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

Area of Science:

• Ophthalmology
• Medical Genetics
• Retinal Imaging

Background:

• Steinert disease, also known as type 1 myotonic dystrophy, is a multisystemic disorder.
• Ocular manifestations in myotonic dystrophy are common but retinal involvement requires further investigation.

Purpose of the Study:

• To report a case of Steinert disease associated with peripheral retinal nonperfusion and epiretinal membrane.
• To highlight the importance of comprehensive ophthalmological evaluation in patients with Steinert disease.

Main Methods:

• Case report of a 47-year-old woman with Steinert disease and blurred vision.
• Ophthalmological examination including dilated funduscopy, spectral domain optical coherence tomography (SD-OCT), OCT angiography, and fluorescein angiography (FA).

Main Results:

• The patient presented with bilateral ptosis and visual impairment.
• Fundus examination revealed peripheral vascular alterations and ghost vessels.
• SD-OCT showed an epiretinal membrane, while FA demonstrated peripheral retinal nonperfusion areas and late leakage.
• OCT angiography ruled out macular neovascularization.

Conclusions:

• Retinal alterations should be considered in the ophthalmological assessment of patients with type 1 myotonic dystrophy.
• Optical coherence tomography and fluorescein angiography are recommended for patients with Steinert disease presenting with visual impairment.