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]

• Pallor

  All of them showed waxen pallor in the optic disc and 92% showed arteriolar attenuation. [go.gale.com]

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

• Fever

  Bardet-Biedl syndrome 11 615988 TRNT1 Retinitis pigmentosa and erythrocytic microcytosis, 616959 TRNT1 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 TRPM1 Night blindness, congenital stationary (complete [qgenomics.com]

• Osteoporosis

  […] syndrome, 259770 LRP5 Osteosclerosis, 144750 LRP5 van Buchem disease, type 2 607636 LRP5 [Bone mineral density variability 1], 601884 LRP5 {Osteoporosis}, 166710 LSS Cataract 44 616509 LYST Chediak-Higashi syndrome, 214500 LZTFL1 Bardet-Biedl syndrome [qgenomics.com]

• Night Blindness

  Night blindness, congenital stationary, type 1G, 616389 GNAT2 Achromatopsia-4, 613856 GNB3 Night blindness, congenital stationary, type 1H, 617024 GNB3 {Hypertension, essential, susceptibility to}, 145500 GNPTG Mucolipidosis III gamma, 252605 GPR143 Nystagmus [qgenomics.com]

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

  It characterizes by a night blindness and loss of the peripheral visual field. It usually appears prematurely in the youth years. This article aims to describe the eye and visual clinical findings in 12 patients with retinitis pigmentosa. [go.gale.com]

• Scotoma

  Relative scotoma was more frequent, although visual acuity between 20/400 and PL of 25%, and 41.7% of the patients had absolute scotoma in the right and left eyes, respectively. [go.gale.com]

• Seizure

  Febrile seizures, familial, 4 604352 GRK1 Oguchi disease-2, 613411 GRM6 Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 GRN Aphasia, primary progressive, 607485 GRN Ceroid lipofuscinosis, neuronal, 11 614706 GRN Frontotemporal [qgenomics.com]

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]