Artikel ; Online: Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome.
2019 Band 97, Heft 3, Seite(n) 447–456
Abstract: Retinal arterial macroaneurysms with supravalvular pulmonic stenosis (RAMSVPS), also known as Familial Retinal Arterial Macroaneurysms (FRAM) syndrome, is a very rare multisystem disorder. Here, we present a case series comprising ophthalmologic and ... ...
| Abstract | Retinal arterial macroaneurysms with supravalvular pulmonic stenosis (RAMSVPS), also known as Familial Retinal Arterial Macroaneurysms (FRAM) syndrome, is a very rare multisystem disorder. Here, we present a case series comprising ophthalmologic and systemic evaluation of patients homozygous for RAMSVPS syndrome causative IGFBP7 variant. New clinical details on 22 previously published and 8 previously unpublished patients are described. Age at first presentation ranged from 1 to 34 years. The classical feature of macroaneurysms and vascular beading involving the retinal arteries was universal. Follow up extending up to 14 years after initial diagnosis revealed recurrent episodes of bleeding and leakage from macroaneurysms in 55% and 59% of patients, respectively. The majority of patients who underwent echocardiography (18/23) showed evidence of heart involvement, most characteristically pulmonary (valvular or supravalvular) stenosis, often requiring surgical correction (12/18). Four patients died in the course of the study from complications of pulmonary stenosis, cerebral hemorrhage, and cardiac complications. Liver involvement (usually cirrhosis) was observed in eight patients. Cerebral vascular involvement was observed in one patient, and stroke was observed in two. We conclude that RAMSVPS is a recognizable syndrome characterized by a high burden of ocular and systemic morbidity, and risk of premature death. Recommendations are proposed for early detection and management of these complications. |
|||||
|---|---|---|---|---|---|---|
| Mesh-Begriff(e) | Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Fluorescein Angiography ; Fundus Oculi ; Genetic Predisposition to Disease ; Homozygote ; Humans ; Infant ; Insulin-Like Growth Factor Binding Proteins/genetics ; Male ; Pulmonary Valve Stenosis/complications ; Pulmonary Valve Stenosis/diagnostic imaging ; Pulmonary Valve Stenosis/genetics ; Pulmonary Valve Stenosis/pathology ; Retinal Arterial Macroaneurysm/complications ; Retinal Arterial Macroaneurysm/diagnostic imaging ; Retinal Arterial Macroaneurysm/genetics ; Retinal Arterial Macroaneurysm/pathology ; Retinal Artery/diagnostic imaging ; Retinal Artery/metabolism ; Retinal Artery/pathology ; Visual Acuity/genetics ; Visual Acuity/physiology ; Young Adult | |||||
| Chemische Substanzen | Insulin-Like Growth Factor Binding Proteins ; insulin-like growth factor binding protein-related protein 1 | |||||
| Sprache | Englisch | |||||
| Erscheinungsdatum | 2019-12-02 | |||||
| Erscheinungsland | Denmark | |||||
| Dokumenttyp | Journal Article ; Research Support, Non-U.S. Gov't | |||||
| ZDB-ID | 221209-2 | |||||
| ISSN | 1399-0004 ; 0009-9163 | |||||
| ISSN (online) | 1399-0004 | |||||
| ISSN | 0009-9163 | |||||
| DOI | 10.1111/cge.13676 | |||||
| Signatur |
|
|||||
| Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
Volltext online
Zusatzmaterialien
Kategorien
Verfügbar in ZB MED Köln/Königswinter
| Zs.A 413: Hefte anzeigen | Standort: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG) |
Über subito bestellen
Dieser Service ist kostenpflichtig (siehe Lieferbedingungen von subito). Bestellungen, die einen Artikel nebst Supplementary Material umfassen, werden grundsätzlich wie mehrfache Bestellungen bearbeitet. Gebühren fallen in diesen Fällen für jede einzelne Bestellung an.