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]

• Developmental Delay

  “Floppiness,” eating difficulties, and developmental delays are common symptoms; progressive external ophthalmoplegia (PEO) and seizures are less common. [mda.org]

  After an initial symptom-free phase, a developmental delay is generally noted at the age of 2–6 years. During the second phase, progressive loss of cognition, behavioral and sleeping problems manifest. [ojrd.biomedcentral.com]

  Some children with De Morsier's Syndrome have normal intelligence, while others may be developmentally delayed, learning-disabled, or mentally retarded. [afb.org]

• Anemia

  Other common symptoms include conduction block (in the heart), deafness, diabetes, anemia, and ataxia (impaired coordination). Less typical symptoms are cognitive disability or deterioration, delayed sexual maturation, and short stature. [mda.org]

• Abdominal Pain

  pain, diarrhea.9,10,11,12 Myoclonus epilepsy with ragged red fibers (MERRF) Onset: Childhood, usually after a normal development Symptoms: The most prominent symptoms are myoclonus (muscle jerks), seizures, ataxia (impaired coordination), and myopathy [mda.org]

• Diarrhea

  […] dysmotility, cachexia (extreme weight loss and muscle wasting), ophthalmoplegia (paralysis of the extraocular muscle), ophthalmoparesis (weakness of the extraocular muscle) without diplopia (double vision), gastrointestinal reflux, episodic abdominal pain, diarrhea [mda.org]

• Myopathy

  Together, Leigh syndrome and MELAS are the most common mitochondrial myopathy. [mda.org]

  Severe Chain1175 Night Blindness, Congenital Stationary, Type 2B Chain1176 Nightblindness, Congenital Stationary Chain1191 Nystagmus Chain1215 Optic Atrophy 1 Chain1216 Optic Atrophy 1 with Deafness Chain1217 Optic Atrophy, Deafness, Opthalmoplegia, and Myopathy [sequencing.com]

• Visual Hallucination

  This may even progress to the point of visual hallucinations. The disease may involve vision loss alone, and in this event is referred to as "nonsyndromic" RP. The majority of RP cases, about 70% to 80%, fall into the nonsyndromic category. [statpearls.com]

  In contrast, a previous study has reported a different set of symptoms (day-to-day visual fluctuations, intermittent diplopia, photopsia, high glare, and visual hallucinations).18 Individuals with RP experience different levels of stress. [nature.com]

• Stroke

  Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) Onset: Usually in childhood Symptoms: MELAS causes lactic acidosis (buildup of lactate in the body) and recurrent stroke-like episodes in the brain, migraine-type headaches [mda.org]

  Patients become obese, making them vulnerable to all the related health problems such as high blood pressure, strokes and heart disease. [lowvision.preventblindness.org]

  Since ATP binding triggers NBD dimerization, the formation of the dimer may represent the 'power stroke'. [spandidos-publications.com]

  Hemianopia, also known as hemianopsia, may be caused by various medical conditions, but usually results from a stroke or brain injury. It may affect either the right or left side of the visual field and is usually permanent. [afb.org]

• Headache

  Excessive doses may cause nausea, vomiting, headache, blurred vision, dizziness, liver problems, and clumsiness. It may also increase a person's risk of developing osteoporosis. Vitamin A appears safe in pregnant women if taken at recommended doses. [columbiaeye.org]

  People with this condition may squint to see distant objects and experience eyestrain or, sometimes, headaches. Eyeglasses or contact lenses can correct myopia. Surgery is another alternative. [afb.org]

  Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) Onset: Usually in childhood Symptoms: MELAS causes lactic acidosis (buildup of lactate in the body) and recurrent stroke-like episodes in the brain, migraine-type headaches [mda.org]

• Clumsiness

  Excessive doses may cause nausea, vomiting, headache, blurred vision, dizziness, liver problems, and clumsiness. It may also increase a person's risk of developing osteoporosis. Vitamin A appears safe in pregnant women if taken at recommended doses. [columbiaeye.org]

  As their visual field becomes restricted, patients often trip over things and appear clumsy. People with RP often find bright lights uncomfortable, a condition known as photophobia. [nei.nih.gov]

• Spastic Quadriplegia

  […] and Pigmentary Tapetoretinal Degeneration SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES short-rib thoracic dysplasia 9 with or without polydactyly Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation Spondylometaphyseal [rgd.mcw.edu]

• Encephalopathy

  Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome. Ann. Neurol. (1984). doi:10.1002/ana.410160409 Montagna, P. et al. [mda.org]

• Renal Injury

  […] diagnostic value in Alzheimer's disease. 61 Perez-Grijalba V...Sarasa M 25061046 2015 14 Cell-specific differences in the processing of the R14W CAIV mutant associated with retinitis pigmentosa 17. 61 Pandor A...Prince S 20626030 2010 15 Progressive renal [malacards.org]

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]

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]

The aim is to better understand the long-term prognosis (outcomes) of the condition and to work out the underlying mechanism of the disease. [newcastle-hospitals.org.uk]

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]

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]

Characterized by poor night vision, constricted visual fields, bone spicule-like pigmentation of the fundus, and electroretinographic evidence of photoreceptor cell dysfunction System(s) affected: nervous Synonym(s): rod-cone dystrophy; retinal dystrophy Epidemiology [unboundmedicine.com]

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]

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]

Anatomical changes and pathophysiology of the brain in mucopolysaccharidosis disorders. Mol Genet Metabol. 2018. https://doi.org/10.1016/j.ymgme.2018.08.003. 4. Archer LD, Langford-Smith KJ, Bigger BW, Fildes JE. [ojrd.biomedcentral.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]

Early detection through regular eye examination and prompt treatment is essential to prevent vision loss. [afb.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]