Molecular Genetics of Human Retinal Disease
- 1 December 1999
- journal article
- review article
- Published by Annual Reviews in Annual Review of Genetics
- Vol. 33 (1) , 89-131
- https://doi.org/10.1146/annurev.genet.33.1.89
Abstract
▪ 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 integration of this information with clinical observations and with retinal biochemistry and physiology. During this period over twenty retinal disease genes were identified and for many of these genes there are now significant insights into their role in disease. This review presents an overview of the basic and clinical biology of the retina, summarizes recent progress in understanding the molecular mechanisms of inherited retinal diseases, and offers an assessment of the role that genetics will play in the next phase of research in this area.Keywords
This publication has 97 references indexed in Scilit:
- Usher syndrome: Definition and estimate of prevalence from two high-risk populationsPublished by Elsevier ,2004
- Population genetics—making sense out of sequenceNature Genetics, 1999
- A candidate gene for the mouse mutation tubbyNature, 1996
- Constitutive Activation of Opsin: Interaction of Mutants with Rhodopsin Kinase and ArrestinBiochemistry, 1995
- Defective myosin VIIA gene responsible for Usher syndrome type IBNature, 1995
- Control of substrate flow at a branch in the visual cycleBiochemistry, 1994
- Rhodopsin mutation G90D and a molecular mechanism for congenital night blindnessNature, 1994
- Cloning of a gene that is rearranged in patients with choroideraemiaNature, 1990
- Absence of receptor outer segments in the retina of rds mutant miceNeuroscience Letters, 1981
- Vertebrate rod outer segment membranesBiochimica et Biophysica Acta (BBA) - Reviews on Biomembranes, 1973