The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Simplex cases can also result from a new gene mutation that is not present in other family members. Other Names for This Condition Pigmentary retinopathy Rod-cone dystrophy RP Tapetoretinal degeneration References Daiger SP, Bowne SJ, Sullivan LS. [medlineplus.gov]

• Pallor

  Fundus examination reveals bone spicule pigment deposits, attenuated retinal vessels, retinal atrophy and waxy optic nerve pallor. [orpha.net]

• Night Blindness

  Blindness X,XR,G 100 – CACNA2D4 Retinal Cone Dystrophy, Cone Rod Dystrophy, Congenital Stationary Night Blindness AR 99.64 7 of 7 CC2D2A Coach Syndrome, Joubert Syndrome, Meckel Syndrome AR 99.43 98 of 100 CCDC103 Primary Ciliary Dyskinesia AR 99.92 [igenomix.es]

  Affected individuals generally first develop night blindness (nyctalopia) due to loss of rod function, often in adolescence or earlier. [orpha.net]

Management and treatment Treatment is primarily aimed at slowing progression of the disease. Vitamin A palmitate and lutein-DHA may be provided as protecting antioxydants. [orpha.net]

Prognosis Except for mild cases or sectorial RP, most cases progress to legal blindness (visual acuity < 1/20 and visual field < 5 degrees). The documents contained in this web site are presented for information purposes only. [orpha.net]

Etiology More than 3,000 mutations in over 57 different genes or loci are currently known to cause non-syndromic RP. [orpha.net]

Summary Epidemiology Prevalence of RP is reported to be 1/3,000 to 1/5,000. No ethnic specificities have been reported although founder effects are possible. Clinical description Retinitis pigmentosa is slowly progressive but relentless. [orpha.net]