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Retinal arterial tortuosity(RATOR)

MedGen UID:
140840
•Concept ID:
C0423401
•
Finding
Synonyms: Retinal arteries, tortuosity of; RETINAL HEMORRHAGE WITH VASCULAR TORTUOSITY
SNOMED CT: Retinal arterial tortuosity (247123003)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Gene (location): COL4A1 (13q34)
 
HPO: HP:0000631
Monarch Initiative: MONDO:0008373
OMIM®: 180000
Orphanet: ORPHA75326

Definition

Familial retinal arterial tortuosity is characterized by marked tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system. Two-thirds of patients experience variable degrees of symptomatic transient vision loss due to retinal hemorrhage following minor stress or trauma (summary by Nischler et al., 2011). [from OMIM]

Clinical features

From HPO
Photophobia
MedGen UID:
43220
•Concept ID:
C0085636
•
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
See: Feature record | Search on this feature
Retinal hemorrhage
MedGen UID:
11210
•Concept ID:
C0035317
•
Pathologic Function
Hemorrhage occurring within the retina.
See: Feature record | Search on this feature
Visual loss
MedGen UID:
784038
•Concept ID:
C3665386
•
Finding
Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).
See: Feature record | Search on this feature
Retinal arteriolar tortuosity
MedGen UID:
1830276
•Concept ID:
C5779554
•
Finding
The presence of an increased number of twists and turns of the retinal arterioles.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRetinal arterial tortuosity

Recent clinical studies

Etiology

Optical Coherence Tomography Angiography of Familial Retinal Arteriolar Tortuosity.
Giocanti-Auregan A, Gaudric A, Buffon F, Mine M, Delahaye-Mazza C, Cohen SY, Erginay A, Chabriat H, Lasserve ET, Krivosic V
Ophthalmic Surg Lasers Imaging Retina 2018 Jun 1;49(6):397-401. doi: 10.3928/23258160-20180601-03. PMID: 29927466
A case of carotid aneurysm in familial retinal arterial tortuosity.
Seo JH, Kim I, Yu HG
Korean J Ophthalmol 2009 Mar;23(1):57-8. Epub 2009 Mar 9 doi: 10.3341/kjo.2009.23.1.57. PMID: 19337483Free PMC Article

Diagnosis

Retinal Arterial Tortuosity in Marfan and Loeys-Dietz Syndromes.
Ghoraba HH, Moshfeghi DM
Ophthalmol Retina 2023 Jun;7(6):554-557. Epub 2023 Mar 11 doi: 10.1016/j.oret.2023.02.014. PMID: 36907330
Retinal arterial tortuosity in Ehlers-Danlos syndromes.
Ghoraba HH, Moshfeghi DM
Eye (Lond) 2023 Jun;37(9):1936-1941. Epub 2022 Oct 14 doi: 10.1038/s41433-022-02278-x. PMID: 36241846Free PMC Article
Ebstein anomaly associated with retinal venular dilatation, migraine, and visual snow syndrome: a case report.
de Jong PTVM, Thee EF, Straver B
BMC Ophthalmol 2022 Feb 14;22(1):75. doi: 10.1186/s12886-022-02288-z. PMID: 35164715Free PMC Article
Retinal Arterial Tortuosity in Moyamoya Disease.
Katsman D, Klufas MA, Sarraf D, Sadda S
JAMA Ophthalmol 2016 Jan;134(1):111-4. doi: 10.1001/jamaophthalmol.2015.4645. PMID: 26605691
Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy.
Vahedi K, Massin P, Guichard JP, Miocque S, Polivka M, Goutières F, Dress D, Chapon F, Ruchoux MM, Riant F, Joutel A, Gaudric A, Bousser MG, Tournier-Lasserve E
Neurology 2003 Jan 14;60(1):57-63. doi: 10.1212/wnl.60.1.57. PMID: 12525718

Prognosis

Optical Coherence Tomography Angiography of Familial Retinal Arteriolar Tortuosity.
Giocanti-Auregan A, Gaudric A, Buffon F, Mine M, Delahaye-Mazza C, Cohen SY, Erginay A, Chabriat H, Lasserve ET, Krivosic V
Ophthalmic Surg Lasers Imaging Retina 2018 Jun 1;49(6):397-401. doi: 10.3928/23258160-20180601-03. PMID: 29927466
A case of carotid aneurysm in familial retinal arterial tortuosity.
Seo JH, Kim I, Yu HG
Korean J Ophthalmol 2009 Mar;23(1):57-8. Epub 2009 Mar 9 doi: 10.3341/kjo.2009.23.1.57. PMID: 19337483Free PMC Article

Clinical prediction guides

Optical Coherence Tomography Angiography of Familial Retinal Arteriolar Tortuosity.
Giocanti-Auregan A, Gaudric A, Buffon F, Mine M, Delahaye-Mazza C, Cohen SY, Erginay A, Chabriat H, Lasserve ET, Krivosic V
Ophthalmic Surg Lasers Imaging Retina 2018 Jun 1;49(6):397-401. doi: 10.3928/23258160-20180601-03. PMID: 29927466
Porencephaly in a fetus and HANAC in her father: variable expression of COL4A1 mutation.
Takenouchi T, Ohyagi M, Torii C, Kosaki R, Takahashi T, Kosaki K
Am J Med Genet A 2015 Jan;167A(1):156-8. Epub 2014 Nov 25 doi: 10.1002/ajmg.a.36823. PMID: 25425218
Straight versus tortuous retinal arteries in relation to blood pressure and genetics.
Taarnhøj NC, Munch IC, Sander B, Kessel L, Hougaard JL, Kyvik K, Sørensen TI, Larsen M
Br J Ophthalmol 2008 Aug;92(8):1055-60. doi: 10.1136/bjo.2007.134593. PMID: 18653600
Autosomal-dominant familial hematuria with retinal arteriolar tortuosity and contractures: a novel syndrome.
Plaisier E, Alamowitch S, Gribouval O, Mougenot B, Gaudric A, Antignac C, Roullet E, Ronco P
Kidney Int 2005 Jun;67(6):2354-60. doi: 10.1111/j.1523-1755.2005.00341.x. PMID: 15882279
Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy.
Vahedi K, Massin P, Guichard JP, Miocque S, Polivka M, Goutières F, Dress D, Chapon F, Ruchoux MM, Riant F, Joutel A, Gaudric A, Bousser MG, Tournier-Lasserve E
Neurology 2003 Jan 14;60(1):57-63. doi: 10.1212/wnl.60.1.57. PMID: 12525718

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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