Results 101 to 110 of about 7,886 (197)

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

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
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Foveal hemorrhage in an eye with foveal hypoplasia associated with albinism

Clinical Ophthalmology, 2014
Naonori Masuda, Taiji Hasegawa, Mariko Yamashita, Nahoko Ogata Department of Ophthalmology, Nara Medical University, Nara, Japan Abstract: Oculocutaneous albinism is a group of congenital disorders caused by alterations of melanin biosynthesis.
Masuda N, Hasegawa T, Yamashita M, Ogata N   +3 more
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Oculocutaneous albinism type 4: Novel compound heterozygous mutations in the SLC45A2 gene in a Chinese case

Molecular Genetics & Genomic Medicine
Background Oculocutaneous albinism type 4 (OCA4) is a rare autosomal recessive disorder characterized by a reduction of pigmentation in skin, hair, and eyes, and OCA4 is mainly seen in the SLC45A2 gene variants.
Danyue He, Xiaonan Liu, Tianyu Yao, Jie Hu, Xiaodong Zheng, Lili Tang, Xing Fan   +6 more
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An investigation into the psychosocial implications of Oculocutaneous Albinism. a case study of Manicaland Albino Association.

, 2013
The study sought to investigate the psychosocial implications of oculocutaneous albinism (OCA) among members of the Manicaland Albino Association in Mutare urban.
Mutasa, Fungai L.
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A Case of Hermansky–Pudlak Syndrome

Journal of Association of Pulmonologist of Tamil Nadu
Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by a triad of oculocutaneous albinism, bleeding diathesis, and lysosomal storage defects. One of the most severe complications of HPS is interstitial lung disease. There
A. Vasudevan, Gayathri Devi Anur Ramakrishnan   +1 more
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Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism

, 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.
Malka, S, Tailor, VK, Theodorou, M, Chan, HW, Moosajee, M, Schiff, ER, Neveu, MM   +6 more
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Photoprotective behaviours amongst persons with albinism in Uyo, Nigeria

JEADV Clinical Practice
Background Strict photoprotection is crucial for persons living with albinism (PWAs), especially in Nigeria where the level of solar ultraviolet radiation is particularly high, which further increases the susceptibility of this population to develop ...
Edesiri E. Ighorodje, Charles N. Nga, Chinyere C. Atansi, Omolara Y. Ukpong, Morolayo O. Fabiyi, Udeme‐Abasi U. Nelson   +5 more
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Eye Movement Changes in a Case of Oculocutaneous albinism

, 1994
Electronystagmography is an important method for differential diagnosis of central dizzness and peripherial dizzness. The study of eye movement is necessary for balance test.
이원상
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A novel TYR variant implicated in oculocutaneous albinism type 1 (OCA1): a study in an indigenous population in Southern Brazil. [PDF]

J Community Genet
Corecco-Moura P, Cardoso-Júnior LM, Artigalás OAP, Vianna FSL, Junges APP, Bonamigo RR, Sales CR, Tejada GL, Gus PI, da Silva Kaingang L, Ribeiro LM, Sales DFC, Kaingang DS, Ornaghi AP, Beltrame MH, Schüler-Faccini L.   +15 more
europepmc   +1 more source

Early Genotype-Driven Diagnosis of Hermansky-Pudlak Syndrome Type 4 in a Child With Oculocutaneous Albinism: An Ophthalmic Case Report. [PDF]

Cureus
Szabo D, Waldispühl-Geigl J, Kamper S, Pilch H, Plecko B, Vollnhofer K, Posch-Pertl L.   +6 more
europepmc   +1 more source