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Abnormal choroid morphology

MedGen UID:
892839
Concept ID:
C4025836
Anatomical Abnormality
Synonym: Abnormality of the choroid
 
HPO: HP:0000610
Monarch Initiative: MONDO:0001898

Definition

Any structural abnormality of the choroid. [from HPO]

Conditions with this feature

Bartter disease type 3
MedGen UID:
335399
Concept ID:
C1846343
Disease or Syndrome
Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997). Patients with antenatal (or neonatal) forms of Bartter syndrome (e.g., BARTS1, 601678) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012). Genetic Heterogeneity of Bartter Syndrome Antenatal Bartter syndrome type 1 (601678) is caused by loss-of-function mutations in the butmetanide-sensitive Na-K-2Cl cotransporter NKCC2 (SLC12A1; 600839). Antenatal Bartter syndrome type 2 (241200) is caused by loss-of-function mutations in the ATP-sensitive potassium channel ROMK (KCNJ1; 600359). One form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4A (602522), is caused by mutation in the BSND gene (606412). Another form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4B (613090), is caused by simultaneous mutation in both the CLCNKA (602024) and CLCNKB (602023) genes. Also see autosomal dominant hypocalcemia-1 with Bartter syndrome (601198), which is sometimes referred to as Bartter syndrome type 5 (Fremont and Chan, 2012), caused by mutation in the CASR gene (601199). See Gitelman syndrome (GTLMN; 263800), which is often referred to as a mild variant of Bartter syndrome, caused by mutation in the thiazide-sensitive sodium-chloride cotransporter SLC12A3 (600968).

Professional guidelines

PubMed

Society for Maternal-Fetal Medicine (SMFM). Electronic address: pubs@smfm.org, Prabhu M, Kuller JA, Biggio JR
Am J Obstet Gynecol 2021 Oct;225(4):B2-B15. Epub 2021 Jun 23 doi: 10.1016/j.ajog.2021.06.079. PMID: 34171388
Ho CPS, Lai TYY
Indian J Ophthalmol 2018 Dec;66(12):1727-1735. doi: 10.4103/ijo.IJO_975_18. PMID: 30451173Free PMC Article
Anantharaman G, Sheth J, Bhende M, Narayanan R, Natarajan S, Rajendran A, Manayath G, Sen P, Biswas R, Banker A, Gupta C
Indian J Ophthalmol 2018 Jul;66(7):896-908. doi: 10.4103/ijo.IJO_1136_17. PMID: 29941728Free PMC Article

Recent clinical studies

Etiology

Safi H, Ahmadieh H, Hassanpour K, Safi S
Surv Ophthalmol 2022 Mar-Apr;67(2):579-590. Epub 2021 Jul 29 doi: 10.1016/j.survophthal.2021.07.004. PMID: 34331955
Arora S, Surakiatchanukul T, Arora T, Cagini C, Lupidi M, Chhablani J
Surv Ophthalmol 2022 Mar-Apr;67(2):463-487. Epub 2021 Jun 25 doi: 10.1016/j.survophthal.2021.06.004. PMID: 34175342
Society for Maternal-Fetal Medicine (SMFM). Electronic address: pubs@smfm.org, Prabhu M, Kuller JA, Biggio JR
Am J Obstet Gynecol 2021 Oct;225(4):B2-B15. Epub 2021 Jun 23 doi: 10.1016/j.ajog.2021.06.079. PMID: 34171388
Ebrahimiadib N, Maleki A, Fadakar K, Manhapra A, Ghassemi F, Foster CS
Surv Ophthalmol 2021 Jul-Aug;66(4):653-667. Epub 2021 Jan 5 doi: 10.1016/j.survophthal.2020.12.006. PMID: 33412171
Akkaya S
Int Ophthalmol 2018 Oct;38(5):2239-2246. Epub 2017 Aug 1 doi: 10.1007/s10792-017-0666-4. PMID: 28766279

Diagnosis

Wakabayashi T, Yonekawa Y, Ohno-Matsui K, Cohen SY, Rowland C, Pulido JS
Retin Cases Brief Rep 2024 Jan 1;18(1):11-14. doi: 10.1097/ICB.0000000000001308. PMID: 36007179
Ebrahimiadib N, Maleki A, Fadakar K, Manhapra A, Ghassemi F, Foster CS
Surv Ophthalmol 2021 Jul-Aug;66(4):653-667. Epub 2021 Jan 5 doi: 10.1016/j.survophthal.2020.12.006. PMID: 33412171
Cheung CMG, Lee WK, Koizumi H, Dansingani K, Lai TYY, Freund KB
Eye (Lond) 2019 Jan;33(1):14-33. Epub 2018 Jul 11 doi: 10.1038/s41433-018-0158-4. PMID: 29995841Free PMC Article
Pichi F, Aggarwal K, Neri P, Salvetti P, Lembo A, Nucci P, Gemmy Cheung CM, Gupta V
Indian J Ophthalmol 2018 Dec;66(12):1716-1726. doi: 10.4103/ijo.IJO_893_18. PMID: 30451172Free PMC Article
Akkaya S
Int Ophthalmol 2018 Oct;38(5):2239-2246. Epub 2017 Aug 1 doi: 10.1007/s10792-017-0666-4. PMID: 28766279

Therapy

Mullin NK, Voigt AP, Flamme-Wiese MJ, Liu X, Riker MJ, Varzavand K, Stone EM, Tucker BA, Mullins RF
JCI Insight 2023 Jul 24;8(14) doi: 10.1172/jci.insight.165937. PMID: 37289546Free PMC Article
Arora S, Surakiatchanukul T, Arora T, Cagini C, Lupidi M, Chhablani J
Surv Ophthalmol 2022 Mar-Apr;67(2):463-487. Epub 2021 Jun 25 doi: 10.1016/j.survophthal.2021.06.004. PMID: 34175342
Ho CPS, Lai TYY
Indian J Ophthalmol 2018 Dec;66(12):1727-1735. doi: 10.4103/ijo.IJO_975_18. PMID: 30451173Free PMC Article
Wan M, Duan L
Br J Neurosurg 2015 Apr;29(2):189-91. Epub 2014 Nov 3 doi: 10.3109/02688697.2014.976177. PMID: 25365664
Nowak JZ
Pharmacol Rep 2006 May-Jun;58(3):353-63. PMID: 16845209

Prognosis

Nichani P, Micieli JA
Ophthalmol Retina 2021 May;5(5):429-437. Epub 2020 Aug 26 doi: 10.1016/j.oret.2020.08.016. PMID: 32860958
Wang FB
Strabismus 2020 Mar;28(1):17-19. Epub 2019 Sep 30 doi: 10.1080/09273972.2019.1668028. PMID: 31566469
Wan M, Duan L
Br J Neurosurg 2015 Apr;29(2):189-91. Epub 2014 Nov 3 doi: 10.3109/02688697.2014.976177. PMID: 25365664
Laver NV, McLaughlin ME, Duker JS
Arch Pathol Lab Med 2010 Dec;134(12):1778-84. doi: 10.5858/2009-0441-RAR.1. PMID: 21128775
Pagon RA
Surv Ophthalmol 1981 Jan-Feb;25(4):223-36. doi: 10.1016/0039-6257(81)90092-8. PMID: 6782689

Clinical prediction guides

Catapano JS, Rumalla K, Srinivasan VM, Benner D, Winkler EA, Lawrence PM, Larson Keil K, Lawton MT
J Neurosurg 2023 Dec 1;139(6):1681-1696. Epub 2023 May 19 doi: 10.3171/2023.3.JNS23234. PMID: 37209072
Safi H, Ahmadieh H, Hassanpour K, Safi S
Surv Ophthalmol 2022 Mar-Apr;67(2):579-590. Epub 2021 Jul 29 doi: 10.1016/j.survophthal.2021.07.004. PMID: 34331955
Arora S, Surakiatchanukul T, Arora T, Cagini C, Lupidi M, Chhablani J
Surv Ophthalmol 2022 Mar-Apr;67(2):463-487. Epub 2021 Jun 25 doi: 10.1016/j.survophthal.2021.06.004. PMID: 34175342
Pang CE, Freund KB
Retina 2015 Jan;35(1):1-9. doi: 10.1097/IAE.0000000000000331. PMID: 25158945
Sergott RC
J Neuroophthalmol 2014 Sep;34 Suppl:S24-8. doi: 10.1097/WNO.0000000000000164. PMID: 25133967

Recent systematic reviews

Stanishevskiy A, Gavrilov G, Svistov D, Cherebillo V, Kurnukhina M
Neurosurg Rev 2023 Oct 6;46(1):264. doi: 10.1007/s10143-023-02176-0. PMID: 37801091
Yu J, Xu N, Zhao Y, Yu J
Int J Med Sci 2018;15(4):368-375. Epub 2018 Feb 12 doi: 10.7150/ijms.22631. PMID: 29511372Free PMC Article
Akkaya S
Int Ophthalmol 2018 Oct;38(5):2239-2246. Epub 2017 Aug 1 doi: 10.1007/s10792-017-0666-4. PMID: 28766279
Zhang Z, Yu M, Wang F, Dai Y, Wu Z
J Glaucoma 2016 May;25(5):e446-54. doi: 10.1097/IJG.0000000000000275. PMID: 25943737
Borooah S, Collins C, Wright A, Dhillon B
Br J Ophthalmol 2009 Mar;93(3):284-9. Epub 2008 Dec 19 doi: 10.1136/bjo.2008.150151. PMID: 19098033

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