Results 1 to 10 of about 6,439 (248)

Management of complicated proliferative diabetic retinopathy in a patient with oculocutaneous albinism [PDF]

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
doaj   +3 more sources

Genotypic and phenotypic analysis of an oculocutaneous albinism patient: a case report and review of the literature [PDF]

Journal of Medical Case Reports
Background Oculocutaneous albinism is a rare autosomal recessive disorder caused by congenital melanin deficiency, resulting in hypopigmentation of the eyes, hair, and skin.
Qian Ma, Weiwei Wang
doaj   +4 more sources

Oculocutaneous albinism [PDF]

Orphanet Journal of Rare Diseases, 2007
Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes.
Brondum-Nielsen Karen, Ek Jakob, Grønskov Karen   +2 more
doaj   +3 more sources

Quality of life in patients with oculocutaneous albinism [PDF]

Anais Brasileiros de Dermatologia, 2015
BACKGROUND:The social reality of the albino needs to be more studied in Brazil, as myths and social segregation regarding this illness are likely to be found in the country, with psychosocial and medical implications.OBJECTIVE:As this subject has not ...
Marcus Maia, Beatrice Mussio Fornazier Volpini, Gabriela Alves dos Santos, Maria Josefa Penon Rujula   +3 more
doaj   +2 more sources

Unsuccessful transscleral cyclophotocoagulation in oculocutaneous albinism [PDF]

American Journal of Ophthalmology Case Reports
Purpose: To report a case of unsuccessful transscleral cyclophotocoagulation in a patient with OCA1A tyrosinase-negative oculocutaneous albinism.
Aaron D. Dotson, John H. Fingert, Erin A. Boese   +2 more
doaj   +2 more sources

Resistant schizophrenia in a patient with oculocutaneous albinism successfully treated with clozapine [PDF]

European Psychiatry, 2022
Introduction Several studies have shown an association between oculocutaneous albinism and several neuropsychiatric entities, including schizophrenia.
A. Jelti, F. N’Sabi, F. Kennab, M. Barrimi   +3 more
doaj   +2 more sources

Common Variants in the TYR Gene with Unclear Pathogenicity as the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients [PDF]

Biomedicines
Background: oculocutaneous albinism (OCA) is a hereditary impairment of skin, hair, and eye pigmentation. The most common form of albinism is autosomal recessive albinism, caused by mutations in the TYR gene, accounting for approximately 40–50% of all ...
Olga Shchagina, Anna Stepanova, Polina Mishakova, Vitaliy Kadyshev, Nina Demina, Ludmila Bessonova, Sofya Ionova, Daria Guseva, Andrey Marakhonov, Rena Zinchenko, Sergey Kutsev, Aleksander Polyakov   +11 more
doaj   +2 more sources

Case Report: Genetic analysis of oculocutaneous albinism type 2 caused by a new mutation in the OCA2 [PDF]

Frontiers in Pediatrics
Oculocutaneous albinism (OCA) is a condition inherited in an autosomal recessive manner, leading to reduced pigmentation in the skin, hair, and eyes. Oculocutaneous albinism type 2 (OCA2) is one of the most common forms of OCA, caused by OCA2 mutations ...
Lei Luo, Min Ma, Yanzhang Yang, Hui Zhao
doaj   +2 more sources

Oculocutaneous Albinism [PDF]

, 2020
National Cancer Institute
  +5 more sources

Clinico-pathologic profile of skin cancers in oculocutaneous albinism at Universitas Academic Hospital. [PDF]

Health SA
Makuru MH, Maruma F, Ngwenya E, Mponda K.   +3 more
europepmc   +2 more sources