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Abnormal retinal vascular morphology

MedGen UID:
Concept ID:
Anatomical Abnormality
Synonyms: Abnormality of retina blood vessels; Abnormality of the retinal vasculature
HPO: HP:0008046


A structural abnormality of retinal vasculature. [from HPO]

Conditions with this feature

Bartter disease type 3
MedGen UID:
Concept ID:
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).
Ethylmalonic encephalopathy
MedGen UID:
Concept ID:
Disease or Syndrome
Ethylmalonic encephalopathy (EE) is a severe, early-onset, progressive disorder characterized by developmental delay / mild-to-severe intellectual disability; generalized infantile hypotonia that evolves into hypertonia, spasticity, and (in some instances) dystonia; generalized tonic-clonic seizures; and generalized microvascular damage (diffuse and spontaneous relapsing petechial purpura, hemorrhagic suffusions of mucosal surfaces, and chronic hemorrhagic diarrhea). Infants sometimes have frequent vomiting and loss of social interaction. Speech is delayed and in some instances absent. Swallowing difficulties and failure to thrive are common. Children may be unable to walk without support and may be wheelchair bound. Neurologic deterioration accelerates following intercurrent infectious illness, and the majority of children die in the first decade.

Professional guidelines


Wiley HE, Krivosic V, Gaudric A, Gorin MB, Shields C, Shields J, Aronow ME, Chew EY
Retina 2019 Dec;39(12):2254-2263. doi: 10.1097/IAE.0000000000002572. PMID: 31259811Free PMC Article
Yang X, Wang C, Su G
Int Ophthalmol 2019 Apr;39(4):957-970. Epub 2019 Mar 20 doi: 10.1007/s10792-019-01095-8. PMID: 30895419
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


Hellström A, Dahlgren J, Marsál K, Ley D
Pediatrics 2004 Feb;113(2):e77-80. doi: 10.1542/peds.113.2.e77. PMID: 14754975

Clinical prediction guides

Porter LF, Galli GG, Williamson S, Selley J, Knight D, Elcioglu N, Aydin A, Elcioglu M, Venselaar H, Lund AH, Bonshek R, Black GC, Manson FD
Hum Mol Genet 2015 Dec 1;24(23):6565-79. Epub 2015 Sep 22 doi: 10.1093/hmg/ddv345. PMID: 26395458Free PMC Article

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