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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.
 
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.
Retinal hemorrhage
MedGen UID:
11210
Concept ID:
C0035317
Pathologic Function
Hemorrhage occurring within the retina.
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).
Retinal arteriolar tortuosity
MedGen UID:
1830276
Concept ID:
C5779554
Finding
The presence of an increased number of twists and turns of the retinal arterioles.

Term Hierarchy

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

Conditions with this feature

Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity
MedGen UID:
1841145
Concept ID:
C5830509
Disease or Syndrome
Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity (NEDIHSS) is an autosomal recessive disorder characterized by prenatal or neonatal onset of intracranial hemorrhage, usually with ventriculomegaly and calcifications, resulting in parenchymal brain damage. Some affected individuals have symptoms incompatible with life and die in utero. Those that survive show profound global developmental delay with almost no motor or cognitive skills, hypotonia, spasticity, and seizures. Other features may include facial dysmorphism, retinal vascular abnormalities, and poor overall growth. The pathogenesis of the disease likely results from dysfunction of vascular endothelial cells in the brain (Lecca et al., 2023).

Recent clinical studies

Etiology

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
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

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
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
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
Katsman D, Klufas MA, Sarraf D, Sadda S
JAMA Ophthalmol 2016 Jan;134(1):111-4. doi: 10.1001/jamaophthalmol.2015.4645. PMID: 26605691
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

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
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

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
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
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
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
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

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