Novel pathogenic TGFBR1 variant identified in an adult with acquired retinal arterial macroaneurysm in loeys-dietz syndrome

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.

Automated summary

This case report describes a unique retinal finding in a patient with Loeys-Dietz syndrome. The patient, a 30-year-old female with LDS, was found to have retinal arterial macroaneurism (RAM) in the left eye. Treatment with laser photocoagulation and transscleral diode photocoagulation successfully resolved the subretinal fluid. The finding of RAM is related to a novel mutation of TGFBR1 gene in LDS.