Retinal arteriolar macroaneurysms with supravalvular pulmonic stenosis in the United Arab Emirates
| Autor: | Francesco Pichi, Arif O. Khan, Piergiorgio Neri, Emad B. Abboud |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Male
medicine.medical_specialty Pulmonic stenosis Saudi Arabia United Arab Emirates chemistry.chemical_compound stomatognathic system Internal medicine medicine Retinal macroaneurysm Humans Rare syndrome Genetics (clinical) Retrospective Studies business.industry Retinal eye diseases Pulmonary Valve Stenosis Ophthalmology chemistry Child Preschool Retinal Arterial Macroaneurysm Pediatrics Perinatology and Child Health Cardiology Retinal Telangiectasis Female sense organs business |
| Zdroj: | Ophthalmic Genetics. 43:58-63 |
| ISSN: | 1744-5094 1381-6810 |
| DOI: | 10.1080/13816810.2021.1978104 |
| Popis: | Retinal arteriolar macroaneurysms with supravalvular pulmonic stenosis (RAMSVPS) is a rare syndrome that to date has only been reported in Saudi Arabian families. All tested patients have been homozygous for a singleRetrospective case series.Five affected individuals (two males and three females) from two unrelated Emirati families were known to our institution (age of first signs 6 months to 10 years of age, with one asymptomatic 6-year-old boy identified by sibling screening examination). Initial ophthalmic diagnoses had been Coats disease or traumatic retinal bleeding. Characteristic retinal arteriolar trunk beading and macroaneurysms led to the actual diagnosis of RAMSVPS. One child with esotropia at 6 months of age seemed to have unilateral Coats disease until retinal signs became apparent in the contralateral eye at 4 years old. One family consented to genetic testing, and both affected siblings were homozygous for the SaudiThe distinct ophthalmic phenotype of RAMSVPS is important to recognize because of systemic implications. Retinal findings can be misinterpreted as sequelae of trauma or Coats disease and can seem unilateral in very young children until changes in the contralateral eye become apparent years later. The homozygous |
| Databáze: | OpenAIRE |
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