https://orcid.org/0000-0001-7919-9099
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ABSTRACT
Purpose
Mucopolysaccharidosis Type I (MPS I) is an autosomal recessive lysosomal storage disorder characterized by a defect in the enzyme alpha-L-iduronidase. Glycosaminoglycan accumulation causes ocular involvement such as corneal clouding or pigmentary retinopathy. Here we report bilateral macular cysts in mucopolysaccharidosis type I (MPS I) that responds to nepafenac treatment.
Methods
Retrospective case report.
Results
A 27-year-old woman with MPS I (Scheie phenotype) was complaining of slightly blurred vision. She had been on alpha-L-iduronidase enzyme replacement therapy for ten years. Best-corrected visual acuity was 20/25 in both eyes. Biomicroscopy was normal. Dilated fundus examination revealed pigmentary retinopathy. Optical coherence tomography (OCT) detected macular cysts in inner and outer nuclear layers, with preservation of ellipsoid zone and IS/OS line. There was no dye leakage on fluorescein angiography. Macular cysts regressed partially after one month with topical nepafenac 0.1% four times a day. BCVA improved to 20/20 in both eyes.
Conclusions
This is the first report of bilateral macular cysts that was demonstrated with OCT and treated with topical nepafenac in a patient with MPS I. Because the symptoms of our patient were mild, large-scaled cohort studies are required to ascertain the real prevalence of macular cysts in MPS I. It may also be beneficial to do more research on the possible benefits of nepafenac on the retinal manifestations of MPS.
Disclosure statement
The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.
Patient consent
Oral and written informed consent was obtained from the patient.