A new phenotype or retinal involvement in Steinert Disease: a case report
Leonardo Bottazzi, Riccardo Sacconi, Salvatore Alessi, Charles Anthony Martorana, Bandello Francesco, Giuseppe Querques- Ophthalmology
- General Medicine
ABSTRACT
Purpose:
To report a case illustrating the association of Steinert Disease (SD) with peripheral retinal non-perfusion areas and epiretinal membrane.
Methods:
Case report.
Results:
A 47-year-old Caucasian female diagnosed with SD was referred for blurred vision in her right eye (RE). 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 (SD-OCT) showed an epiretinal membrane with a partial alteration of the foveal profile in the RE. Optical coherence tomography angiography (OCTA) images revealed no evidence of neovascular membrane in the macular region. Fluoresceine angiography (FA) showed retinal peripheral non perfusion areas and leakage in the late phases of the examination.
Conclusion:
Any retinal alteration should be considered during the ophthalmological examination of patients suffering from type 1 myotonic dystrophy. OCT and fluoresceine angiography should be performed evaluating the SD patient that complains about visual impairment.