Contents

Search

retinitis pigmentosa (RP)

Pathology: 1) degeneration of retinal photoreceptor cells 2) atrophy & pigmentary infiltration of inner layers of retina Genetics: 1) several forms associated with chromosomal aberrations 2) defects in CRB2 gene, unnamed form 3) defect in USH2A gene, autosomal recessive form 4) defect in CNGA1 gene, autosomal recessive form 5) defect in RLBP1 gene, autosomal recessive form 6) defects in RGR gene, autosomal recessive form 7) defects in PDE6A, autosomal recessive forms 8) defects in PDE6B 9) defects in CRX [8] 10) defect in MERTK gene 11) defects in ROM1 may cause retinitis pigmentosa when associated with defects in PRPH2 Clinical manifestations: 1) constriction of visual fields a) loss of midperipheral visual field b) with progression, loss of far peripheral visual field & eventually central vision 2) night blindness 3) 'bone corpuscle lumps of pigment'

Interactions

disease interactions

Specific

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

General

genetic disease of the eye retinitis sign/symptom

Database Correlations

OMIM correlations

References

  1. OMIM :accession 180100
  2. OMIM :accession 180102
  3. OMIM :accession 180103
  4. OMIM :accession 180104
  5. OMIM :accession 180105
  6. OMIM :accession 179605
  7. OMIM :accession 180380
  8. OMIM :accession 268000
  9. OMIM :accession 312600
  10. OMIM :accession 312610
  11. Stedman's Medical Dictionary 26th ed, Williams & Wilkins, Baltimore, 1995
  12. ARUP consult: Retinitis Pigmentosa/Leber Congenital Amaurosis Panel https://arupconsult.com/ati/Retinitis-Pigmentosa-Leber-Congenital-Amaurosis-Panel