Retinitis pigmentosa (RP)

The condition includes a multitude of syndromes leading to retinal degeneration and starts to manifest with nyctalopia and peripheral vision impairment that develops gradually [1] [2] [3]. Central vision may also be affected, but its onset is usually delayed. Retinitis pigmentosa initially starts to manifest at some point between the age of 10 to 30 years old, although nyctalopia and peripheral vision abnormality may first be experienced during childhood or infancy. Regarding the signs of RP, pigmentation abnormalities tend to appear as granules or localized aggregates, as retinal pigmentation is unevenly distributed. Various other ophthalmologic pathologies may accompany RP, including myopia, keratoconus, glaucoma (open-angle), cataract and vitreous irregularities.

CMV-related retinitis

Retinitis caused by a CMV infection presents as a viral necrotizing retinitis and is primarily diagnosed in patients who are immunodeficient due to various causes, including AIDS syndrome, chemotherapy, organ transplantation or leukemia [4] [5] [6] [7]. The precise distribution of the retinal lesions stipulates the type and extent of the symptom initially reported by the patients; thus, damage to the peripheral retinal regions may be asymptomatic and lesions located more centrally tend to lead to a reduced visual acuity. Retinitis caused by CMV develops gradually over time and ultimately causes blindness, if left untreated [8].

• Low Fever

  The patient mentioned loss of appetite, weight loss for three months and low fever for two weeks. Materials and methods. [ncbi.nlm.nih.gov]

• Larva Migrans

  Visceral larva migrans and peripheral retinitis. JAMA. 1965;194:1345-1347. Hagler WS, Pollard ZF, Jarrett WH, et al. Results of surgery for ocular Toxocara canis. Ophthalmology. 1981;88:1081-1086. Amin HI, McDonald HR, Han DP, et al. [retinalphysician.com]

• Night Blindness

  In young patients with the symptom of night blindness, it is important to differentiate retinitis pigmentosa from stationary night blindness. [ommbid.mhmedical.com]

  The earliest symptom of retinitis pigmentosa, usually noticed in childhood, is night blindness or difficulty with night vision. People with normal vision adjust to the dark quickly, but people with night blindness adjust very slowly or not at all. [retinaspecialistsnw.com]

  night blindness  Retinitis PigmentosaRetinitis Pigmentosa 8. [slideshare.net]

• Scotoma

  Three months later, his corrected VA was 20/20 with relative scotoma in Amsler grid, normal color vision, no scotoma in HVF 10-2 and unchanged SDOCT findings. [ncbi.nlm.nih.gov]

  A peripheral ring scotoma (detectable by visual field testing) widens gradually, and central vision may also be affected in advanced cases. [merckmanuals.com]

  A ring scotoma is usually evident. Age of onset and rate of progression is highly variable, even within families. The rods are impacted early but cone deterioration with loss of central vision usually follows. [disorders.eyes.arizona.edu]

• Photophobia

  In infants, RPE65 retinitis pigmentosa is characterised by severe night blindness and moderate photophobia. The RPE65 protein, located in the RPE, is key component of in the visual cycle. [horama.fr]

  People with RP often find bright lights uncomfortable, a condition known as photophobia. [markennovy.com]

  Symptoms The symptoms of retinitis pigmentosa are night blindness in early stage, photophobia, patchy loss of peripheral vision, tunnel vision, and color perception impairment [2]. 3. [fortunejournals.com]

• Visual Acuity Decreased

  The visual acuity decrease was not statistically significant. The only statistically significant result was the decrease of VA from the beginning of pregnancy to month 5 post- partum (p 0.04). [iovs.arvojournals.org]

  Removal of the cataracts may lessen glare and improve visual acuity. Decreased Visual Acuity A portion of RP patients, will experience a loss of central vision. One study found about one third had vision loss to a level of 20/200 or worse. [lowvision.org]

• Retinal Scar

  Two patients were not treated (patients 1 and 8), one of whom (patient 8) had received an autologous transplant and was diagnosed with atrophic retinal scarring compatible with previous CMV active retinitis after spontaneous resolution of the acute retinitis [academic.oup.com]

  Of these cases, up to 40% are bilateral.104 The diagnosis of ocular toxoplasmosis is based on characteristic retinal scars, supported by serologic antibody tests such as the indirect fluorescent antibody test and the enzyme-linked immunosorbent assay [retinalphysician.com]

• Micropsia

  At presentation, his corrected visual acuity was 20/25 with subfoveal yellow dot similar to solar retinopathy, central scotoma with reduced foveal threshold in HVF 24-2, micropsia in Amsler grid, missing of two plates on Ishihara color vision chart, transfoveal [ncbi.nlm.nih.gov]

Retinitis pigmentosa

Patients suspected to be suffering from retinitis pigmentosa are first evaluated via slit-lamp biomicroscopy. A comprehensive ophthalmological assessment is required as well, including a visual acuity and visual field evaluation, a pupillary response test and a color defectiveness determination test.

The examination that plays the most pivotal role in the diagnosis of RP is the electroretinogram (ERG), which requires specialized ophthalmologists to be carried out. The ERG method has been developed over the recent years and is a valuable tool that can help to establish a definitive RP diagnosis [9] [10]. It enables the physicians to accurately measure and map the response of the retina to light stimulus and evaluate the functionality of rods and cones. Additional tests that may be required include an ocular ultrasound, optical computer tomography (OCT) and fluorescein angiography.

CMV-related retinitis

Retinitis caused by a CMV infection can be diagnosed via a variety of diagnostic methods. As far as serology is concerned, it can detect both immunoglobulin M (IgM) and immunoglobulin G (IgG) antibodies in the serum. An infection that has been recently contracted is expected to yield results including a 4-fold augmentation of IgG antibodies and a significant increase of IgM antibodies. Of note, patients with a concurrent Epstein-Barr virus (EBV) or human herpesvirus 6 infection can also exhibit the aforementioned increase in IgG and IgM antibodies.

Furthermore, the polymerase chain reaction test (PCR) can also be used to detect a CMV infection that has caused retinitis. It can yield positive results earlier than serology, especially in cases of patients with viremia, following transplantation. A shell vial assay can produce positive culture results in 24 to 48 hours, thus allowing for prompt treatment initiation. A chest radiograph and a chest computerized tomography scan (CT) can both help to detect lesions in the lungs that are compatible with a CMV infection. Lastly, a biopsy can also be used to identify an ocular CMV infection.

• Lymphopenia

  Eight of 10 patients who developed retinitis had a prolonged period of postconditioning-related lymphopenia. [academic.oup.com]

• Borrelia Burgdorferi

  Retinitis also may be associated with cat-scratch disease from Bartonella species carried by cat fleas (Figure 3), with Lyme disease from Borrelia burgdorferi carried by Ixodes ticks, with syphilis caused by Treponema pallidum or tuberculosis caused by [asrs.org]

CONCLUSION: Treatment of unrecognized syphilitic uveitis with corticosteroids in the absence of antitreponemal treatment can lead to the development of multifocal retinitis. [ncbi.nlm.nih.gov]

Treatment If you have retinitis, it's important to see an eye doctor (ophthalmologist) regularly. Treatment for RP. Supplements may slow the disease. [webmd.com]

Since 1992, doctors in Cuba have offered a treatment for RP, which is available at a cost of 10 000 CDN for the initial treatment, plus 4900 CDN for each subsequent annual ozone treatment. 2 The Cuban treatment is open to anyone seeking treatment, both [cos-sco.ca]

PrognosisPrognosis  AR has favorable prognosis, retention of centralAR has favorable prognosis, retention of central vision until 5vision until 5thth -6-6thth decade.decade.  AD best prognosis, retention of central visionAD best prognosis, retention [slideshare.net]

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]

Real-time polymerase chain reaction and serology confirmed the toxoplasma etiology, and the patient was started on anti-toxoplasma therapy along with oral corticosteroid leading to regression of the lesion by 3 months. [ncbi.nlm.nih.gov]

Prevention The characterization of mutations in genes already involved in RP and thus the etiology based on DNA analysis, is, at present, a high cost and laborious task. [barraquer.com]

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

Cite this article as: Francesco Parmeggiani, “ Editorial [Hot Topic: Clinics, Epidemiology and Genetics of Retinitis Pigmentosa (Guest Editor: Francesco Parmeggiani)]”, Current Genomics (2011) 12: 236. [doi.org]

Clinics, Epidemiology and Genetics of Retinitis Pigmentosa. Current Genomics, 12(4), 236–237. External links[edit] Classification D ICD-10: H30.9 ICD-9-CM: 363.20 MeSH: D012173 SNOMED CT: 399463004 [en.wikipedia.org]

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]

Pathophysiology and symptoms of Retinitis pigmentosa In Retinitis pigmentosa there are initial vision problems especially in dim light. This manifests as a loss of vision around the peripheries. This is known as tunnel vision. [news-medical.net]

Retinitis Pigmentosa: Pathophysiology and its Management. Fortune Journal of Health Sciences 1 (2018): 019-025. [fortunejournals.com]

Pathophysiology CMV reaches the retina hematogenously and infects the vascular endothelium which then spreads to the retinal cells. Impaired CD4 cell function permits uncontrolled CMV replication. [eyewiki.aao.org]

Research to Prevent Blindness   Resources  RPB Vision Resources The term retinitis pigmentosa (RP) refers to a group of hereditary diseases, all of which eventually result in severe vision loss. [rpbusa.org]

למאמר המלא לחץ כאן The evidence for efficacy of omega-3 fatty acids in preventing or slowing the progression of retinitis pigmentosa: a systematic review. [omega3galil.com]

To help prevent blindness, doctors both treat the retinitis and work to strengthen your immune system. You may need an antiviral medication such as ganciclovir. You might take pills by mouth or receive an injection into a vein or eye. [webmd.com]

[…] contacting any one of the following organizations: Foundation Fighting Blindness 11435 Cronhill Drive Owings Mills, MD 21117 (410) 568-0150 National Eye Institute National Institutes of Health 31 Center Drive MSC 2510 Bethesda, MD 20892 (301) 496-5248 Prevent [discoveryeye.org]

1. Weleber RG, Gregory-Evans K. Retinitis pigmentosa and allied disorders. In: Ryan SJ, ed. Retina, 4th ed. Philadelphia, PA: Elsevier Mosby; 2006:395-498.
2. Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet. 2006;368:1795-1809.
3. Pruett RC. Retinitis pigmentosa: clinical observations and correlations. Trans Am Ophthalmol Soc. 1983;81:693-735.
4. Murray HW, Knox DL, Green WR, Susel RM. Cytomegalovirus retinitis in adults. A manifestation of disseminated viral infection. Am J Med. 1977 Oct; 63(4):574-84.
5. Pertel P, Hirschtick R, Phair J, et al. Risk of developing cytomegalovirus retinitis in persons infected with the human immunodeficiency virus. J Acquir Immune Defic Syndr. 1992; 5(11):1069-74.
6. Nasir MA, Jaffe GJ. Cytomegalovirus retinitis associated with Hodgkin''s disease. Retina. 1996; 16(4):324-7.
7. Hiwarkar P, Gajdosova E, Qasim W, et al. Frequent Occurrence of Cytomegalovirus Retinitis During Immune Reconstitution Warrants Regular Ophthalmic Screening in High-Risk Pediatric Allogeneic Hematopoietic Stem Cell Transplant Recipients. Clin Infect Dis. 2014 Jun;58(12):1700-6.
8. Egbert PR, Pollard RB, Gallagher JG, Merigan TC. Cytomegalovirus retinitis in immunosuppressed hosts. II. Ocular manifestations. Ann Intern Med. 1980 Nov; 93(5):664-70.
9. Weleber R. Retinitis Pigmentosa and allied disorders. In: Ryan S, editor. Retina. 2nd ed. St. Louis: MO, Mosby; 1994. pp. 335–466.
10. Sutter EE, Tran D. The field topography of ERG components in man, I: The photopic luminance response. Vision Res. 1992;32:433–46.