Results 1 to 10 of about 3,090 (126)

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.
John Fingert, Erin Boese
exaly   +4 more sources

A New TYR Splice Donor Variant Causing Oculocutaneous Albinism Type I in Angus Cattle [PDF]

Anim Genet
Animal Genetics, Volume 57, Issue 3, June 2026.
Katie L. M. Eager, Phillip D. Carter, Lillian Brancalion, Cali E. Willet, Brendon A. O'Rourke, Imke Tammen   +5 more
wiley   +2 more sources

Haplotype‐Based Analysis of OCA2 Variants in Oculocutaneous Albinism [PDF]

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, Madeleine R. Ames, Linnea Lundh, Valer Gotea, Laura Elnitski, Frank Donovan, NISC Comparative Sequencing Program, Adebowale Adeyemo, Charles Rotimi, Brian Brooks, Wadih Zein, William Gahl, William S. Oetting, David R. Adams, Stacie K. Loftus   +14 more
wiley   +2 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   +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 type 4: Novel compound heterozygous mutations in the SLC45A2 gene in a Chinese case [PDF]

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
doaj   +2 more sources

Determining a Worldwide Prevalence of Oculocutaneous Albinism: A Systematic Review [PDF]

Invest Ophthalmol Vis Sci, 2023
Kromberg JGR, Flynn KA, Kerr RA.
exaly   +2 more sources

Ophthalmologic Phenotype–Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center [PDF]

Invest Ophthalmol Vis Sci, 2023
Seguy PH, Korobelnik JF, Delyfer MN, Michaud V, Arveiler B, Lasseaux E, Gattoussi S, Rougier MB, Trin K, Morice-Picard F, Ghomashchi N, Coste V.   +11 more
exaly   +2 more sources

Foveal hypoplasia in oculocutaneous albinism: An optical coherence tomography study

African Vision and Eye Health, 2023
Background: Albinism is an inherited condition characterised by a lack of pigmentation. Foveal hypoplasia, which occurs because of disruptions in normal foveal development, is commonly observed in albinism.
Ethan Pillay, Nishanee Rampersad
doaj   +1 more source