European journal of ophthalmology · 2023
Novel pathogenic TGFBR1 variant identified in an adult with acquired retinal arterial macroaneurysm in loeys-dietz syndrome.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
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Lu Yao, Ma Zhizhong
Аннотация
BACKGROUND: Loeys-Dietz syndrome (LDS) is an autosomal dominant disorder of the connective tissue that has phenotypic overlap with Marfan syndrome，but the aortic root dissections can be more aggressive and ocular findings in LDS may be very different than Marfan syndrome.
METHODS: Review of one case of LDS with novel retinal findings.
RESULTS: A 30-year-old female with LDS was found to have retinal arterial macroaneurism (RAM) in the left eye. Local laser photocoatulation and intravitreal anti-VEGF was applied but exudative retinal detachment developed soon after that. Transscleral diode photocoagulation was then performed and subretinal fluid was resolved.
CONCLUSION: RAM is a unique finding of LDS related to a novel mutation of TGFBR1.
METHODS: Review of one case of LDS with novel retinal findings.
RESULTS: A 30-year-old female with LDS was found to have retinal arterial macroaneurism (RAM) in the left eye. Local laser photocoatulation and intravitreal anti-VEGF was applied but exudative retinal detachment developed soon after that. Transscleral diode photocoagulation was then performed and subretinal fluid was resolved.
CONCLUSION: RAM is a unique finding of LDS related to a novel mutation of TGFBR1.