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Progressive Retinal Atrophy rcd2 (PRA-rcd2)

General

Disease Name
Progressive Retinal Atrophy rcd2 (PRA-rcd2)
Disease Name 2
Rod-Cone Dysplasia 2 (rcd2)
OMIA
1260
Gene Name
RD3
Gene Name 2
RCD2
Mutation
22 bp insertion in exon 4
OMIM
610612
Disease Code
RCD2
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
Progressive Retinal Atrophy, rcd-2
Details
PRA rcd2 is a disease of the retina. All forms of rcd are characterised by the initial loss of rods, the retinal cells that operate during night vision, followed by the degeneration of cones, the cells in the retina that are responsible for vision in bright light/daylight. The disease effects of rcd2 are an early onset and may be detected by an opthamologist when 6 weeks old. Vision will be lost progressively, with complete blindness by 12 months.
Details 2
PRA rcd2 is a disease of the retina. All forms of rcd are characterised by the initial loss of rods, the retinal cells that operate during night vision, followed by the degeneration of cones, the cells in the retina that are responsible for vision in bright light/daylight. The disease effects of rcd2 are an early onset and may be detected by an opthamologist when 6 weeks old. Vision will be lost progressively, with complete blindness by 12 months.
Published
Kukekova, AV., Nelson, J., Kuchtey, RW., Lowe, JK., Johnson, JL., Ostrander, EA., Aguirre, GD., Acland, GM. : Linkage mapping of canine rod cone dysplasia type 2 (rcd2) to CFA7, the canine orthologue of human 1q32. Invest Ophthalmol Vis Sci 47:1210-5, 2006. Pubmed reference: 16505060. DOI: 10.1167/iovs.05-0861.
Published 2
Kukekova, AV., Goldstein, O., Johnson, JL., Richardson, MA., Pearce-Kelling, SE., Swaroop, A., Friedman, JS., Aguirre, GD., Acland, GM. : Canine RD3 mutation establishes rod-cone dysplasia type 2 (rcd2) as ortholog of human and murine rd3. Mamm Genome 20:109-23, 2009. Pubmed reference: 19130129. DOI: 10.1007/s00335-008-9163-4.
Body/System/Process
Eye
Inheritance
AR
Gene Name Text
retinal degeneration 3
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