Results 91 to 100 of about 7,578 (154)

Foveal hemorrhage in an eye with foveal hypoplasia associated with albinism

Clinical Ophthalmology, 2014
Naonori Masuda, Taiji Hasegawa, Mariko Yamashita, Nahoko Ogata Department of Ophthalmology, Nara Medical University, Nara, Japan Abstract: Oculocutaneous albinism is a group of congenital disorders caused by alterations of melanin biosynthesis.
Masuda N, Hasegawa T, Yamashita M, Ogata N   +3 more
doaj  

A Case of Hermansky–Pudlak Syndrome

Journal of Association of Pulmonologist of Tamil Nadu
Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by a triad of oculocutaneous albinism, bleeding diathesis, and lysosomal storage defects. One of the most severe complications of HPS is interstitial lung disease. There
A. Vasudevan, Gayathri Devi Anur Ramakrishnan   +1 more
doaj   +1 more source

Eye Movement Changes in a Case of Oculocutaneous albinism

, 1994
Electronystagmography is an important method for differential diagnosis of central dizzness and peripherial dizzness. The study of eye movement is necessary for balance test.
이원상
core  

Photoprotective behaviours amongst persons with albinism in Uyo, Nigeria

JEADV Clinical Practice
Background Strict photoprotection is crucial for persons living with albinism (PWAs), especially in Nigeria where the level of solar ultraviolet radiation is particularly high, which further increases the susceptibility of this population to develop ...
Edesiri E. Ighorodje, Charles N. Nga, Chinyere C. Atansi, Omolara Y. Ukpong, Morolayo O. Fabiyi, Udeme‐Abasi U. Nelson   +5 more
doaj   +1 more source

OA1: an intracellular GPCR involved in membrane trafficking during melanosome biogenesis [PDF]

, 2008
Giordano, Francesca
core   +1 more source

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

Spectral correction of patients with oculo and oculocutaneous albinism

, 2000
Using of brown spectral filter in 45 children with oculo and oculocutaneous albinism increased visual acuity average 12%, increased contrast sensitivity in range - distinquishable frequency average on 13,4%, increased resistance to glare average 21 % -24%
Бора, Катерина Василівна
core  

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

, 2019
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   +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