We describe a 29-year-old Iranian male with Jalili-Smith syndrome (JSS), who presented with acute angle closure glaucoma. JSS is a rare autosomal recessive oculo-dental disorder characterized by cone-rod dystrophy and amelogenesis imperfecta. Though the disease is observed worldwide, many cases are concentrated in the Gaza Strip. Consanguinity is an important risk factor. Patients typically present with photophobia, nystagmus, and enamel deformation. Our patient exhibited nystagmus, photophobia, cataracts, hyperopia, narrow-angle glaucoma, marked thinning of the retina, and bull's eye maculopathy. In addition, we describe the findings of optical coherence tomography angiography (OCTA). Our patient also underwent phacoemulsification in both eyes with concomitant minimally invasive glaucoma surgeries (MIGS). To the best of our knowledge, narrow-angle glaucoma, OCTA findings, and cataract surgery combined with MIGS have not been reported before in patients with JSS.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11452263 | PMC |
http://dx.doi.org/10.7759/cureus.68670 | DOI Listing |
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