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Norrie disease with a spontaneously shrinking choroid plexus abnormality: a case report
Subhi Talal Younes1,2, James Mason Shiflett3, Kristin Weaver3
1School of Medicine, University of Mississippi Medical Center, Jackson, Mississippi, USA.
Ophthalmic Genetics
|March 1, 2021
Summary
Norrie disease, a genetic retinal disorder, can present with choroid plexus lesions. This case report suggests that watchful waiting is a suitable approach for these neurological masses in patients with Norrie disease.
Area of Science:
- Ophthalmology
- Genetics
- Neurology
Background:
- Norrie disease is a rare genetic disorder affecting retinal vascular development, leading to blindness.
- Non-retinal symptoms include intellectual disability and seizures.
- Neurological mass lesions have not been previously associated with Norrie disease.
