Molecular genetics of human retinal disease

A Rattner, H Sun, J Nathans - Annual review of genetics, 1999 - annualreviews.org
▪ Abstract The past decade has witnessed extraordinary progress in retinal disease gene
identification, the analysis of animal and tissue culture models of disease processes, and the …

Inherited retinal degeneration: exceptional genetic and clinical heterogeneity

LS Sullivan, SP Daiger - Molecular Medicine Today, 1996 - cell.com
The function of the retina is to detect light and to send appropriate signals to the brain in
response. Inherited diseases that cause the retina to degenerate, leading to either partial or …

Animal models of retinal disease

EL Fletcher, AI Jobling, KA Vessey, C Luu… - Progress in molecular …, 2011 - Elsevier
Diseases of the retina are the leading causes of blindness in the industrialized world. The
recognition that animals develop retinal diseases with similar traits to humans has led to not …

The molecular basis of human retinal and vitreoretinal diseases

W Berger, B Kloeckener-Gruissem… - Progress in retinal and eye …, 2010 - Elsevier
During the last two to three decades, a large body of work has revealed the molecular basis
of many human disorders, including retinal and vitreoretinal degenerations and …

Comprehensive analysis of gene expression in human retina and supporting tissues

M Li, C Jia, KL Kazmierkiewicz… - Human molecular …, 2014 - academic.oup.com
Understanding the influence of gene expression on the molecular mechanisms
underpinning human phenotypic diversity is fundamental to being able to predict health …

Identifying retinal disease genes: how far have we come, how far do we have to go?

SP Daiger - Retinal Dystrophies: Functional Genomics to Gene …, 2003 - Wiley Online Library
One of the great success stories in retinal disease (RD) research in the past decade has
been identification of many of the genes and mutations causing inherited retinal …

Molecular genetics of retinitis pigmentosa

TP Dryja, T Li - Human Molecular Genetics, 1995 - academic.oup.com
Hereditary degenerations and dysfunctions of the retina are an extremely heterogeneous
group of diseases. This summary deals with recent advances in the molecular genetics of a …

Perspective on genes and mutations causing retinitis pigmentosa

SP Daiger, SJ Bowne, LS Sullivan - Archives of ophthalmology, 2007 - jamanetwork.com
Exceptional progress has been made during the past two decades in identifying genes
causing inherited retinal diseases such as retinitis pigmentosa. An inescapable …

[HTML][HTML] Genomic analysis of mouse retinal development

S Blackshaw, S Harpavat, J Trimarchi, L Cai… - PLoS …, 2004 - journals.plos.org
The vertebrate retina is comprised of seven major cell types that are generated in
overlapping but well-defined intervals. To identify genes that might regulate retinal …

Genetics of inherited retinal disease

PJ Francis - Journal of the Royal Society of Medicine, 2006 - journals.sagepub.com
The introduction of ophthalmoscopy towards the end of the 19th century afforded physicians
for the first time detailed views of the fundus of the eye. Over the subsequent 150 years, a …