Acute Angle Closure Glaucoma in a Patient With Jalili-Smith Syndrome

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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Publication Details

Journal
Cureus
Published
2024-09-04
DOI
https://doi.org/10.7759/cureus.68670
Primary Topic
RNA regulation and disease
Type
article
Field-Weighted Citation Impact
0.00

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article

Acute Angle Closure Glaucoma in a Patient With Jalili-Smith Syndrome

Karanjit Kooner, Hafsa Zuberi, Sruthi Suresh, Rahul Khandekar et al.
Cureus
RNA regulation and disease
article

Acute Angle Closure Glaucoma in a Patient With Jalili-Smith Syndrome

Karanjit Kooner, Hafsa Zuberi, Sruthi Suresh, Rahul Khandekar, Emily Buchanan
article en

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.

CureusVol. 16(9)
Texas Tech University (US), The University of Texas at San Antonio Health Science Center (US), The University of Texas Southwestern Medical Center (US), Texas Tech University Health Sciences Center (US)
University of Texas at Dallas
Openalex Percentile: Top 87%
RNA regulation and disease
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