Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis

Alternative Names

  • RAMSVPS
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WHO-ICD-10 version:2010

Diseases of the eye and adnexa

Disorders of choroid and retina

OMIM Number

614224

Mode of Inheritance

Autosomal recessive

Gene Map Locus

4q12

Description

The retinal arterial macroaneurysm with supravalvular pulmonic stenosis is an autosomal recessive disorder characterized by the bilateral appearance of 'beading' along the major retinal arterial trunks, with the subsequent formation of macroaneurysms.  Patients with RAMSVPS also have supravalvular pulmonic stenosis, often requiring surgical correction.

Retinal arterial macroaneurysm with supravalvular pulmonic stenosis has been linked to chromosome 4q12, in which mutations in the insulin-like growth factor (IGF)-binding protein 7 (IGFBP7) were identified in the affected patients.  IGFBP7 gene is expressed by smooth muscles-invested vessels of the retinal vasculature; it plays important physiological functions through the modulation of IGF signaling as well as IGF-independent mechanisms.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
602867.1United Arab EmiratesMaleYesYes Pulmonic stenosis; Delayed speech and la...NM_001553.3:c.830-1G>AHomozygousAutosomal, RecessiveSaleh et al. 2021 Similarly affected s...
614224.G.1United Arab Emirates Retinal hemorrhage; Retinal arterial mac...NM_001553.3:c.830-1G>AHomozygousAutosomal, RecessiveKhan et al. 2022 Two siblings from an...
614224.G.2Saudi ArabiaYesYes Retinal arterial macroaneurysmsNM_001553.3:c.830-1G>AHomozygousAutosomal, RecessiveAbu-Safieh et al. 2011; Dhindsa and Abboud, 2002 17 patients (11males...
614224.G.3Saudi ArabiaYesYes Retinal arterial macroaneurysmsNM_001553.3:c.830-1G>AHomozygousAbu-Safieh et al. 2011; Dhindsa and Abboud, 2002 Five patients (1 mal...
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