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Chorioretinitis

MedGen UID:
942
Concept ID:
C0008513
Disease or Syndrome
Synonym: Chorioretinitis (disease)
SNOMED CT: Chorioretinal inflammation (46627006); Choroiditis and retinitis (46627006); Retinochoroiditis (46627006); Chorioretinitis (46627006)
 
HPO: HP:0012424
Monarch Initiative: MONDO:0004674

Definition

An inflammation of the choroid and retina. [from HPO]

Term Hierarchy

Conditions with this feature

Behcet disease
MedGen UID:
2568
Concept ID:
C0004943
Disease or Syndrome
Behçet disease is an inflammatory condition that affects many parts of the body. The health problems associated with Behçet disease result from widespread inflammation of blood vessels (vasculitis). This inflammation most commonly affects small blood vessels in the mouth, genitals, skin, and eyes.\n\nPainful mouth sores called aphthous ulcers are usually the first sign of Behçet disease. These sores can occur on the lips, tongue, inside the cheeks, the roof of the mouth, the throat, and the tonsils. The ulcers look like common canker sores, and they typically heal within one to two weeks. About 75 percent of all people with Behçet disease develop similar ulcers on the genitals. These ulcers occur most frequently on the scrotum in men and on the labia in women.\n\nBehçet disease can also cause painful bumps and sores on the skin. Most affected individuals develop pus-filled bumps that resemble acne. These bumps can occur anywhere on the body. Some affected people also have red, tender nodules called erythema nodosum. These nodules usually develop on the legs but can also occur on the arms, face, and neck.\n\nAn inflammation of the eye called uveitis is found in more than half of people with Behçet disease. Eye problems are more common in younger people with the disease and affect men more often than women. Uveitis can result in blurry vision and an extreme sensitivity to light (photophobia). Rarely, inflammation can also cause eye pain and redness. If untreated, the eye problems associated with Behçet disease can lead to blindness.\n\nJoint involvement is also common in Behçet disease. Often this affects one joint at a time, with each affected joint becoming swollen and painful and then getting better.\n\nLess commonly, Behçet disease can affect the brain and spinal cord (central nervous system), gastrointestinal tract, large blood vessels, heart, lungs, and kidneys. Central nervous system abnormalities can lead to headaches, confusion, personality changes, memory loss, impaired speech, and problems with balance and movement. Involvement of the gastrointestinal tract can lead to a hole in the wall of the intestine (intestinal perforation), which can cause serious infection and may be life-threatening.\n\nThe signs and symptoms of Behçet disease usually begin in a person's twenties or thirties, although they can appear at any age. Some affected people have relatively mild symptoms that are limited to sores in the mouth and on the genitals. Others have more severe symptoms affecting various parts of the body, including the eyes and the vital organs. The features of Behçet disease typically come and go over a period of months or years. In most affected individuals, the health problems associated with this disorder improve with age.
Sarcoidosis, susceptibility to, 1
MedGen UID:
394568
Concept ID:
C2697310
Finding
Any sarcoidosis in which the cause of the disease is a mutation in the HLA-DRB1 gene.
Autoinflammatory disease, X-linked
MedGen UID:
1811268
Concept ID:
C5676885
Disease or Syndrome
X-linked systemic autoinflammatory disease (SAIDX) is characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional manifestations may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy. Laboratory studies show hypogammaglobulinemia, increased or decreased white blood cell count, autoimmune cytopenias, elevated serum inflammatory markers, and a type I interferon signature (de Jesus et al., 2020 and Lee et al., 2022).

Professional guidelines

PubMed

Standardization of Uveitis Nomenclature (SUN) Working Group
Am J Ophthalmol 2021 Aug;228:65-71. Epub 2021 Apr 15 doi: 10.1016/j.ajo.2021.03.059. PMID: 33845003Free PMC Article
Ammar MJ, Carroll R, Kolomeyer A, Ying GS, Whitehead G, Brucker AJ, Kim BJ
Retina 2021 Feb 1;41(2):431-437. doi: 10.1097/IAE.0000000000002861. PMID: 32516224
Testi I, Mahajan S, Agrawal R, Agarwal A, Marchese A, Curi A, Khairallah M, Leo YS, Nguyen QD, Gupta V
Ocul Immunol Inflamm 2020 Oct 2;28(7):1099-1108. Epub 2020 Mar 12 doi: 10.1080/09273948.2020.1727533. PMID: 32162992

Recent clinical studies

Etiology

Tsan GL, Claiborne RT
Clin Exp Optom 2021 Sep;104(7):756-759. Epub 2021 Apr 8 doi: 10.1080/08164622.2021.1906848. PMID: 33831337
Beder D, Esenkaya Taşbent F
Turkiye Parazitol Derg 2020 Jun 2;44(2):94-101. doi: 10.4274/tpd.galenos.2020.6634. PMID: 32482042
Garg RK, Mahadevan A, Malhotra HS, Rizvi I, Kumar N, Uniyal R
Rev Med Virol 2019 Sep;29(5):e2058. Epub 2019 Jun 24 doi: 10.1002/rmv.2058. PMID: 31237061
Ng AW, Teoh SC
Surv Ophthalmol 2015 Mar-Apr;60(2):106-14. Epub 2014 Aug 12 doi: 10.1016/j.survophthal.2014.07.003. PMID: 25223497
Kieffer F, Wallon M
Handb Clin Neurol 2013;112:1099-101. doi: 10.1016/B978-0-444-52910-7.00028-3. PMID: 23622316

Diagnosis

Nordstrom B, Sherpa N, Marshall M, Chawla A, Heidari A, Johnson R
J Investig Med High Impact Case Rep 2019 Jan-Dec;7:2324709619881561. doi: 10.1177/2324709619881561. PMID: 31597500Free PMC Article
Cunningham ET, Levinson RD, Denniston AK, Brézin AP, Zierhut M
Ocul Immunol Inflamm 2017 Oct;25(5):589-593. doi: 10.1080/09273948.2017.1400800. PMID: 29144845
Shao EH, Menezo V, Taylor SR
Curr Opin Ophthalmol 2014 Nov;25(6):488-94. doi: 10.1097/ICU.0000000000000101. PMID: 25211040
Wakefield D, Cunningham ET Jr, Pavesio C, Garweg JG, Zierhut M
Ocul Immunol Inflamm 2011 Feb;19(1):2-9. doi: 10.3109/09273948.2011.547157. PMID: 21250922
JARVIS GJ, MCCULLOCH C
Can Med Assoc J 1963 Dec 21;89(25):1270-3. PMID: 14098891Free PMC Article

Therapy

Wons J, Kempen J, Garweg JG
Ocul Immunol Inflamm 2020 Nov 16;28(8):1259-1268. Epub 2020 Sep 23 doi: 10.1080/09273948.2020.1808225. PMID: 32966142
Mehta S, Peters RP, Smit DP, Gupta V
Ocul Immunol Inflamm 2020 Nov 16;28(8):1251-1258. Epub 2020 Aug 18 doi: 10.1080/09273948.2020.1776882. PMID: 32809898
Garg RK, Mahadevan A, Malhotra HS, Rizvi I, Kumar N, Uniyal R
Rev Med Virol 2019 Sep;29(5):e2058. Epub 2019 Jun 24 doi: 10.1002/rmv.2058. PMID: 31237061
Cunningham ET, Levinson RD, Denniston AK, Brézin AP, Zierhut M
Ocul Immunol Inflamm 2017 Oct;25(5):589-593. doi: 10.1080/09273948.2017.1400800. PMID: 29144845
Ng AW, Teoh SC
Surv Ophthalmol 2015 Mar-Apr;60(2):106-14. Epub 2014 Aug 12 doi: 10.1016/j.survophthal.2014.07.003. PMID: 25223497

Prognosis

Garg RK, Mahadevan A, Malhotra HS, Rizvi I, Kumar N, Uniyal R
Rev Med Virol 2019 Sep;29(5):e2058. Epub 2019 Jun 24 doi: 10.1002/rmv.2058. PMID: 31237061
Ng AW, Teoh SC
Surv Ophthalmol 2015 Mar-Apr;60(2):106-14. Epub 2014 Aug 12 doi: 10.1016/j.survophthal.2014.07.003. PMID: 25223497
Koop A, Ossewaarde A, Rothova A
Acta Ophthalmol 2013 Sep;91(6):492-7. Epub 2012 Aug 3 doi: 10.1111/j.1755-3768.2012.02483.x. PMID: 22863241
Sallam A, Lynn W, McCluskey P, Lightman S
Expert Rev Anti Infect Ther 2006 Aug;4(4):675-85. doi: 10.1586/14787210.4.4.675. PMID: 17009945
Rubinstein E, Lang R
Eur Heart J 1995 Apr;16 Suppl B:84-9. doi: 10.1093/eurheartj/16.suppl_b.84. PMID: 7671932

Clinical prediction guides

Gundeslioglu OO, Haytoglu Z, Esen E, Alabaz D, Cay U, Ozlu F, Kibar F, Cetiner S
Turkiye Parazitol Derg 2024 Mar 5;48(1):8-14. doi: 10.4274/tpd.galenos.2024.74046. PMID: 38449361
de Paula Freitas B, Ventura CV, Maia M, Belfort R Jr
Curr Opin Ophthalmol 2017 Nov;28(6):595-599. doi: 10.1097/ICU.0000000000000420. PMID: 28795959
Yeung IY, Popp NA, Chan CC
Int Ophthalmol Clin 2015 Summer;55(3):111-31. doi: 10.1097/IIO.0000000000000072. PMID: 26035764Free PMC Article
Modrzejewska M, Lachowicz E, Karczewicz D, Zdanowska A
Klin Oczna 2011;113(10-12):352-6. PMID: 22384654
Brézin AP, Monnet D, Cohen JH, Levinson RD
Ocul Immunol Inflamm 2011 Dec;19(6):397-400. doi: 10.3109/09273948.2011.619295. PMID: 22106906

Recent systematic reviews

Phongkhun K, Pothikamjorn T, Srisurapanont K, Manothummetha K, Sanguankeo A, Thongkam A, Chuleerarux N, Leksuwankun S, Meejun T, Thanakitcharu J, Walker M, Gopinath S, Torvorapanit P, Langsiri N, Worasilchai N, Moonla C, Plongla R, Kates OS, Nematollahi S, Permpalung N
Clin Infect Dis 2023 May 24;76(10):1738-1749. doi: 10.1093/cid/ciad064. PMID: 36750934Free PMC Article
Gabrani C, Mitsikas D, Giannakou K, Lamnisos D
J Pediatr Ophthalmol Strabismus 2023 Mar-Apr;60(2):86-94. Epub 2022 May 25 doi: 10.3928/01913913-20220426-01. PMID: 35611826
Turk MA, Hayworth JL, Nevskaya T, Pope JE
J Rheumatol 2021 Jan 1;48(1):25-34. Epub 2020 May 1 doi: 10.3899/jrheum.190768. PMID: 32358156
Ejere HO, Schwartz E, Wormald R, Evans JR
Cochrane Database Syst Rev 2012 Aug 15;2012(8):CD002219. doi: 10.1002/14651858.CD002219.pub2. PMID: 22895928Free PMC Article
Shah CP, McKey J, Spirn MJ, Maguire J
Br J Ophthalmol 2008 Apr;92(4):466-8. doi: 10.1136/bjo.2007.133405. PMID: 18369061

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