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2.1
Late-Adult Onset Retinitis Pigmentosa
Retinitis Pigmentosa

Presentation

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]

Entire Body System

  • Asymptomatic

    Late-onset RP typically is asymptomatic and unrecognized until age 40 to 50 years. [unboundmedicine.com]

    She was already known with asymptomatic HCM after a routine electrocardiography checkup. After diagnosis of MPS III she was diagnosed with asymptomatic retinal dystrophy. She has mild hepatomegaly on ultrasound. [ojrd.biomedcentral.com]

    For example, in autosomal-dominant disease, the affected member may remain asymptomatic. [retinalphysician.com]

    Female carriers generally are asymptomatic but may also have severe RP. Occasionally they have an unusual tapetal reflex consisting of a ‘beaten metal’ appearance or sometimes scintillating, golden patches. [disorders.eyes.arizona.edu]

    This study was based on a family consisting of three members: proband, age 54, with high myopia, myopic chorioretinitis and retinal dystrophy; wife, age 65, with mild symptoms; daughter, age 29, asymptomatic. [spandidos-publications.com]

  • Surgical Procedure

    The surgical procedure itself is not more complicated than regular cataract removal from an eye with no retinal degeneration. [institut-vision.org]

Eyes

  • Blurred Vision

    […] gradually bulges outward, causing blurred or distorted vision. [afb.org]

    Loss of central vision is experienced by the person as having a blurred spot in the center of their vision. Loss of Color Vision In some cases, individuals with retinitis pigmentosa may experience some form of color blindness. [irisvision.com]

    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]

  • Peripheral Vision Loss

    When retinitis pigmentosa is suspected, visual field testing likely will be conducted during or after your routine eye exams to determine the extent of peripheral vision loss. [allaboutvision.com]

    Someone with relatively normal vision will be able to see the light across quite a wide area, but someone with peripheral vision loss will have vision limited to a small central spot. [lowvision.preventblindness.org]

Psychiatrical

  • 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]

Neurologic

  • 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]

Workup

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]

Treatment

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]

Prognosis

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]

Etiology

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]

Epidemiology

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]

Pathophysiology

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]

Prevention

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]

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