Results 21 to 30 of about 2,978 (164)

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
  +6 more sources

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
doaj   +1 more source

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
doaj   +1 more source

Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations. [PDF]

J Dermatol
ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Okamura K, Suzuki T.
europepmc   +2 more sources

Resistant schizophrenia in a patient with oculocutaneous albinism successfully treated with clozapine

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   +1 more source

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising

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, Carlos R. Ferreira, Dong Chen, Wadih M. Zein, Kevin J. O’Brien, Wendy J. Introne, Joshi Stephen, William A. Gahl, Marjan Huizing, May Christine V. Malicdan, David R. Adams, Bernadette R. Gochuico   +11 more
doaj   +1 more source

Genetic testing for ocular albinism and oculocutaneous albinism

The EuroBiotech Journal, 2017
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for ocular albinism and oculocutaneous albinism.
Abeshi Andi, Marinelli Carla, Beccari Tommaso, Dundar Munis, Falsini Benedetto, Bertelli Matteo   +5 more
doaj   +1 more source

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
doaj   +1 more source

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
doaj  

Hermansky–Pudlak Syndrome Type 6 Accompanied with Bowel Vascular Malformation: Clinical Case

Вопросы современной педиатрии, 2021
Background. Hermansky–Pudlak syndrome type 6 is rare hereditary disease caused by pathogenic variants in base sequence, deletions, and insertions in the HPS6 gene encoding the transmembrane protein of the same name.
Natalia V. Zhurkova, Nato D. Vashakmadze, Natella V. Suhanova, Grigorii V. Revunenekov, Olga B. Gordeeva, Maria V. Egorova, Dmitriy S. Ovchinnikov, Vitaliy V. Kadyshev, Rena A. Zhinchenko, Leyla S. Namazova-Baranova   +9 more
doaj   +1 more source