Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome

• Published in: Clinical genetics Vol. 97; no. 3; pp. 447 - 456
• Main Authors: Alkuraya, Hisham, Patel, Nisha, Ibrahim, Niema, Al Ghamdi, Bandar, Alsulaiman, Sulaiman M., Nowilaty, Sawsan R., Abboud, Emad, Alturki, Ramadan, Alkharashi, Abdullah, Eyaid, Wafaa, Almasseri, Zainab, Alzaidan, Hamad, Alotaibi, Mohammed D., Abu El‐Asrar, Ahmed M., Alamro, Bandar, Helaby, Rana, Elshaer, Amani, Almontashiri, Naif A.M., Al‐Hussaini, Abdulrahman A., Alkuraya, Fowzan S.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.03.2020
• Subjects: Adolescent; Adult; aneurysm; Arteries; Child; Child, Preschool; Cirrhosis; congenital heart disease; Echocardiography; Female; Fluorescein Angiography; Fundus Oculi; Genetic Predisposition to Disease; Hemorrhage; Homozygote; Humans; Infant; Insulin-Like Growth Factor Binding Proteins - genetics; Liver cirrhosis; Male; Morbidity; Pulmonary Valve Stenosis - complications; Pulmonary Valve Stenosis - diagnostic imaging; Pulmonary Valve Stenosis - genetics; Pulmonary Valve Stenosis - pathology; Retina; 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; retinal detachment; Stenosis; Visual Acuity - genetics; Visual Acuity - physiology; Young Adult; congenital heart disease; aneurysm; retinal detachment; stenosis; hemorrhage

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 RAM...