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Familial retinal arterial macroaneurysm(RAMSVPS)

MedGen UID:
481835
Concept ID:
C3280205
Disease or Syndrome
Synonym: Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
SNOMED CT: FRAM - familial retinal arterial macroaneurysm (764452004); Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (764452004); RAMSVPS - retinal arterial macroaneurysm with supravalvular pulmonic stenosis (764452004); Familial retinal arterial macroaneurysm (764452004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): IGFBP7 (4q12)
 
Monarch Initiative: MONDO:0013640
OMIM®: 614224
Orphanet: ORPHA284247

Definition

Retinal arterial macroaneurysm is an autosomal recessive condition characterized by the bilateral appearance of 'beading' along the major retinal arterial trunks, with the subsequent formation of macroaneurysms. Affected individuals also have supravalvular pulmonic stenosis, often requiring surgical correction (summary by Abu-Safieh et al., 2011). [from OMIM]

Additional description

From MedlinePlus Genetics
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (RAMSVPS) is a disorder that affects blood vessels in the eyes and heart. The condition generally becomes apparent in infancy or childhood.

RAMSVPS damages the arteries in the light-sensitive tissue at the back of the eye (the retina). These arteries gradually develop multiple small bulges called beading. Eventually, larger bulges in the blood vessel walls (macroaneurysms) occur. These macroaneurysms can tear (rupture), leading to bleeding that can spread into other areas of the eye and cause vision loss.

People with RAMSVPS also have a heart condition called supravalvular pulmonic stenosis. Pulmonic stenosis is a narrowing that affects the pulmonic valve between the heart and the lungs. The term "supravalvular" means that the narrowing occurs just above the valve, in a blood vessel called the pulmonary artery. Supravalvular pulmonic stenosis impairs blood flow into the lungs, where blood normally picks up oxygen for distribution to cells and tissues throughout the body. As a result, less oxygen is carried through the bloodstream, leading to signs and symptoms that include shortness of breath; a rapid heartbeat; fatigue; and swelling in the face, feet, or abdomen.  https://medlineplus.gov/genetics/condition/retinal-arterial-macroaneurysm-with-supravalvular-pulmonic-stenosis

Clinical features

From HPO
Retinal arterial macroaneurysms
MedGen UID:
602318
Concept ID:
C0423402
Acquired Abnormality
Acquired focal dilatations of branches of the retinal artery, usually second-order retinal arterioles, that range in size from 100 to 200 micrometers in diameter. Macroaneurysms are generally located at the temporal retina and may be hemorrhagic or exudative.
Pulmonic stenosis
MedGen UID:
408291
Concept ID:
C1956257
Disease or Syndrome
A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).
Exudative retinal detachment
MedGen UID:
57823
Concept ID:
C0154822
Disease or Syndrome
A type of retinal detachment arising from damage to the outer blood-retinal barrier that allows fluid to access the subretinal space and separate the neurosensory retina from the retinal pigment epithelium.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial retinal arterial macroaneurysm
Follow this link to review classifications for Familial retinal arterial macroaneurysm in Orphanet.

Recent clinical studies

Etiology

Khan AO, Pichi F, Neri P, Abboud EB
Ophthalmic Genet 2022 Feb;43(1):58-63. Epub 2021 Sep 14 doi: 10.1080/13816810.2021.1978104. PMID: 34519236
AlZaid A, Magliyah M, Schatz P, Al-Dhibi H
Ophthalmic Genet 2020 Aug;41(4):394-396. Epub 2020 May 19 doi: 10.1080/13816810.2020.1766088. PMID: 32429784
Alkuraya H, Patel N, Ibrahim N, Al Ghamdi B, Alsulaiman SM, Nowilaty SR, Abboud E, Alturki R, Alkharashi A, Eyaid W, Almasseri Z, Alzaidan H, Alotaibi MD, Abu El-Asrar AM, Alamro B, Helaby R, Elshaer A, Almontashiri NAM, Al-Hussaini AA, Alkuraya FS
Clin Genet 2020 Mar;97(3):447-456. Epub 2019 Dec 2 doi: 10.1111/cge.13676. PMID: 31730227

Diagnosis

Khan AO, Pichi F, Neri P, Abboud EB
Ophthalmic Genet 2022 Feb;43(1):58-63. Epub 2021 Sep 14 doi: 10.1080/13816810.2021.1978104. PMID: 34519236
Alotaibi MD, Alsarhani WK, Al-Qahtani BS, AlBloushi AF, Abu El-Asrar AM
Middle East Afr J Ophthalmol 2020 Oct-Dec;27(4):228-230. Epub 2021 Jan 19 doi: 10.4103/meajo.MEAJO_256_20. PMID: 33814820Free PMC Article
AlZaid A, Magliyah M, Schatz P, Al-Dhibi H
Ophthalmic Genet 2020 Aug;41(4):394-396. Epub 2020 May 19 doi: 10.1080/13816810.2020.1766088. PMID: 32429784
Alkuraya H, Patel N, Ibrahim N, Al Ghamdi B, Alsulaiman SM, Nowilaty SR, Abboud E, Alturki R, Alkharashi A, Eyaid W, Almasseri Z, Alzaidan H, Alotaibi MD, Abu El-Asrar AM, Alamro B, Helaby R, Elshaer A, Almontashiri NAM, Al-Hussaini AA, Alkuraya FS
Clin Genet 2020 Mar;97(3):447-456. Epub 2019 Dec 2 doi: 10.1111/cge.13676. PMID: 31730227

Therapy

AlZaid A, Magliyah M, Schatz P, Al-Dhibi H
Ophthalmic Genet 2020 Aug;41(4):394-396. Epub 2020 May 19 doi: 10.1080/13816810.2020.1766088. PMID: 32429784

Prognosis

AlZaid A, Magliyah M, Schatz P, Al-Dhibi H
Ophthalmic Genet 2020 Aug;41(4):394-396. Epub 2020 May 19 doi: 10.1080/13816810.2020.1766088. PMID: 32429784
Alkuraya H, Patel N, Ibrahim N, Al Ghamdi B, Alsulaiman SM, Nowilaty SR, Abboud E, Alturki R, Alkharashi A, Eyaid W, Almasseri Z, Alzaidan H, Alotaibi MD, Abu El-Asrar AM, Alamro B, Helaby R, Elshaer A, Almontashiri NAM, Al-Hussaini AA, Alkuraya FS
Clin Genet 2020 Mar;97(3):447-456. Epub 2019 Dec 2 doi: 10.1111/cge.13676. PMID: 31730227

Clinical prediction guides

Alkuraya H, Patel N, Ibrahim N, Al Ghamdi B, Alsulaiman SM, Nowilaty SR, Abboud E, Alturki R, Alkharashi A, Eyaid W, Almasseri Z, Alzaidan H, Alotaibi MD, Abu El-Asrar AM, Alamro B, Helaby R, Elshaer A, Almontashiri NAM, Al-Hussaini AA, Alkuraya FS
Clin Genet 2020 Mar;97(3):447-456. Epub 2019 Dec 2 doi: 10.1111/cge.13676. PMID: 31730227

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