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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Ilan Dock, B.S.;Jyostna Chouturi, M.B.B.S [2]

Overview

Retinitis may be caused by multiple infectious agents including cytomegalovirus, toxoplasmosis, tuberculosis, syphilis, and candida. Retinitis Pigmentosa is classified as a genetically predisposed eye disease which occurs as a result of an inherited genetic defect. [1]

Causes of Retinitis

Genetic

Retinitis Pigmentosa

Retinitis Pigmentosa Genetics

  • Retinitis pigmentosa (RP) is one of the most common forms of inherited retinal degeneration.[3]

Defects in the Rhodopsin Gene

Autosomal Recessive Inheritance Patterns

  • Autosomal recessive inheritance patterns of RP have been identified in at least 45 genes.[5]
  • This means that two unaffected individuals who are carriers of the same RP-inducing gene mutation, in a diallelic form, can produce offspring with the RP phenotype.
  • A mutation on the USH2A gene is known to cause 10-15% of a form of RP known as Usher's Syndrome, when inherited in an autosomal recessive fashion.[13]
  • Mutations in four pre-mRNA splicing factors are known to cause autosomal dominant retinitis pigmentosa.
  • These are PRPF3 (human PRPF3 is HPRPF3; also PRP3), PRPF8, PRPF31 and PAP1.
  • The above factors are ubiquitously expressed.
  • Defects in a ubiquitous factor (a protein expressed everywhere) usually cause disease in the retina due to the retinal photoreceptor cells far greater requirement for protein processing (rhodopsin) than any other cell type.[14]
  • The somatic, or X-linked inheritance patterns of RP are currently identified with the mutations of six genes, the most common occurring at specific loci in the RPGR and RP2 genes.[13]

Retinitis Pigmentosa Genetic Defects

  • Genetic defects and their associated retinitis pigmentosa subtypes are listed in the table below:
OMIM Gene Type
180100 RP1 Retinitis pigmentosa-1
312600 RP2 Retinitis pigmentosa-2
300029 RPGR Retinitis pigmentosa-3
608133 PRPH2 Retinitis pigmentosa-7
180104 RP9 Retinitis pigmentosa-9
180105 IMPDH1 Retinitis pigmentosa-10
600138 PRPF31 Retinitis pigmentosa-11
600105 CRB1 Retinitis pigmentosa-12, autosomal recessive
600059 PRPF8 Retinitis pigmentosa-13
600132 TULP1 Retinitis pigmentosa-14
600852 CA4 Retinitis pigmentosa-17
601414 HPRPF3 Retinitis pigmentosa-18
601718 ABCA4 Retinitis pigmentosa-19
602772 EYS Retinitis pigmentosa-25
608380 CERKL Retinitis pigmentosa-26
607921 FSCN2 Retinitis pigmentosa-30
609923 TOPORS Retinitis pigmentosa-31
610359 SNRNP200 Retinitis pigmentosa 33
610282 SEMA4A Retinitis pigmentosa-35
610599 PRCD Retinitis pigmentosa-36
611131 NR2E3 Retinitis pigmentosa-37
268000 MERTK Retinitis pigmentosa-38
268000 USH2A Retinitis pigmentosa-39
612095 PROM1 Retinitis pigmentosa-41
612943 KLHL7 Retinitis pigmentosa-42
268000 CNGB1 Retinitis pigmentosa-45
613194 BEST1 Retinitis pigmentosa-50
613464 TTC8 Retinitis pigmentosa 51
613428 C2orf71 Retinitis pigmentosa 54
613575 ARL6 Retinitis pigmentosa 55
613617 ZNF513 Retinitis pigmentosa 58
613861 DHDDS Retinitis pigmentosa 59
613194 BEST1 Retinitis pigmentosa, concentric
608133 PRPH2 Retinitis pigmentosa, digenic
613341 LRAT Retinitis pigmentosa, juvenile
268000 SPATA7 Retinitis pigmentosa, juvenile, autosomal recessive
268000 CRX Retinitis pigmentosa, late-onset dominant
300455 RPGR Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness

Infectious Agents

Cytomegalovirus Retinitis

  • Cytomegalovirus retinitis is a result of a viral, herpes infection of the retina.
  • Highly prevalent as a cause of blindness within the AIDS infected population.[15]

Syphilis

  • Retinitis resulting from a syphilitic infection is commonly referred to as a ocular syphilis.
  • The infection persists as syphilitic spirochetes, Treponema pallidum, invade or cause allergic reactions within the surrounding tissue.[15]

Fungal Infections

  • Two types of retina infections may occur depending on the mode of fungal infection. These two types our outlined as endogenous or exogenous.
  • Endogenous fungal retinitis is primarily a result of a disseminated fungal infection.
  • Exogenous fungal infections primarily occur as a result of a recent event such as physical injury or surgery.
  • Exogenous fungal infections are usually a result of Candidal retinitis. An infection commonly associated with candida chorioretinitis.
  • Candidas chorioretinitis is typically caused by the species Candida albicans.[15]

Tuberculosis

  • Extrapulmonary clinical manifestations of tuberculosis include intraocular, caseating granulomas.
  • Infection of the retina is associated with the spread of the tuberculosis causing bacterial agents.
  • Common presentation of tuberculosis in the retina appears as multiple choroidal tubercles.
  • These tubercles are best defined as minor nodules with a grayish appearance.[15]

Toxoplasmosis

  • Toxoplasma gondii is a parasitic agent found in contaminated meat and egg products.
  • Persistence occurs within the vacuoles of cells found within tissues throughout the host.
  • Rupturing of tissue cysts within host cells may lead to the progression of the disease, ultimately resulting in retinitis. This occurrence is mostly common within individuals who were previously immuno-compromised.[15]

References

  1. 1.0 1.1 Retinitis Pigmentosa. U.S. National Library of Medicine. https://www.genome.gov/13514348
  2. 2.0 2.1 2.2 Retinitis Pigmentosa. U.S. National Library of Medicine. https://www.nlm.nih.gov/medlineplus/ency/article/001029.htm
  3. 3.0 3.1 Hartong, Dyonne T; Berson, Eliot L; Dryja, Thaddeus P (2006). "Retinitis pigmentosa". The Lancet. 368 (9549): 1795–1809. doi:10.1016/S0140-6736(06)69740-7. 
  4. Online 'Mendelian Inheritance in Man' (OMIM) RETINITIS PIGMENTOSA; RP -268000
  5. 5.0 5.1 Rivolta, C.; Sharon, D; Deangelis, M. M.; Dryja, T. P. (2002). "Retinitis pigmentosa and allied diseases: Numerous diseases, genes, and inheritance patterns". Human Molecular Genetics. 11 (10): 1219–27. PMID 12015282. doi:10.1093/hmg/11.10.1219. 
  6. 6.0 6.1 Berson, Eliot L.; Rosner, B; Sandberg, M. A.; Dryja, T. P. (1991). "Ocular Findings in Patients with Autosomal Dominant Retinitis Pigmentosa and a Rhodopsin Gene Defect (Pro-23-His)". Archives of Ophthalmology. 109 (1): 92–101. PMID 1987956. doi:10.1001/archopht.1991.01080010094039. 
  7. Senin, Ivan I.; Bosch, Laia; Ramon, Eva; Zernii, Evgeni Yu.; Manyosa, Joan; Philippov, Pavel P.; Garriga, Pere (2006). "Ca2+/recoverin dependent regulation of phosphorylation of the rhodopsin mutant R135L associated with retinitis pigmentosa". Biochemical and Biophysical Research Communications. 349 (1): 345–52. PMID 16934219. doi:10.1016/j.bbrc.2006.08.048. 
  8. Dryja, Thaddeus P.; McGee, Terri L.; Reichel, Elias; Hahn, Lauri B.; Cowley, Glenn S.; Yandell, David W.; Sandberg, Michael A.; Berson, Eliot L. (1990). "A point mutation of the rhodopsin gene in one form of retinitis pigmentosa". Nature. 343 (6256): 364–6. Bibcode:1990Natur.343..364D. PMID 2137202. doi:10.1038/343364a0. 
  9. Dryja, Thaddeus P.; McGee, Terri L.; Hahn, Lauri B.; Cowley, Glenn S.; Olsson, Jane E.; Reichel, Elias; Sandberg, Michael A.; Berson, Eliot L. (1990). "Mutations within the Rhodopsin Gene in Patients with Autosomal Dominant Retinitis Pigmentosa". New England Journal of Medicine. 323 (19): 1302–7. PMID 2215617. doi:10.1056/NEJM199011083231903. 
  10. Berson, E. L.; Rosner, B; Sandberg, M. A.; Weigel-Difranco, C; Dryja, T. P. (1991). "Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine". American journal of ophthalmology. 111 (5): 614–23. PMID 2021172. doi:10.1016/s0002-9394(14)73708-0. 
  11. Inglehearn, C. F.; Bashir, R; Lester, D. H.; Jay, M; Bird, A. C.; Bhattacharya, S. S. (1991). "A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa". American Journal of Human Genetics. 48 (1): 26–30. PMC 1682750Freely accessible. PMID 1985460. 
  12. Oh, Kean T.; Weleber, R. G.; Lotery, A; Oh, D. M.; Billingslea, A. M.; Stone, E. M. (2000). "Description of a New Mutation in Rhodopsin, Pro23Ala, and Comparison with Electroretinographic and Clinical Characteristics of the Pro23His Mutation". Archives of Ophthalmology. 118 (9): 1269–76. PMID 10980774. doi:10.1001/archopht.118.9.1269. 
  13. 13.0 13.1 http://ghr.nlm.nih.gov/condition/retinitis-pigmentosaTemplate:Full
  14. Bujakowska, K.; Maubaret, C.; Chakarova, C. F.; Tanimoto, N.; Beck, S. C.; Fahl, E.; Humphries, M. M.; Kenna, P. F.; Makarov, E.; Makarova, O.; Paquet-Durand, F.; Ekstrom, P. A.; Van Veen, T.; Leveillard, T.; Humphries, P.; Seeliger, M. W.; Bhattacharya, S. S. (2009). "Study of Gene-Targeted Mouse Models of Splicing Factor Gene Prpf31 Implicated in Human Autosomal Dominant Retinitis Pigmentosa (RP)". Investigative Ophthalmology & Visual Science. 50 (12): 5927–5933. PMID 19578015. doi:10.1167/iovs.08-3275. 
  15. 15.0 15.1 15.2 15.3 15.4 Infectious Retinitis: A Review. YACHNA AHUJA, MD · STEVEN M. COUCH, MD · RAYMUND R. RAZONABLE, MD · SOPHIE J. BAKRI, MD. http://www.retinalphysician.com/articleviewer.aspx?articleID=102293. Accessed April 13, 2016.



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