Results 51 to 60 of about 4,797 (115)
Bilateral atypical lamellar holes in a patient with oculocutaneous albinism
, 2020 Albinism can present with a wide range of ophthalmic findings and variable expressivity. With the use of optical coherence tomography, there has been increasing awareness of the variability of macular findings in this condition.
Acon, Dhariana +6 more
core +1 more source
Identification of Pathogenic Mutation c.286dupA in TYR Gene in an Individual with Oculocutaneous Albinism Using Exome Sequencing [PDF]
Majallah-i dānishgāh-i ̒ulūm-i pizishkī-i ArākIntroduction: Oculocutaneous Albinism is a hereditary disease with an autosomal recessive pattern. The incidence of this disease is about 1 in every 17 thousand births. Most of the affected people in Iran are the result of consanguineous marriages. White
Parto Hekmatpou +4 more
doaj
Genetics Selection Evolution, 2017 Background Cases of albinism have been reported in several species including cattle. So far, research has identified many genes that are involved in this eye-catching phenotype.
Sophie Rothammer +7 more
doaj +1 more source
South African Journal of Occupational Therapy, 2020 Background and aim: The World Federation of Occupational Therapists' urges occupational therapists to recognise when people are being denied the right to participate in occupations and advocate for change. People with oculocutaneous albinism face stigma
Lara Mather +7 more
doaj +1 more source
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source
Beyond Rare: Documenting Albino‐Like Phenotypes as a Recurring Trait in the Juan Fernandez Fur Seal
Marine Mammal Science, Volume 42, Issue 4, October 2026.
Constanza Toro‐Valdivieso +5 more
wiley +1 more source
Congenital aniridia: European COST action ANIRIDIA‐NET guidelines for diagnosis, management and care
Acta Ophthalmologica, Volume 104, Issue 3, Page 267-279, May 2026.Abstract Congenital aniridia is a rare ocular disorder affecting the majority of eye structures and can be associated with systemic manifestations. The main visible phenotypic characteristic is the partial or complete absence of the iris; however, foveal hypoplasia is a more frequent and reliable clinical sign. Other ocular comorbidities are associated
Davide Romano +26 more
wiley +1 more source
Bleeding Disorders in Children With Genetic Diseases: A Narrative Review
Acta Paediatrica, Volume 115, Issue 5, Page 1015-1024, May 2026.ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol +6 more
wiley +1 more source
Studies on serum level of some trace elements in oculocutaneous albinism subjects in Owerri metropolis [PDF]
, 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
Haplotype‐Based Analysis of OCA2 Variants in Oculocutaneous Albinism
Pigment Cell &Melanoma Research, Volume 39, Issue 3, May 2026.This study defines multi‐allele haplotypes, comprised of rare disease variants combined with common eQTL, sQTL and GWAS variants, for oculocutaneous albinism type 2 (OCA2). These haplotypes have implications for variant pathogenicity assessments and phenotypic variability.
Meredith F. Gillis +14 more
wiley +1 more source