Results 91 to 100 of about 7,863 (174)

Oculocutaneous albinism in a Puerto Rican patient. [PDF]

JAAD Case Rep, 2023
Bindernagel R, Chavda K.
europepmc   +1 more source

Spitz nevus in a patient with oculocutaneous albinism: dermoscopic and histopathologic correlation. [PDF]

An Bras Dermatol
Maya JAT, Ishioka P, Oliveira LRG, Marçon CR.   +3 more
europepmc   +1 more source

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

Pigment Cell Melanoma Res
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   +1 more source

Oculo-visual disorders in albinism

, 2015
Oculo-visual disorders in Albinism Safal Khanal OD, Amrit Pokharel BOptom, Himal Kandel Msc.PHEC Background and aim: Albinism poses a significant threat to visual functions and causes remarkable ocular morbidity often resulting in visual disabilities ...
Kandel, H, Pokharel, A, Khanal, S
core  

The relationship between foveal anatomy and retinal function in oculocutaneous albinism. [PDF]

Doc Ophthalmol
Balakrishnan U, Wynne N, Pfeifer W, Woertz E, Carroll J, Drack AV.   +5 more
europepmc   +1 more source

Oculocutaneous Albinism: An Overview

Journal of the Foundations of Ophthalmology
Albinism encompasses a group of heterogenous genetic conditions affecting the melanin synthesis pathway leading to a reduction or absence in melanin production. In ophthalmology, albinism can be broadly categorised into two groups: oculocutaneous albinism (OCA) and ocular albinism (OA).
openaire   +1 more source

Ocular Phenotypes and Novel <i>SLC45A2</i> Variants in Patients with Oculocutaneous Albinism Type 4. [PDF]

Genes (Basel)
Chen C, Wang B, Zheng Y, Liu J, Yu X.
europepmc   +1 more source

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

Oculocutaneous albinism [PDF]

, 2020
openaire   +3 more sources

Clinical Manifestations and Genetic Spectrum of Oculocutaneous Albinism Type 2 in Chinese Patients. [PDF]

Genes (Basel)
Chen C, Li J, Wang B, Liu J, Yu X.
europepmc   +1 more source