Results 111 to 120 of about 3,749 (193)

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
europepmc   +1 more source

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

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

Invest Ophthalmol Vis Sci, 2023
Kromberg JGR, Flynn KA, Kerr RA.
europepmc   +1 more source

Quantifying functional vision in a mouse model of oculocutaneous albinism type 1. [PDF]

Sci Rep
Kriebel WG, Larimer-Picciani AM, Nukala M, Sahel JA, Byrne LC.   +4 more
europepmc   +1 more source

Development, safety and efficacy evaluation of actinic damage retarding nano-pharmaceutical treatments in oculocutaneous albinism

, 2017
Introduction: There are at least 17 000 Persons living with albinism (PLWA) in Zimbabwe. Oculocutaneous albinism (OCA) is a congenital amelanistic pigmentation disorder that affects all known vertebrates and has no known cure. Melanogenesis is the body’s
Chifamba, Jephat
core  

Mild Oculocutaneous Albinism Type 1B With Subtle Cutaneous Findings: A Dermatology-Oriented Case Report. [PDF]

Cureus
Montané C, Guarda D, Marquez P, Bascuñan G.   +3 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

Black Piedra in an Amerindian Girl with Oculocutaneous Albinism Type 2. [PDF]

Dermatol Pract Concept, 2023
Piquero-Casals J, Sesto-Casals D, Savino-Asprino JS, Rozas-Muñoz E, Mir-Bonafé JF, Morgado-Carrasco D.   +5 more
europepmc   +1 more source

Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR. [PDF]

Eur J Hum Genet
Farooq M, Bruun GH, Sarusie MVK, Kessel L, Akhtar H, Abdullah U, Ali Z, Shah SA, Ali N, Anjum I, Doktor TK, Andresen BS, Baig SM, Larsen LA, Grønskov K.   +14 more
europepmc   +1 more source

Oculocutaneous albinism: the neurological, behavioral, and neuro-ophthalmological perspective. [PDF]

Eur J Pediatr, 2023
Galli J, Loi E, Dusi L, Pasini N, Rossi A, Scaglioni V, Mauri L, Fazzi E.   +7 more
europepmc   +1 more source