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retina (photosenstitive receptor cells). In contrast to rod-cone dystrophies, individuals experience deterioration of the cone cells more severely than the rod cells. Initial signs and symptoms typically include decreased visual acuity when looking straight ahead (central vision loss); loss of color perception; and an abnormal sensitivity to light (photophobia). These signs are usually followed by progressive loss of peripheral vision and night blindness. Most cases occur due to mutations in any one of several genes, and CRDs can be inherited as autosomal recessive, autosomal dominant, X-linked or mitochondrial (maternally-inherited) traits. CRDs are usually non-syndromic, but they may also be part of several syndromes. Currently, there is no therapy that stops progression of the disease or restores vision; management aims at slowing the process, treating complications and helping individuals cope with the social and psychological impact of blindness.Cone-rod dystrophies (CRDs) are a group of inherited eye disorders that affect both the cone and rod cells of the
Last updated: 5/23/2011
- Cone Dystrophy. NORD. 2010; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/847/viewAbstract. Accessed 6/19/2013.
- C. Hamel. Cone rod dystrophy. Orphanet. February 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1872. Accessed 5/22/2011.
- Genetics Home Reference (GHR) contains information on Cone-rod dystrophy. This website is maintained by the National Library of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Cone-rod dystrophy. Click on the link to view a sample search on this topic.