Results 91 to 100 of about 57,799 (256)
Unilateral retinitis pigmentosa and cone-rod dystrophy
, 2009 Donald F FarrellEEG and Clinical Neurophysiology Laboratory, University of Washington Medical Center, Seattle, WA, USAPurpose: The purpose of this paper is to report 14 new cases of unilateral retinitis pigmentosa and three new cases of cone-rod ...
Donald F Farrell
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Journal of Photochemistry and Photobiology B: Biology, 2001 The retina represents a paradox, in that, while light and oxygen are essential for vision, these conditions also favour the formation of reactive oxygen species leading to photochemical damage to the retina. Such light damage seems to be multi-factorial and is dependent on the photoreactivity of a variety of chromophores (e.g., vitamin A metabolites ...
Boulton, Mike +2 more
openaire +3 more sources
Exploring fundus‐controlled mesopic and scotopic perimetry in inherited retinal disease
Acta Ophthalmologica, EarlyView.Abstract Purpose Microperimetry is increasingly used as an outcome measure in clinical trials for retinal disease. This study compares mesopic and scotopic microperimetry in a heterogeneous cohort of patients with inherited retinal disease to assess their suitability as clinical trial outcome measures and to determine the most appropriate testing ...
Laura J. Taylor +4 more
wiley +1 more source
Towards identifying the ADRP gene in a large South African family with retinitis pigmentosa
, 2000 Bibliography: leaves 162-190.The present study was initiated with the aim of elucidating the molecular genetic basis of the RP phenotype segregating in a large SA family of British origin.
Goliath, René
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The effect of rhegmatogenous retinal detachment on retinal oxygenation
Acta Ophthalmologica, EarlyView.Abstract Purpose Little is known about the effects of retinal detachment on oxygen extraction from retinal vessels. The role of oxygen supply from the retinal vessels in a detached area has not previously been investigated in vivo in humans. Retinal oximetry is a non‐invasive measurement of retinal oxygen saturation.
Anne‐Sofie Petri +8 more
wiley +1 more source
Changing uveitis patterns in South India - Comparison between two decades
Indian Journal of Ophthalmology, 2018 Purpose: Changing pattern of uveitis in a subset of a population is an important ocular health indicator. Methods: A comparative study was done between uveitis patients of 2013 and 1995 using two proportions Z-test.
Jyotirmay Biswas +2 more
doaj +1 more source
The cellular fate of mutant rhodopsin: quality control, degradation and aggresome formation
, 2002 Mutations in the photopigment rhodopsin are the major cause of autosomal dominant retinitis pigmentosa. The majority of mutations in rhodopsin lead to misfolding of the protein.
Munro, PMG +3 more
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Clinical Genetics, EarlyView.FIG4 is essential for lysosomal homeostasis. FIG4‐related disorders present as a continuous spectrum from the juvenile lethality in Yunis‐Varon syndrome to an increased risk of amyotrophic lateral sclerosis (ALS) in adult life. FIG4‐related disorders comprise a novel group of disorders of lysosomal homeostasis and can be classified into severe ...
Pankaj Prasun, Matthew Rasberry
wiley +1 more source
Post Fever Uveoretinal Manifestations in an Immunocompetent Individual
European Medical Journal Allergy & Immunology, 2020 Background: Post fever uveoretinal sequelae (PFURS) are the various uveoretinal manifestations seen after a systemic febrile illness in an immunocompetent individual caused by bacteria, viruses, and protozoa.
Sameeksha Agrawal +4 more
doaj
Clinical Genetics, EarlyView.The Burden: Hearing loss (HL) is the most prevalent sensory disorder globally, affecting 1.5 million individuals in Brazil. The Gap: While > 150 genes are linked to HL, the genetic architecture in underrepresented populations like Brazil is poorly defined. The Problem: This lack of data limits diagnostic yield and the application of precision medicine.
Stella Diogo‐Cavassana +7 more
wiley +1 more source