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

Abstract

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.

Keywords

Retinal arterial macroaneurysm exudative retinal detachment loeys-Dietz syndrome TGFBR1 transscleral diode photocoagulation

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References

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