Older patients had higher rates of blindness at presentation (P 0.005); blindness and visual impairment rate at presentation were higher in males than females (P 0.029). [dovepress.com]

DISCUSSION We present a series of retinitis pigmentosa patients who presented with symptoms after 55 years of age. [ncbi.nlm.nih.gov]

• Hypertrichosis

  Aldred Syndrome Alstrom syndrome Amaurosis Hypertrichosis autosomal recessive pericentral pigmentary retinopathy Bork Stender Schmidt Syndrome Chang Davidson Carlson Syndrome Chromosome Xp11.3 Deletion Syndrome Cone Dystrophy 4 Cone Dystrophy, X-Linked [rgd.mcw.edu]

• Hyperpigmentation

  Hyperpigmentation in a bone-spicule configuration in the midperipheral retina is the most conspicuous funduscopic finding. [msdmanuals.com]

• Polyneuropathy

  […] loss can be saved if detection and treatment is begun early: Bassen-Kornzweig syndrome (abetalipoproteinemia), characterized by ataxia, peripheral neuropathy, and steatorrhea; Refsum disease (phytanic acid oxidase deficiency), characterized by ataxia, polyneuropathy [retinalphysician.com]

• Spastic Quadriplegia

  Quadriplegia, Retinitis Pigmentosa, and Mental Retardation Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy Tapetoretinal Degeneration with Ataxia Usher syndrome X-linked cone-rod dystrophy 1 X-linked cone-rod dystrophy 2 X-linked cone-rod dystrophy [rgd.mcw.edu]

• Quadriplegia

  Senior-Loken Syndrome 4 Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES short-rib thoracic dysplasia 9 with or without polydactyly Spastic Quadriplegia [rgd.mcw.edu]

Fundus autofluorescence directed the workup toward a retinal etiology and led to the eventual diagnosis of late-onset retinitis pigmentosa through ERG testing. [ncbi.nlm.nih.gov]

• Microcytosis

  Retinitis Pigmentosa 79 Retinitis Pigmentosa 80 retinitis pigmentosa 81 Retinitis Pigmentosa 83 Retinitis Pigmentosa 84 Retinitis Pigmentosa 85 Retinitis Pigmentosa 86 Retinitis Pigmentosa 87 retinitis pigmentosa 9 RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS [rgd.mcw.edu]

This is a one-time treatment delivered by a specially-trained surgeon who administers the treatment by a sub-retinal injection. [fightingblindness.ie]

There is no cure for RP and treatment options are limited. [clinicaltrials.gov]

Magnet therapy is not advised as the sole treatment for potentially serious medical conditions, and it should not delay diagnosis or treatment with more proven methods. [columbiaeye.org]

Acetazolamide in the treatment of X-linked retinoschisis maculopathy. Arch Ophthalmol. 2007;125:571-573. Grover S, Apushkin MA, Fishman GA. Topical dorzolamide for the treatment of cystoid macular edema in patients with retinitis pigmentosa. [rarediseases.org]

What is the prognosis for retinitis pigmentosa? The prognosis varies widely among RP patients, with some retaining 20/40 or better vision in at least one eye and others eventually losing all useful central vision. [medicinenet.com]

Prognosis The prognosis for patients with retinitis pigmentosa is dependent on the age of onset, and pattern of inheritance. Early-onset symptoms and severe vision loss and night blindness are expected with the autosomal recessive form of RP. [statpearls.com]

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]

Extensive systemic and ocular evaluations are important and should be combined with genotyping in both familial and nonfamilial cases to determine the diagnosis and prognosis. [disorders.eyes.arizona.edu]

According to some studies, individuals with adRP have the best prognosis, with the majority of those younger than age 30 years having a visual acuity of 20/30 or better. [institut-vision.org]

Etiology and Pathophysiology Mutations in the rhodopsin gene account for 30% of cases of autosomal dominant RP. Another 4–6% of autosomal dominant RP is caused by a mutation in the gene for a photoreceptor protein peripherin/RDS. [unboundmedicine.com]

Fundus autofluorescence directed the workup toward a retinal etiology and led to the eventual diagnosis of late-onset retinitis pigmentosa through ERG testing. [ncbi.nlm.nih.gov]

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]

Isolated cases, with no family history, also commonly occur Epidemiology Prevalence in all ages is approximately 1 in 4,000[1]. Three types have been found determined by age of onset. [patient.info]

Clinics, epidemiology and genetics of retinitis pigmentosa. Curr Genomics. 2011;2:236–237. 4. Buch H, Vinding T, La Cour M, et al. [dovepress.com]

Keywords: clinical (human) or epidemiologic studies: natural history • retinal degenerations: hereditary 2010, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. [iovs.arvojournals.org]

Epidemiology Nonsyndromic retinitis pigmentosa has a worldwide prevalence of about one in 5000, and carriers number about one in 1000. Males are affected slightly more often than females due to the X-linked form expressing more frequently in males. [statpearls.com]

Etiology and Pathophysiology Mutations in the rhodopsin gene account for 30% of cases of autosomal dominant RP. Another 4–6% of autosomal dominant RP is caused by a mutation in the gene for a photoreceptor protein peripherin/RDS. [unboundmedicine.com]

Pathophysiology As previously mentioned, there are multiple genetically directed mechanisms for the progress of retinitis pigmentosa. Apoptosis is essentially physiologic programming for cell death, which can be triggered by a genetic mutation. [statpearls.com]

Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management. Indian J Ophthalmol. 2016;64(9):620-7. Radtke ND, Aramant RB, Seiler MJ, Petry HM, Pidwell D. [rarediseases.org]

Genetics Autosomal dominant: 20% Autosomal recessive: 37% X-linked recessive: 4.5% Sporadic: 38.5% Risk Factors Family history General Prevention Genetic counseling No conclusive evidence demonstrates that the amount of light modifies the course of RP [unboundmedicine.com]

Education about the disease is necessary to enhance early presentation, prevent avoidable blindness, and enhance rehabilitation. [dovepress.com]

RP10 form of retinitis pigmentosa. 61 Wang XT...Engel PC 21791244 2011 19 Unveiling novel genes upregulated by both rhBMP2 and rhBMP7 during early osteoblastic transdifferentiation of C2C12 cells. 61 Bustos-Valenzuela JC...Sogayar MC 21943021 2011 20 Prevention [malacards.org]

Prevention Some assessment of the risk of having an affected child may be made by genetic counselling. There may be a future role for gene therapy[16]. [patient.info]

NEI supports research to develop a variety of treatments to prevent vision loss and restore sight. Gene therapy for several different types of RP has shown promise in the laboratory. [nei.nih.gov]