A NEW PHENOTYPE OR RETINAL INVOLVEMENT IN STEINERT DISEASE: A CASE REPORT

The purpose of this article was to report a case illustrating the association of Steinert disease with peripheral retinal nonperfusion areas and epiretinal membrane.

This was a case report.

A 47-year-old White woman diagnosed with Steinert disease was referred for blurred vision in her right eye. She presented bilateral ptosis with deficit of elevator muscle. Dilated fundus examination revealed altered macular reflex, peripheral vascular alterations, and ghost vessels bilaterally. Structural spectral domain optical coherence tomography showed an epiretinal membrane with a partial alteration of the foveal profile in the right eye. Optical coherence tomography angiography images revealed no evidence of neovascular membrane in the macular region. Fluorescein angiography showed retinal peripheral nonperfusion areas and leakage in the late phases of the examination.

Any retinal alteration should be considered during the ophthalmological examination of patients suffering from type 1 myotonic dystrophy. Optical coherence tomography and fluorescein angiography should be performed evaluating the patient with Steinert disease who complains about visual impairment.