Suresh Sruthi, Zuberi Hafsa Z, Khandekar Rahul, Buchanan Emily B, Kooner Karanjit S
Ophthalmology, University of Texas Southwestern Medical Center, Dallas, USA.
School of Medicine, Texas Tech University Health Sciences Center, Lubbock, USA.
Cureus. 2024 Sep 4;16(9):e68670. doi: 10.7759/cureus.68670. eCollection 2024 Sep.
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.
我们描述了一名患有贾利利 - 史密斯综合征（JSS）的29岁伊朗男性，他表现为急性闭角型青光眼。JSS是一种罕见的常染色体隐性眼牙疾病，其特征为锥杆营养不良和釉质发育不全。尽管该疾病在全球范围内都有发现，但许多病例集中在加沙地带。近亲结婚是一个重要的风险因素。患者通常表现为畏光、眼球震颤和牙釉质变形。我们的患者表现出眼球震颤、畏光、白内障、远视、窄角型青光眼、视网膜明显变薄和牛眼黄斑病变。此外，我们描述了光学相干断层扫描血管造影（OCTA）的检查结果。我们的患者还接受了双眼白内障超声乳化手术，并同时进行了微创青光眼手术（MIGS）。据我们所知，JSS患者中此前尚未有窄角型青光眼、OCTA检查结果以及白内障手术联合MIGS的相关报道。
