CLINICAL FEATURES IN A CASE OF OCCULT MACULAR DYSTROPHY WITH RP1L1 MUTATION.

PURPOSE: To investigate appropriate diagnostic testing for occult macular dystrophy (OMD) in a patient with unexplained progressive visual loss.

METHODS: Observational case report.

RESULTS: Occult macular dystrophy is an uncommon autosomal dominant macular disease, but sporadic occurrences have been noted. We report a patient with progressive visual decline, but with normal findings in fundus photography, visual field, fluorescein angiography, and full-field standard electroretinography. Direct sequencing of the RP1L1 gene showed a c. 133C>T mutation, which confirmed the diagnosis of OMD genetically. The only two ocular examinations that can show abnormal findings in such cases are spectral domain optical coherence tomography and multifocal electroretinography. Therefore, spectral domain optical coherence tomography and multifocal electroretinography are very important in making a diagnosis of OMD before applying expansive techniques such as brain computed tomography or magnetic resonance imaging.

CONCLUSION: Spectral domain optical coherence tomography and multifocal electroretinography can serve as diagnostic testings for patients with OMD.