Results 71 to 80 of about 3,749 (193)
Case Reports in Genetics, Volume 2026, Issue 1, 2026.Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by pathogenic variants in the fibrillin‐1 (FBN1) gene on Chromosome 15q21.1. A 3‐year‐old female presented to the clinic with MFS and a family history of an affected maternal uncle and maternal great‐aunt.
Breanna Beers +3 more
wiley +1 more source
Teenagers with oculocutaneous Albinism in Polokwane : their self-esteem and perceptions of societal attitudes [PDF]
, 2007 Thesis (M.A. (Clinical Psychology)) -- University of Limpopo, 2007This study explored the self-esteem of teenagers with oculocutaneous albinism and how they perceive societal attitudes towards them.
Selepe, Dorothy Mabore
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Oculocutaneous albinism: an African perspective
British and Irish Orthoptic Journal, 2014 Aim: To describe the genetics behind oculocutaneous albinism (OCA), and explore OCA in an African context in terms of the effects on the health and education of individuals with OCA.
Geraldine R. Mcbride
doaj +1 more source
Case Reports in Ophthalmological Medicine, Volume 2026, Issue 1, 2026.Background and Aims We present a case of mixed mechanism glaucoma following NewColorIris implant that was successfully treated using an off‐label use of Xen Gel Stent. Methods A retrospective review of the patient′s medical records was conducted following the acquisition of informed consent.
Roshun Sangani +3 more
wiley +1 more source
Retinopathy of prematurity in oculocutaneous albinism
Indian Journal of Ophthalmology, 2019 We report a case of retinopathy of prematurity (ROP) in an infant with oculocutaneous albinism (OCA), with the challenges faced in diagnosis, and subsequent management. Poor fundus contrast and blanching of retinal vessels on indentation caused significant visualization problems in detection of ridge and extraretinal vessel proliferation.
Parijat Chandra +4 more
openaire +3 more sources
, 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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Distribution of oculocutaneous albinism in Zimbabwe.
, 1996 A survey of 1.3 million schoolchildren in Zimbabwe identified a total of 278 pupils with oculocutaneous albinism (OCA), giving a prevalence of 1 in 4728. Pupils with OCA were identified in every province of the country, but the distribution was not even.
Lund, Patricia M.
core +1 more source
, 2020 Studies on serum level of some trace elements in oculocutaneous albinism subject in Owerri metropolis was carried out using standard methods. Sixty (60) volunteer subjects made of 30 male and 30 female were used for the study.
Kaosisochukwu, Catherine +7 more
core +1 more source
Human Mutation, Volume 2026, Issue 1, 2026.Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by persistent deficits in social communication and interaction, along with restricted, repetitive patterns of behavior, interests, or activities. Single‐nucleotide variants (SNVs) and structural variants (SVs), including copy‐number variants (CNVs), have been reported as ...
Mehmet Burak Mutlu +16 more
wiley +1 more source
Type I Oculocutaneous Albinism Associated with a Full-Length Deletion of the Tyrosinase Gene
, 1996 Type I oculocutaneous albinism is an autosomal recessive disorder in which the biosynthesis of melanin is reduced or absent in skin, hair, and eyes because of deficient activity of tyrosinase (EC 1.14.18.1).
Holmes, Stuart A. +5 more
core +1 more source