retinitis pigmentosa (RP)
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Pathology
- degeneration of retinal photoreceptor cells
- atrophy & pigmentary infiltration of inner layers of retina
Genetics
- several forms associated with chromosomal aberrations
- defects in CRB2 gene, unnamed form
- defect in USH2A gene, autosomal recessive form
- defect in CNGA1 gene, autosomal recessive form
- defect in RLBP1 gene, autosomal recessive form
- defects in RGR gene, autosomal recessive form
- defects in PDE6A, autosomal recessive forms
- defects in PDE6B
- defects in CRX[8]
- defect in MERTK gene
- defects in ROM1 may cause retinitis pigmentosa when associated with defects in PRPH2
Clinical manifestations
- constriction of visual fields
- loss of midperipheral visual field
- with progression, loss of far peripheral visual field & eventually central vision
- night blindness
- 'bone corpuscle lumps of pigment'
More general terms
More specific terms
- retinitis pigmentosa type 1 (RP1)
- retinitis pigmentosa type 10 (RP10)
- retinitis pigmentosa type 11 (RP11)
- retinitis pigmentosa type 12 (RP12)
- retinitis pigmentosa type 13 (RP13)
- retinitis pigmentosa type 14 (RP14)
- retinitis pigmentosa type 17 (RP17)
- retinitis pigmentosa type 19 (RP19)
- retinitis pigmentosa type 2 (RP2, X-linked retinitis pigmentosa 2, XLRP-2)
- retinitis pigmentosa type 26 (RP26)
- retinitis pigmentosa type 27 (RP27)
- retinitis pigmentosa type 3 (RP3)
- retinitis pigmentosa type 30 (RP30)
- retinitis pigmentosa type 31 (RP31)
- retinitis pigmentosa type 35 (RP35)
- retinitis pigmentosa type 36 (RP36)
- retinitis pigmentosa type 37 (RP37)
- retinitis pigmentosa type 39 (RP39)
- retinitis pigmentosa type 4 (RP4, rhodopsin-related retinitis pigmentosa)
- retinitis pigmentosa type 41; retinal degeneration autosomal recessive prominin-related (RP41)
- retinitis pigmentosa type 48 (RP48)
- retinitis pigmentosa type 51
- retinitis pigmentosa type 57
- retinitis pigmentosa type 7 (RP7, peripherin-related retinitis pigmentosa)
- retinitis pigmentosa type 9 (RP9)
- retinitis pigmentosa, X-linked with choroidal involvement
- retinitis pigmentosa, X-linked with deafness & sinorespiratory infections
References
- ↑ OMIM https://mirror.omim.org/entry/ 180100
- ↑ OMIM https://mirror.omim.org/entry/180102
- ↑ OMIM https://mirror.omim.org/entry/180103
- ↑ OMIM https://mirror.omim.org/entry/180104
- ↑ OMIM https://mirror.omim.org/entry/180105
- ↑ OMIM https://mirror.omim.org/entry/179605
- ↑ OMIM https://mirror.omim.org/entry/180380
- ↑ 8.0 8.1 OMIM https://mirror.omim.org/entry/268000
- ↑ OMIM https://mirror.omim.org/entry/312600
- ↑ OMIM https://mirror.omim.org/entry/312610
- ↑ Stedman's Medical Dictionary 26th ed, Williams & Wilkins, Baltimore, 1995
- ↑ ARUP consult: Retinitis Pigmentosa/Leber Congenital Amaurosis Panel https://arupconsult.com/ati/Retinitis-Pigmentosa-Leber-Congenital-Amaurosis-Panel
Database
- OMIM: https://mirror.omim.org/entry/180102
- OMIM: https://mirror.omim.org/entry/180103
- OMIM: https://mirror.omim.org/entry/180104
- OMIM: https://mirror.omim.org/entry/180105
- OMIM: https://mirror.omim.org/entry/268000
- OMIM: https://mirror.omim.org/entry/312600
- OMIM: https://mirror.omim.org/entry/312600