Imaging of Muller cell sheen dystrophy

Area of Science:

• Ophthalmology
• Retinal Diseases
• Genetic Eye Conditions

Background:

• Muller cell sheen dystrophy (MSD) is an exceptionally rare inherited retinal disorder.
• It is characterized by bilateral, symmetrical, iridescent, refractile deposits within the inner retina.
• MSD typically affects young adults and is often associated with progressive visual impairment.

Observation:

• A 42-year-old woman presented with unilateral defective vision.
• Fundus examination showed bilateral glistening retinal reflexes and a wrinkled appearance in the right eye.
• Spectral Domain-Optical Coherence Tomography (SD-OCT) revealed abnormalities in the internal limiting membrane, intraretinal schisis, and macular serous detachment.

Findings:

• SD-OCT confirmed intraretinal schisis and serous macular detachment.
• Fundus angiography demonstrated vascular staining.
• Electroretinogram (ERG) in the affected eye was non-recordable, indicating severe retinal dysfunction.
• Over four months, vision declined, and intraretinal schisis worsened.

Implications:

• This case underscores the diagnostic challenges of rare retinal dystrophies.
• Advanced imaging like SD-OCT is crucial for characterizing MSD.
• Understanding the clinical progression aids in patient counseling and management strategies.
• Further research into the genetic basis and pathophysiology of MSD is warranted.