Complex Retinal Detachment in an Adult Patient With Familial Exudative Vitreoretinopathy: Challenges in Diagnosis and Management.

Purpose: To report an adult case of familial exudative vitreoretinopathy (FEVR) initially resembling high myopia-associated retinal pathology.

Methods

A single case was reviewed.

Results

An adult man with a history of high myopia and recurrent retinal detachments presented with temporal retinal atrophy, vessel straightening, and a large nasal retinal detachment with fibrosis and proliferative vitreoretinopathy (PVR) on dilated fundus examination. Fluorescein angiography (FA) demonstrated peripheral retinal nonperfusion. The patient underwent vitreoretinal surgery with adjunctive intravitreal methotrexate. Genetic testing identified a pathogenic heterozygous FZD4 variant (p.Trp494*), confirming the diagnosis of FEVR. Although FEVR is a rare inherited retinal vascular disorder typically diagnosed in childhood, adult presentations may be misattributed to degenerative myopia, particularly in the presence of overlapping features such as staphylomas, macular atrophy, and retinal detachment.

Conclusions

This case highlights the importance of FA and genetic testing in distinguishing inherited retinal disease from degenerative disease. Greater clinical awareness and access to molecular diagnostics may facilitate earlier recognition and improve the management of atypical retinal detachment in adults.