Variant Synonymizer: Platform to identify mutations defined in different ways is available now!
Over 2,000 gene–disease validation summaries are now available—no login required!
Familial retinal arterial macroaneurysm (FRAM) is an uncommon vascular disorder characterized by aneurysmal dilatations of retinal arteries leading to vision loss. To date, a single report describes a 30-year-old male proband with FRAM harboring an IGFBP7 gene mutation who developed an acute coronary syndrome due to a large left anterior descending artery aneurysm, representing the first systemic vascular manifestation linked to IGFBP7 in FRAM ([PMID:35514799]). No familial segregation or functional assays have been performed to corroborate pathogenicity, and the variant spectrum remains undefined. Genetic testing of IGFBP7 in individuals with retinal arterial macroaneurysm may identify at-risk patients for systemic vascular screening and guide clinical management.
Gene–Disease AssociationLimitedSingle proband with IGFBP7 mutation in FRAM ([PMID:35514799]) and no segregation or functional confirmation Genetic EvidenceLimitedOne reported case of IGFBP7 mutation in FRAM without family segregation ([PMID:35514799]) Functional EvidenceNoneNo experimental studies evaluating IGFBP7 function in FRAM have been reported |