OCCULT MACULAR DYSTROPHY WITH MUTATIONS IN THE RP1L1 AND KCNV2 GENES

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Abstract

Purpose:

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.

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