2012 Group Project 5
Abnormal Vision
Introduction
Normal Eye Development
Retinal Development
Abnormal development
Genetic
Leber Congenital Amaurosis
Leber Congenital Amaurosis (LCA) is an inherited retinal degenerative disorder that causes blindness or loss of sight at birth.[1]
History
LCA was first recongnised by Dr Theodor Leber in 1869. He published the paper Ueber Retinitis pigmentosa und angeborene Amaurosa (About Retinitis pigmentosa and congenital Amaurosa) in Archiv fur Ophthalmologie (now known as Graefes Archive of clinical and experimental ophthalmology).[2]
Research Timeline
From 1869-2009, the major contributers to LCA research: "Courtesy: National Eye Institute, National Institutes of Health (NEI/NIH)."
- 1869- Dr. Theodor Leber (1840-1917), German ophthalmologist, first describes what is now known as Leber congenital amaurosis, an inherited retinal disease that causes severe visual impairment early in childhood [3]
- 1932-34- George Wald, Ph.D. first identified vitamin A in the retina during a National Research Council fellowship in biology [4]
- 1965- Human adeno-associated virus (AAV) was discovered.[5]
Epidemiology
LCA has a recessive pattern of inheritance where there is a 25% chance for a child to contract LCA.[6]
Aetiology
Pathology
Outcome and Treatment
New Research Development
Congenital Cataracts
Environmental
Glossary
References
- ↑ http://www.blindness.org/index.php?view=article&catid=38%3Aother-retinal-diseases&id=253%3Aleber-congenital-amaurosis&option=com_content&Itemid=88
- ↑ http://www.springerlink.com/content/rmj766pjrq130011/
- ↑ http://www.nei.nih.gov/lca/timeline.asp
- ↑ http://www.nei.nih.gov/lca/timeline.asp
- ↑ http://www.nei.nih.gov/lca/timeline.asp
- ↑ http://www.blindness.org/index.php?view=article&catid=38%3Aother-retinal-diseases&id=253%3Aleber-congenital-amaurosis&option=com_content&Itemid=88
External Links
External Links Notice - The dynamic nature of the internet may mean that some of these listed links may no longer function. If the link no longer works search the web with the link text or name. Links to any external commercial sites are provided for information purposes only and should never be considered an endorsement. UNSW Embryology is provided as an educational resource with no clinical information or commercial affiliation.
--Mark Hill 12:22, 15 August 2012 (EST) Please leave the content listed below the line at the bottom of your project page.
2012 Projects: Vision | Somatosensory | Taste | Olfaction | Abnormal Vision | Hearing