AI Article Synopsis

  • A 29-year-old Iranian male was diagnosed with Jalili-Smith syndrome (JSS), a rare genetic disorder that causes vision and dental issues, and he presented with acute angle closure glaucoma.
  • JSS typically features symptoms like photophobia, nystagmus, and enamel problems, with many cases observed in areas such as the Gaza Strip, often linked to consanguinity.
  • The patient's condition included several complications, such as cataracts and retinal thinning, and he underwent a unique surgery involving cataract removal and minimally invasive glaucoma procedures, which have not been documented before for JSS patients.

Article Abstract

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.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11452263PMC
http://dx.doi.org/10.7759/cureus.68670DOI Listing

Publication Analysis

Top Keywords

acute angle
8
angle closure
8
closure glaucoma
8
jalili-smith syndrome
8
narrow-angle glaucoma
8
glaucoma
5
glaucoma patient
4
patient jalili-smith
4
syndrome describe
4
describe 29-year-old
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!