U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Chorioretinal degeneration

MedGen UID:
99273
Concept ID:
C0521683
Pathologic Function
SNOMED CT: Chorioretinal degeneration (247177004)
 
HPO: HP:0200065

Conditions with this feature

Choroideremia
MedGen UID:
944
Concept ID:
C0008525
Disease or Syndrome
Choroideremia (CHM) is characterized by progressive chorioretinal degeneration in affected males and milder signs in heterozygous (carrier) females. Typically, symptoms in affected males evolve from night blindness to peripheral visual field loss, with central vision preserved until late in life. Although carrier females are generally asymptomatic, signs of chorioretinal degeneration can be reliably observed with fundus autofluorescence imaging, and – after age 25 years – with careful fundus examination.
Retinitis pigmentosa 6
MedGen UID:
333305
Concept ID:
C1839368
Disease or Syndrome
A retinitis pigmentosa that has material basis in variation in the chromosome region Xp21.3-p21.2.
Ophthalmoplegia, external, and myopia
MedGen UID:
326916
Concept ID:
C1839577
Disease or Syndrome
Late-onset retinal degeneration
MedGen UID:
344198
Concept ID:
C1854065
Disease or Syndrome
Late-onset retinal degeneration (LORD) is an autosomal dominant disorder characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits in the retinal fundus, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy (Hayward et al., 2003).
Retinitis pigmentosa 2
MedGen UID:
394544
Concept ID:
C2681923
Disease or Syndrome
Retinitis pigmentosa is characterized by constriction of the visual fields, night blindness, and fundus changes, including 'bone corpuscle' lumps of pigment. RP unassociated with other abnormalities is inherited most frequently (84%) as an autosomal recessive, next as an autosomal dominant (10%), and least frequently (6%) as an X-linked recessive in the white U.S. population (Boughman et al., 1980). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
Choroideremia-deafness-obesity syndrome
MedGen UID:
763933
Concept ID:
C3551019
Disease or Syndrome
An X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state.
Microcornea-myopic chorioretinal atrophy
MedGen UID:
815897
Concept ID:
C3809567
Disease or Syndrome
Microcornea-myopic chorioretinal atrophy-telecanthus syndrome is rare, genetic, developmental defect of the eye disease characterized by childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy, typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ecotpia pupilae and retinal detachment.
Intellectual disability, autosomal dominant 33
MedGen UID:
899389
Concept ID:
C4225375
Mental or Behavioral Dysfunction
Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DPP6 gene.

Professional guidelines

PubMed

Schepens CL
Ophthalmic Surg 1994 Jul;25(7):427-31. PMID: 7970511

Recent clinical studies

Etiology

Lisbjerg K, Andersen MKG, Bertelsen M, Brost AG, Buchvald FF, Jensen RB, Bisgaard AM, Rosenberg T, Tümer Z, Kessel L
Ophthalmic Genet 2021 Aug;42(4):464-473. Epub 2021 Apr 5 doi: 10.1080/13816810.2021.1904419. PMID: 33818269
Haug SJ, Wong RW, Day S, Choudhry N, Sneed S, Prasad P, Read S, McDonald RH, Agarwal A, Davis J, Sarraf D
Retina 2016 Dec;36 Suppl 1:S159-S167. doi: 10.1097/IAE.0000000000001267. PMID: 28005674
Rong SS, Chen LJ, Pang CP
Asia Pac J Ophthalmol (Phila) 2016 Jul-Aug;5(4):236-44. doi: 10.1097/APO.0000000000000224. PMID: 27488065
Atchaneeyasakul LO, Linck L, Weleber RG
Ophthalmic Genet 1998 Mar;19(1):39-48. doi: 10.1076/opge.19.1.39.2178. PMID: 9587928
Kennedy RH
Trans Am Ophthalmol Soc 1995;93:755-800. PMID: 8719698Free PMC Article

Diagnosis

Manangeeswaran M, Kielczewski JL, Sen HN, Xu BC, Ireland DDC, McWilliams IL, Chan CC, Caspi RR, Verthelyi D
Emerg Microbes Infect 2018 May 25;7(1):96. doi: 10.1038/s41426-018-0096-z. PMID: 29802245Free PMC Article
Khan AO
Curr Opin Ophthalmol 2013 Sep;24(5):369-78. doi: 10.1097/ICU.0b013e3283638374. PMID: 23846189
MacDonald IM, Sereda C, McTaggart K, Mah D
Expert Rev Mol Diagn 2004 Jul;4(4):478-84. doi: 10.1586/14737159.4.4.478. PMID: 15225095
Atchaneeyasakul LO, Linck L, Weleber RG
Ophthalmic Genet 1998 Mar;19(1):39-48. doi: 10.1076/opge.19.1.39.2178. PMID: 9587928
François J
Birth Defects Orig Artic Ser 1971 Mar;7(3):99-116. PMID: 4950918

Therapy

Haug SJ, Wong RW, Day S, Choudhry N, Sneed S, Prasad P, Read S, McDonald RH, Agarwal A, Davis J, Sarraf D
Retina 2016 Dec;36 Suppl 1:S159-S167. doi: 10.1097/IAE.0000000000001267. PMID: 28005674
Triantafylla M, Panos GD, Dardabounis D, Nanos P, Konstantinidis A
Eur J Ophthalmol 2016 Feb 15;26(2):e30-1. doi: 10.5301/ejo.5000695. PMID: 26541114
Song YY, Wang H, Wang BS, Qi H, Rong ZX, Chen HZ
J Ocul Pharmacol Ther 2011 Aug;27(4):361-8. Epub 2011 Jun 7 doi: 10.1089/jop.2011.0017. PMID: 21649523
Chee SP, Jap A, Bacsal K
Am J Ophthalmol 2009 Jan;147(1):154-161.e1. Epub 2008 Oct 2 doi: 10.1016/j.ajo.2008.07.044. PMID: 18834575
Kennedy RH
Trans Am Ophthalmol Soc 1995;93:755-800. PMID: 8719698Free PMC Article

Prognosis

Lisbjerg K, Andersen MKG, Bertelsen M, Brost AG, Buchvald FF, Jensen RB, Bisgaard AM, Rosenberg T, Tümer Z, Kessel L
Ophthalmic Genet 2021 Aug;42(4):464-473. Epub 2021 Apr 5 doi: 10.1080/13816810.2021.1904419. PMID: 33818269
Al-Qahtani AA, Ba-Ali S, Alabduljalil T, Coyner AS, Patel RC, Weleber RG, Girach A, Christensen SK, Larsen M, Pennesi ME, Yang P
Retina 2018 Sep;38(9):1725-1730. doi: 10.1097/IAE.0000000000001957. PMID: 29160785Free PMC Article
Ikesugi K, Ichio T, Tsukitome H, Kondo M
Jpn J Ophthalmol 2017 Jul;61(4):293-298. Epub 2017 Apr 26 doi: 10.1007/s10384-017-0517-x. PMID: 28447270
Eysteinsson T, Jónasson F, Jónsson V, Bird AC
Br J Ophthalmol 1998 Mar;82(3):280-5. doi: 10.1136/bjo.82.3.280. PMID: 9602625Free PMC Article
Kennedy RH
Trans Am Ophthalmol Soc 1995;93:755-800. PMID: 8719698Free PMC Article

Clinical prediction guides

Sen S, Kannan SK, Shanmugam U, Rajan R, Babu N, Vanniarajan A
Ophthalmic Genet 2021 Jun;42(3):300-303. Epub 2021 Jan 19 doi: 10.1080/13816810.2020.1870149. PMID: 33463379
Harvey CM, Whitmore SS, Critser DB, Affatigato LM, Daggett HT, Stone EM, Han IC
Eye (Lond) 2020 Apr;34(4):746-754. Epub 2019 Sep 25 doi: 10.1038/s41433-019-0599-4. PMID: 31554944Free PMC Article
Al-Qahtani AA, Ba-Ali S, Alabduljalil T, Coyner AS, Patel RC, Weleber RG, Girach A, Christensen SK, Larsen M, Pennesi ME, Yang P
Retina 2018 Sep;38(9):1725-1730. doi: 10.1097/IAE.0000000000001957. PMID: 29160785Free PMC Article
Haug SJ, Wong RW, Day S, Choudhry N, Sneed S, Prasad P, Read S, McDonald RH, Agarwal A, Davis J, Sarraf D
Retina 2016 Dec;36 Suppl 1:S159-S167. doi: 10.1097/IAE.0000000000001267. PMID: 28005674
Neelam K, Chew RY, Kwan MH, Yip CC, Au Eong KG
Int Ophthalmol 2012 Jun;32(3):203-9. Epub 2012 Apr 6 doi: 10.1007/s10792-012-9542-4. PMID: 22481598

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...