Purpose: To report the first case of a cone dystrophy with central ellipsoid zone loss associated with a mutation in the human retinal fascin gene (FSCN2).
Methods: Multimodal retinal imaging findings including spectral domain optical coherence tomography and fundus autofluorescence are presented. The results of functional testing and mutational analysis are also discussed.
Patients: Single patient with a diagnosis of cone dystrophy.
Results: Spectral domain optical coherence tomography imaging illustrated central loss of the ellipsoid zone band in each eye. Full-field and multifocal electroretinogram testing confirmed a diagnosis of cone dystrophy in a 35-year-old male patient. Subsequent cone dystrophy genetic panel identified a novel mutation (p.Pro406Leu:c.1217C>T) in the FSCN2 gene.
Conclusion: This is the first case report of a patient diagnosed with cone dystrophy associated with a novel mutation in the FSCN2 gene. FSCN2 genetic testing should be considered in patients with central ellipsoid loss and cone dystrophy, especially as specific gene therapy treatments emerge in the future.