To report a case of uncontrolled juvenile open angle glaucoma (JOAG), with secondary high axial myopia who presented with scleral melting and uveal prolapse post pars plana-vitrectomy. A 17-year-old male juvenile glaucoma patient, not known to have any systemic disease underwent a right eye 23-gauge-pars plana vitrectomy for retinal detachment repair. Three weeks following his surgery he presented complaining of tearing and photophobia in the operated eye in the absence of any ocular pain. Clinical exam revealed enlarged sclerotomy sites with localized conjunctival and episcleral injection, scleral thinning and uveal prolapse. Infectious and serologic work up were obtained to rule out an infectious etiology or underlying autoimmune disease. Patient was successfully managed with topical steroids and a donor scleral patch graft. This report addresses multiple risk factors for a devastating complication that may occur in predisposed patients, with primary or secondary axial myopia and a compromised sclera. This group of patients can be at risk of post-operative scleral melting and thinning and should be identified pre-operatively and monitored closely during their post-operative course.
29 December 2024 in American Journal of Case Reports
BACKGROUND We report a case of neurotrophic keratopathy (NK) following micropulse cyclophotocoagulation (MP-CPC), presenting as a ring infiltrate. We describe this clinical presentation after MP-CPC with diagnostic challenges. We provide an approach to how a proper diagnosis was reached and highlight the importance of preoperative assessment of corneal surface health in patients at risk. CASE REPORT A 36-year-old diabetic woman was referred to our cornea clinic for a new onset of a ring infiltrate in her right eye, after undergoing MP-CPC for an uncontrolled neovascular glaucoma. She had no pain or discharge, but was bothered by photophobia. After obtaining a proper medical history, best corrected visual acuity was 3/200 in the affected eye, corneal sensitivity was reduced, and slit lamp examination showed a large inferior corneal epithelial defect with a peripheral anterior stromal ring infiltrate. Corneal scrapings were obtained and differential diagnoses were excluded until a proper diagnosis of NK was reached. As conservative medical treatment with prophylactic antibiotics and frequent lubricating eye drops failed to achieve complete healing of the epithelial defect, amniotic membrane grafting was performed and resulted in complete healing with residual corneal scarring. CONCLUSIONS Neurotrophic keratopathy presenting as a corneal ring infiltrate can be confused with infectious keratitis and result in diagnostic challenges. As cases of NK after MP-CPC are more frequently reported, a routine preoperative assessment of corneal sensation is recommended, especially in patients at risk, such as diabetics. Preoperative counselling, customized treatment protocols such as shortening the treatment time, and close monitoring of postoperative ocular surface health should be implemented following MP-CPC to prevent the occurrence of serious ocular complications such as corneal scarring, melting, or perforation.
Congenital hereditary endothelial dystrophy (CHED) is a rare autosomal recessive disease more common in populations with high consanguinity. This review aims to provide a comprehensive overview of CHED focusing on the underlying genetic and molecular bases, listing identified mutations, and evaluating current and future therapeutic strategies. We performed a comprehensive literature review using PubMed with the keywords “Congenital hereditary endothelial dystrophy (CHED); SLC4A11 gene; Endothelial keratoplasty (EK) and pediatric corneal disease; Genetic therapy and corneal endothelial disease” from 1988 to 2025. Of the reviewed articles (n=494), English-language studies published in the last decade were prioritized and analyzed (n=107). CHED is commonly caused by biallelic SLC4A11 mutations, causing dysfunction of the corneal endothelium, progressive stromal edema, and visual loss. It typically manifests at birth or infancy as bilateral, asymmetric corneal opacification with variable severity. Although penetrating keratoplasty and EK remain the gold standards for the recovery of corneal transparency, novel therapeutics, including gene therapies and mitochondrial-targeted antioxidants, have shown promising results in preclinical studies. Emerging therapeutic strategies are likely to markedly change the current treatment of CHED with less invasive and more effective therapeutic options on the horizon.
31 October 2023 in American Journal of Case Reports
BACKGROUND We report a case of late-onset chronic fistula in a decompensated cornea after multiple ocular surgeries and a recent phototherapeutic keratectomy (PTK). CASE REPORT A 73-year-old woman presented to our service with a past ocular history of bilateral chronic angle closure glaucoma and pseudophakic bullous keratopathy in the left eye. Given a history of long-term uncontrolled glaucoma with advanced disc cupping and poor visual potential, the patient underwent multiple palliative procedures, including, most recently, a PTK. Few years later she presented with a spontaneous late onset of slowly appearing corneal leak on fluorescein staining upon routine clinical examination. Corrected distance visual acuity was hand motion and intraocular pressure (IOP) was 40 mmHg in the affected eye. Serial anterior segment optical coherence tomography (AS-OCT) sections were obtained, which aided in understanding the current presentation and revealed distinctive multilayer corneal changes during the healing process. The patient was successfully managed with cyanoacrylate corneal gluing and ocular hypotensive medications, which halted the corneal leak. CONCLUSIONS We report a case of a rare finding of corneal fistula in an eye with multiple previous ocular surgeries, and provide an explanation of the possible etiopathogenesis. We also highlight the pivotal role of AS-OCT for evaluating such cases and stress the importance of early detection of similar subtle leaks in the setting of a formed anterior chamber, which can often be missed, carrying a risk of infection.
Purpose: To report the profile of newly referred glaucoma patients to the largest tertiary eye care hospital in Saudi Arabia. Patients and Methods: Medical records of all Saudi nationals who presented with glaucoma to the Glaucoma Clinics at King Khaled Eye Specialist Hospital (KKESH) as a first visit through the Eligibility Department, Screening Clinic or Emergency Department between March 2019 and August 2019 were reviewed. Patients underwent a comprehensive glaucoma workup and a detailed documentation of their demographics, clinical exam findings, type and stage of glaucoma at presentation along with previous and offered management. Upon presentation, the stage of glaucoma was compared between eyes with primary glaucoma including primary open-angle glaucoma (POAG), primary angle-closure glaucoma (PACG) and eyes with Secondary glaucoma. Results: A total of 532 patients newly presented to KKESH during the study period. The median (interquartile [IQR] range) age of the patients was 63 (17) years, 47.9% of the patients were female. The majority of referred cases came from Riyadh (46.6%), Najran (9.8%) and AlQassim (9.4%) provinces. PACG was the most predominant form of glaucoma (30.5%), followed by POAG. Pseudoexfoliation glaucoma (PSXG) and neovascular glaucoma (NVG) were the most common subtypes among secondary glaucoma. Two out of every five eyes presenting with glaucoma (41.5%) had severe disease. Conclusion: In this tertiary setting, PACG was the most commonly encountered glaucoma. A significant proportion of the patients, particularly those with POAG (“the silent thief of sight”) presented with an advanced disease. To limit the irreversible visual loss and socio-economic burden of glaucoma, a large community-based study is required to look into the epidemiology of glaucoma among all Saudi provinces followed by the implementation of a national screening and intervention program.
12 April 2022 in American Journal of Ophthalmology Case Reports
To report novel life-threatening coronary and systemic arterial disease associated with Retinal Arterial Macroaneurysms with Supravalvular Pulmonic Stenosis (RAMSVPS) syndrome, previously known as Familial Retinal Arterial Macroaneurysms (FRAM). A 29-years old woman with longstanding poor vision in her right eye presented with acute myocardial infarction and subclavian bruit. Her polyangiogram showed peculiar ostial coronary aneurysms, left anterior descending coronary artery stenosis, occlusion of the left subclavian artery, stenosis of both renal arteries, irregularities in the mesenteric artery and tapering of the aorta. Takayasu arteritis was initially presumed, however fundus examination revealed beading and macroaneurysms along major retinal arteries, intraretinal exudation and hemorrhages, retinal arterial sheathing and stenosis, Coats’-like features and submacular gliosis in the right eye, vitreous hemorrhage in the left eye, and persistent hyaloid artery remnant in both eyes. These features evoked RAMSVPS syndrome. Genetic testing identified the same homozygous IGFBP7 c.830-1G > A mutation reported with RAMSVPS syndrome, rectifying the systemic diagnosis. RAMSVPS syndrome can be associated with more life-threatening coronary and widespread major arterial disease than previously recognized. It is crucial for ophthalmologists to recognize RAMSVPS syndrome and refer patients for a thorough cardiovascular evaluation. Likewise, a careful retinal examination and the possibility of an IGFBP7 mutation should be considered in the setting of systemic arterial or cardiac disease.