculocutaneous albinism [PDF]

, 2020
Oculocutaneous albinism is a genetically heterogeneous, autosomal recessive group of disorders characterized by a generalized decreased or absence of melanin pigment in the eyes, hair, and skin.
Aguado Garcia, A, Valtueña, J, Ruiz-Sanchez, D, Garabito Solovera, EL, Martinez Garcia, G, Garayar Cantero, M, Manchado Lopez, P   +6 more
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Successful treatment of aggressive posterior retinopathy of prematurity with diode laser in ocular albinism: A case report

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, Swapnil M Parchand, Raj Vardhan Azad, Deepshikha Agrawal, Priyavrat Bhatia   +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, Vandana Raphael, Caleb Harris   +2 more
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Oculocutaneous Albinism

Journal of Bharatpur Hospital
Oculocutaneous 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, Reeya Shah, Pragya Singh, Sarita Bhattarai, Anju Shrestha   +4 more
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Management of complicated proliferative diabetic retinopathy in a patient with oculocutaneous albinism

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, Ramzi Al Judaibi, Hamdah Alkhaldi, Marco Mura   +3 more
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Ophthalmological Manifestations of Oculocutaneous and Ocular Albinism: Current Perspectives [PDF]

, 2022
Albinism describes a heterogeneous group of genetically determined disorders characterized by disrupted synthesis of melanin and a range of developmental ocular abnormalities.
Padhi, Tapas Ranjan, Ramamurthy, Srishti, Padhy, Srikanta Kumar, CP, Deepika, Padhy, SK, Neveu, MM, Padhi, TR, Ramamurthy, S, Takkar, B, Jalali, S, Deepika, CP, Robson, Anthony G, Robson, AG, Neveu, Magella M, Takkar, Brijesh, Jalali, Subhadra   +15 more
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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 , A Zamanian , B 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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