To report a case of occult macular dystrophy associated with mutations in the RP1L1 and KCNV2 genes.Methods:
Case report. Multimodal retinal imaging and the results of genetic testing are described.Results:
A 27-year-old Chinese man presented with complaints of decreased central vision and normal retinal examination. Color fundus photography and fundus autofluorescence were unremarkable. Spectral-domain optical coherence tomography did reveal central ellipsoid loss in each eye. Genetic testing confirmed mutations in the RP1L1 and KCNV2 genes.Conclusion:
The presence of central ellipsoid loss with spectral-domain optical coherence tomography should be evaluated for genetic disorders such as RP1L1 and KCNV2 mutations.