To report a case of familial exudative vitreoretinopathy
in which genetic testing
was used to confirm the diagnosis with a new mutation identified in FZD4
A 28-year-old girl was addressed to our clinic for surgical management of a macular hole
possibly associated with Coats disease. Multimodal imaging was performed including fundus photography, fundus autofluorescence, optical coherence tomography, fluorescein, and indocyanine green angiography.
On examination, visual acuity was light perception secondary to previous retinal detachment
and 20/32, respectively, in her right and left eye
. Clinical and imaging evaluations showed findings suggestive for familial exudative vitreoretinopathy
. Spectral domain optical coherence tomography study of the macula showed a macular pucker with lamellar macular hole
and a conservative approach was preferred. After 18 months of observation, the patient underwent surgery secondary to the onset of a full thickness macular hole
. After 24 months, the patient’s vision was 20/32. Genetic testing
was used to confirm the diagnosis demonstrating 2 new mutations in FZD4
Our case emphasizes the importance of a prompt recognition of familial exudative vitreoretinopathy
disease also using gene testing and a close follow-up to prevent and manage possible complications.