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Retinitis pigmentosa (RP) is a genetic disorder of the eyes that causes loss of vision. Symptoms include trouble seeing at night and decreased peripheral vision. As peripheral vision worsens, people may experience "tunnel vision". Complete blindness is uncommon. Onset of symptoms is generally gradual and often in childhood.
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RPE-retinal G protein-coupled receptor also known as RGR-opsin is a protein that in humans is encoded by the RGR gene.
PRP31 pre-mRNA processing factor 31 homolog , also known as PRPF31, is a protein which in humans is encoded by the PRPF31 gene.
Cone-rod homeobox protein is a protein that in humans is encoded by the CRX gene.
Retinaldehyde-binding protein 1 (RLBP1) also known as cellular retinaldehyde-binding protein (CRALBP) is a 36-kD water-soluble protein that in humans is encoded by the RLBP1 gene.
Protein XRP2 is a protein that in humans is encoded by the RP2 gene.
Neural retina-specific leucine zipper protein is a protein that in humans is encoded by the NRL gene.
Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma is an enzyme that in humans is encoded by the PDE6G gene.
X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 is a protein in the ciliary transition zone that in humans is encoded by the RPGRIP1 gene. RPGRIP1 is a multi-domain protein containing a coiled-coil domain at the N-terminus, two C2 domains and a C-terminal RPGR-interacting domain (RID). Defects in the gene result in the Leber congenital amaurosis (LCA) syndrome and in the eye disease glaucoma.
Rod outer segment membrane protein 1 is a protein that in humans is encoded by the ROM1 gene.
Retinal degeneration is a retinopathy which consists in the deterioration of the retina caused by the progressive death of its cells. There are several reasons for retinal degeneration, including artery or vein occlusion, diabetic retinopathy, R.L.F./R.O.P., or disease. These may present in many different ways such as impaired vision, night blindness, retinal detachment, light sensitivity, tunnel vision, and loss of peripheral vision to total loss of vision. Of the retinal degenerative diseases retinitis pigmentosa (RP) is a very important example.
Locus heterogeneity occurs when mutations at multiple genomic loci are capable of producing the same phenotype, and each individual mutation is sufficient to cause the specific phenotype independently. Locus heterogeneity should not be confused with allelic heterogeneity, in which a single phenotype can be produced by multiple mutations, all of which are at the same locus on a chromosome. Likewise, it should not be confused with phenotypic heterogeneity, in which different phenotypes arise among organisms with identical genotypes and environmental conditions. Locus heterogeneity and allelic heterogeneity are the two components of genetic heterogeneity.
Reza Dana is the Claes H. Dohlman Professor of Ophthalmology, senior scientist and W. Clement Stone Clinical Research Scholar at Massachusetts Eye and Ear, Harvard Medical School, and director of the Harvard-Vision Clinical Scientist Development Program.
José-Alain Sahel is a French ophthalmologist and scientist. He is currently the chair of the Department of Ophthalmology at the University of Pittsburgh School of Medicine, director of the UPMC Eye Center, and the Eye and Ear Foundation Chair of Ophthalmology. Dr. Sahel previously lead the Vision Institute in Paris, a research center associated with the one of the oldest eye hospitals of Europe - Quinze-Vingts National Eye Hospital in Paris, founded in 1260. He is a pioneer in the field of artificial retina and eye regenerative therapies. He is a member of the French Academy of Sciences.
Stephen H. Tsang is an ophthalmologist and geneticist. He is currently an Associate Professor of Ophthalmology and an Associate Professor of Cell Biology and Pathology at Columbia University Medical Center in New York City, New York, in the United States.
Robert E. MacLaren FMedSci FRCOphth FRCS FACS VR is a British ophthalmologist who has led pioneering work in the treatment of blindness caused by diseases of the retina. He is Professor of Ophthalmology at the University of Oxford and Honorary Professor of Ophthalmology at the UCL Institute of Ophthalmology. He is a Consultant Ophthalmologist at the Oxford Eye Hospital and an Honorary Consultant Ophthalmologist at the Great Ormond Street Hospital. He is also an Honorary Consultant Vitreo-retinal Surgeon at the Moorfields Eye Hospital. MacLaren is an NIHR Senior Investigator, or lead researcher, for the speciality of Ophthalmology. In addition, he is a member of the research committee of Euretina: the European Society of Retina specialists, Fellow of Merton College, in Oxford and a Fellow of the Higher Education Academy.
Daniel M. Albert is an American ophthalmologist, ocular cancer researcher, medical historian, and collector of rare books and ocular equipment. As of 2018, he is Professor of Ophthalmology at the Casey Eye Institute, Oregon Health & Science University.
Paul A. Sieving is a former director of the National Eye Institute, part of the U.S. National Institutes of Health. Prior to joining the NIH in 2001, he served on the faculty of the University of Michigan Medical School as the Paul R. Lichter Professor of Ophthalmic Genetics. He also was the founding director of the Center for Retinal and Macular Degeneration in the university's Department of Ophthalmology and Visual Sciences.
References
- ↑ Siddhartha Mukherjee (2011). The Emperor of All Maladies: A Biography of Cancer. Simon and Schuster. pp. 376–380. ISBN 978-1-4391-7091-5.
- ↑ Thomas Durso (May 1996). "National Academy of Sciences' Class of 1996 Sets New Record". The Scientist.
- ↑ "Biographical Sketch – Thaddeus P. Dryja" (PDF). Retrieved 26 June 2017.
- 1 2 3 "Thaddeus P. Dryja". National Academy of Sciences. Retrieved 26 June 2017.
- ↑ "Ophthalmology – Thaddeus P. Dryja". National Academy of Sciences. Retrieved 26 June 2017.
- ↑ Thaddeus P. Dryja (1997). "Gene-based approach to human gene-phenotype correlations". Proceedings of the National Academy of Sciences. 94 (22): 12117–12121. doi:10.1073/pnas.94.22.12117. PMC 23721 . PMID 9342372.
- ↑ George B. Bartley (2012). "Interview with Thaddeus P. Dryja, MD". Archives of Ophthalmology. 130 (1): 111–2. doi:10.1001/archophthalmol.2011.382. PMID 22232480.