Results 21 to 30 of about 3,749 (193)

An unusual combination of Unilateral Orbital Plexiform Neurofibroma in a patient with oculocutaneous albinism

Indian Journal of Ophthalmology, 2014
A 70-year-old female patient presented with proptosis of right eye for the past 15 days and defective vision in both eyes since birth. She was found to have eccentric painful proptosis of right eye along with features of oculocutaneous albinism ...
J Saravanan, A Rajendraprasad, S Priyadharshni   +2 more
doaj   +2 more sources

Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism. [PDF]

PLoS ONE, 2015
Oculocutaneous albinism (OCA) is an autosomal recessive disorder. The most common type OCA1 and OCA2 are caused by homozygous or compound heterozygous mutations in the tyrosinase gene (TYR) and OCA2 gene, respectively.The purpose of this study was to ...
Yun Wang, Zhi Wang, Mengping Chen, Ning Fan, Jie Yang, Lu Liu, Ying Wang, Xuyang Liu   +7 more
doaj   +2 more sources

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 Arāk
Introduction: 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, Parnian Hekmatpou, Farideh Jalali Mashayekhi, Sahar Bayat, Milad Gholami   +4 more
doaj   +1 more source

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.
Eager KLM, Carter PD, Brancalion L, Willet CE, O'Rourke BA, Tammen I.   +5 more
europepmc   +2 more sources

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

Pigment Cell Melanoma Res
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.
Gillis MF, Ames MR, Lundh L, Gotea V, Elnitski L, Donovan F, NISC Comparative Sequencing Program, Adeyemo A, Rotimi C, Brooks B, Zein W, Gahl W, Oetting WS, Adams DR, Loftus SK.   +14 more
europepmc   +2 more sources

Sentinel Nystagmus: The Key to Identifying Type II Oculocutaneous Albinism (OCA2) in the Pediatric Setting. [PDF]

Case Rep Pediatr
Purpose To present a case of type II oculocutaneous albinism (OCA2) diagnosed in infancy following the finding of nystagmus, and to review the diagnostic process and the management of this disorder. Observation A 4‐month‐old female presented with subtle, roving eyes that were initially attributed to normal development.
Niknam J, Petrosyan A, Agustin V, Shoubaki A.   +3 more
europepmc   +2 more sources

[Oculocutaneous albinism]. [PDF]

Journal francais d'ophtalmologie, 2013
Review on Oculocutaneous Albinism, with data on clinics, and the genes involved.
A, Sauer, C, Speeg-Schatz
  +7 more sources

Skin Cancers Among Albinos at a University Teaching Hospital in Northwestern Tanzania: A Retrospective Review of 64 Cases. [PDF]

, 2012
Skin cancers are a major risk associated with albinism and are thought to be a major cause of death in African albinos. The challenges associated with the care of these patients are numerous and need to be addressed.
Rambau, Peter, Kamugisha, Erasmus, Nestory Masalu, Peter Rambau, Gilyoma, Japhet M, Phillipo L Chalya, Joseph B Mabula, Jaka, H., Giiti, G, Ssentongo Robert, Mchembe, Mabula D, Geofrey Giiti, Jaka, Hyasinta, Mabula D Mchembe, Masalu, N., Giiti, Geofrey, Robert, Ssentongo, Rambau, P., Erasmus Kamugisha, Robert, S., Chalya, Phillipo L, Masalu, Nestory, Gilyoma, J.M, Hyasinta Jaka, Mabula, J.B, Chalya, P.L, Japhet M Gilyoma, Kamugisha, E., Mabula, Joseph B, Mchembe, M.D   +29 more
core   +1 more source

Foveal avascular zone in oculocutaneous albinism [PDF]

, 2021
Optical coherence tomography angiography imaging in two patients with oculocutaneous albinism, one with severe nystagmus, showed persistence of both the superficial and the deep retinal capillary plexus adding another vascular feature to the foveal ...
Mansour, Ahmad Mohammed Farid Mahmoud, Uwaydat, Sami H., Younis, Muhammad H., Mansour, Hana A.   +3 more
core   +1 more source

A single base deletion in the SLC45A2 gene in a Bullmastiff with oculocutaneous albinism. [PDF]

, 2017
Oculocutaneous albinism type 4 (OCA4) in humans and similar phenotypes in many animal species are caused by variants in the SLC45A2 gene, encoding a putative sugar transporter.
V. Jagannathan, M. Caduff, A. Bauer, Caduff, M, Bauer, Anina, Jagannathan, Vidhya, Leeb, Tosso, T. Leeb   +7 more
core   +1 more source