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Published on: December 22, 2014
OCCULT MACULAR DYSTROPHY WITH MUTATIONS IN THE RP1L1 AND KCNV2 GENES
1*Retinal Disorders and Ophthalmic Genetics Division, Stein Eye Institute, University of California Los Angeles Geffen School of Medicine, Los Angeles, California; and †Greater Los Angeles Veterans Administration Healthcare Center, Los Angeles, California.
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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