Long-term functional and structural outcomes after large chorioretinectomy for ruptured globe following blunt trauma.

BACKGROUND: The purpose of this study was to present a modified surgical technique involving pars plana vitrectomy with large chorioretinectomy for eyes with rupture of the globe due to severe ocular blunt trauma. METHODS: This retrospective study included consecutive patients with rupture of the globe due to blunt trauma who were treated at the King Khaled Eye Specialist Hospital (Riyadh, Saudi Arabia). All patients underwent 25-gauge pars plana vitrectomy with large chorioretinectomies involving all the tissue around the posterior scleral wounds. Outcome measures included best-corrected visual acuity (BCVA), anatomical success and globe survival, rates of complications. RESULTS: 15 eyes of 15 patients were included. Mean BCVA was 2.88 ± 0.13 logMAR at presentation, and significantly improved to 0.83 ± 0.28 logMAR (P < 0.001), with 10 patients (67%) achieving a final BCVA ≥ 20/200. Anatomical success and globe survival were achieved in 11 (73%) and 15 (100%) of eyes, respectively. Postoperative complications included retinal detachment in 6 eyes (40%), epiretinal membrane in 6 (40%), hypotony in 4 (26%), PVR in 2 (13%). CONCLUSIONS: Pars plana vitrectomy with large chorioretinectomy is an effective treatment for globe rupture following severe blunt trauma, yielding good visual outcomes and anatomical success rates.

Cone dystrophy associated with autoimmune polyglandular syndrome type 1.

To report the association of autoimmune polyglandular syndrome type 1 (APS1) with cone dystrophy in a large Saudi family. This is a Retrospective chart review and prospective genetic testing and ophthalmic examination of a large multiplex consanguineous family. Genetic testing was performed on 14 family members, seven of whom had detailed ophthalmic examinations. Medical history, ocular history and evaluation, visual field testing, full-field electroretinogram (ERG), and Whole Exome Sequencing (WES) results were analyzed. Three family members were homozygous for c.205_208dupCAGG;p.(Asp70Alafs*148) in AIRE and homozygous for c.481-1G>A in PDE6C. One additional family member was homozygous for only the AIRE variant and another additional family member was homozygous for only the PDE6C variant. All patients with homozygosity for the PDE6C variant had cone dystrophy, and all patients with homozygosity for the AIRE variant had APS1. In addition, two of the family members who were homozygous for the PDE6C and AIRE variants had reduced rod function on ERG. We report the co-inheritance for APS1 and PDE6C-related cone dystrophy, an unusual example of two seemingly independent recessive conditions coinciding within a family. Dual molecular diagnosis must be taken into account by ophthalmologists facing unusual constellations of findings, especially in consanguineous families.

Comparison of the Ahmed and Baerveldt Glaucoma Drainage Implants in the Treatment of Primary Congenital Glaucoma.

PURPOSE: To compare the outcomes of the Ahmed glaucoma valve (AGV) (New World Medical, Inc) with the Baerveldt glaucoma implant (BGI) (Johnson & Johnson Vision) in primary congenital glaucoma (PCG). METHODS: This was a retrospective review of children with PCG who underwent AGV or BGI implantation with a minimum follow-up of 6 months. Main outcome measures were intraocular pressure (IOP), the number of glaucoma medications, success rate, complications, and surgical revisions. RESULTS: The study included 153 eyes of 86 patients (120 eyes in the AGV group and 33 eyes in the BGI group), and the mean follow-up period was 58.7 ± 6.9 months in the AGV group and 58.5 ± 5.0 months in the BGI group. At baseline, IOP was lower in the AGV group (33 ± 6.3 vs 36.4 ± 6.1 months; P = .004) and the number of glaucoma medications was comparable between groups (3.4 ± 0.9 vs 3.6 ± 0.5 medication; P = .183). At 5 years, the mean IOP (18.4 ± 5.0 vs 16.3 ± 2.5 mm Hg; P = .004) and number of glaucoma medications (2.1 ± 1.3 vs 1.0 ± 1.0 medication; P = .001) were significantly less in the BGI group. Furthermore, the surgical success was 53.4% in the AGV group and 78.8% in the BGI group (P = .013). CONCLUSIONS: Both the AGV and BGI were successful in providing adequate IOP control in patients with PCG. Long-term follow-up showed that the BGI was associated with a lower IOP, fewer glaucoma medications, and a higher success rate. [J Pediatr Ophthalmol Strabismus. 2023;60(6):448-454.].

Risk factors, complications, and outcomes of phacoemulsification cataract surgery complicated by retained lens fragments in Asian eyes: A 10-year retrospective study.

PURPOSE: To study the risk factors, visual outcomes, and sequelae of phacoemulsification surgery complicated by retained lens fragments (RLFs). METHODS: This single-center case-control study enrolled consecutive eyes complicated by RLF and compared them to age- and gender-matched uneventful cataract surgery cases at a tertiary care teaching hospital. Biometric, intraoperative, and postoperative data were collected. The primary outcome measures were risk factors, visual outcomes, and rate of postoperative complications. RESULTS: The study and control groups included 282 and 289 eyes, respectively. The estimated incidence of RLF was 1.47% during the study. We found a statistically higher risk of RLF among diabetics (P < 0.001), those with a history of intravitreal injections (P = 0.001), eyes with dense nuclear sclerosis, anterior capsular cataract (P < 0.001), and posterior polar cataract (P = 0.01). There was a statistically higher risk of RLF in eyes with a higher mean preoperative visual acuity (logarithm of the minimum angle of resolution) (P < 0.001) and in cases performed by trainees (P < 0.001). Most eyes in the RLF group (n = 207, 73.4%) retained their preoperative vision or experienced a one-line improvement in visual acuity and 14 eyes (5.3%) experienced more than one-line improvement in vision. CONCLUSION: Although RLFs are rare, they can affect the quality of postoperative vision and outcomes of complicated phacoemulsification surgery.

Long-term outcomes and causes of intrastromal corneal ring segment explantation in a tertiary eye hospital.

PURPOSE: To evaluate the causes and long-term outcomes after intrastromal corneal ring segment (ICRS) explantation in the King Khaled Eye Specialist Hospital. METHODS: This was retrospective cohort study. Two groups were analyzed: Group one, ICRS surgery done in our hospital (n = 41) and group two, surgery done outside but removed in our hospital (n = 29). Causes and postoperative management after ICRS removal were analyzed. For statistical analysis, groups were analyzed into two subgroups of causes of ICRS removal: Visual disturbance versus extrusion/infection/neovascularization (NV) subgroups; and two subgroups of postoperative treatment: Corneal transplant (CT) versus Contact lens (CL)/eyeglasses subgroups. RESULTS: The most common cause of ICRS removal in group one was visual disturbance (45.2%) while in group two was extrusion (41.2%). CL is the preferable management after explantation. 76% of ICRS removal occurred during the first 4 years. In group 1, there was significant worse preimplantation visual acuity (P = 0.02) in CT subgroup versus CL/eyeglasses. CT subgroup had lower pachymetry of 437.4 µm (P = 0.04) and higher myopia of 8.05 (P = 0.03) than CL/eyeglasses subgroup. For group two, there was a significant improvement in uncorrected visual acuity in visual disturbances subgroup after explantation (P = 0.004). After explantation, visual disturbances subgroup had higher myopia -4.4 than extrusion subgroup -1.15 (P = 0.004). CONCLUSION: Seventy-six percent of ICRS removal occurred during the first 4 years. High myopia and pachymetry lower than 437 um were associated with visual disturbances and further management with corneal transplantation. High myopia was also associated with visual disturbances in surgeries done outside our hospital.

Topiramate-induced acute angle closure: A systematic review of case reports and case series.

Topiramate-induced acute angle closure (TiAAC) is a potentially vision-threatening side effect of topiramate (TPM) use. The purpose of this article is to review demographic characteristics, clinical features, and management options of TiAAC. A systematic literature search of all reported cases and case series of TiAAC was conducted in the following search engines: PubMed, Web of Science, Google Scholar, Elsevier, and EBSCO. Seventy-three publications describing 77 cases were included. 58 (75.3%) patients were female, and the mean age was 34.88 ± 11.21 years (range, 7-57). The most commonly reported indication of TPM use was migraine headache (59.7%), and the mean duration from starting treatment until the onset of angle closure was 14.1 ± 31.5 days. All cases were managed by immediate cessation of TPM and topical therapy. In addition, systemic medications (carbonic anhydrase inhibitors, hyperosmotic agents, and steroids) were used in 51 patients (66.2%). A laser and/or surgical intervention was performed in 10 patients (13%). After commencement of treatment, the mean duration until the resolution of TiAAC was 3.9 ± 3.6 days (range, 1-18). The findings of our study present a summary of the current body of evidence provided by case reports and case series on TiAAC. In conclusion, the onset of angle closure following TPM use peaks at 2 weeks after initiating treatment, and in most cases, successful management can be achieved by discontinuing TPM and initiating appropriate medical therapy.

Intermediate Uveitis in Retinitis Pigmentosa Associated with a Novel Homozygous Splice Site Mutation in PRPF8.

The manifestation of intermediate uveitis (IU) in patients with retinitis pigmentosa (RP) is uncommon and poses diagnostic and management challenges. In this case, we describe the clinical features and management outcomes in an RP patient with a novel homozygous splice site mutation in PRPF8. A 21-year-old male presented with unilateral decrease of vision in the right eye for 1 week. Retinal dystrophy features were present in the left eye. After 2 weeks of topical steroid therapy, near-total resolution of IU was achieved and vision improved to 20/30. Signs of (RP) were present bilaterally, with the right eye more affected than the left. Genetic testing indicated a novel homozygous c. 3061-6_3061-3del mutation in the PRPF8 gene. IU in young patients with RP can be effectively treated with a short course of topical steroids, sparing the need for systemic immunosuppressives. After the improvement in IU, the right eye showed more advanced RP changes.

Bilateral Congenital Ptosis Associated with Optic Disc Melanocytoma.

We report a rare clinical association of optic disc melanocytoma (ODM) occurring with bilateral congenital ptosis that has not been previously reported. A 28-year-old male patient presented with bilateral congenital ptosis. On examination, his vision was 20/20 in each eye, and dilated fundus examination indicated a pigmented lesion over the left inferior temporal aspect of the optic disc that was consistent with an optic nerve melanocytoma. B-scan ultrasonography indicated a calcified elevated optic nerve head. Bilateral frontalis sling procedures were performed for congenital ptosis with satisfactory results at 1 year postoperatively. There was no progression of the lesion in the left eye. Knowing the key ophthalmoscopic features of an ODM can aid in diagnosing this lesion; ophthalmologists should be familiar with this lesion in addition to the rare association of ptosis. Affected patients should be periodically assessed.

The Effect of Perioperative Uveitis Control on the Success of Glaucoma Surgery in Uveitic Glaucoma.

PURPOSE: To study the effects of perioperative uveitis control (PUC) on postoperative intraocular pressure (IOP) and uveitis activity in uveitic glaucoma (UG) patients who required glaucoma surgeries. PATIENTS AND METHODS: A retrospective chart review of 109 patients (120 eyes) which had glaucoma surgery for UG. A total of 66 eyes which had PUC were compared to 54 eyes which did not have. Measurements of IOP and uveitis activity were recorded preoperatively and over 2 years postoperatively. Average number of antiglaucoma medications and frequency of surgical failure were obtained in both groups. RESULTS: Over 2 years postoperatively, average IOP was lower in eyes which had PUC. Significant differences in IOP were found at 3 months (P = 0.004), 6 months (P = 0.001), 1 year (P < 0.001), and 2 years (P < 0.001). Lower grades of anterior chamber (AC) inflammation were found in eyes which had PUC. Significant differences were found at 1 month (P < 0.001), 3 months (P < 0.001) and 6 months (P = 0.001). Mean number of antiglaucoma medications at last visit was 0.7 ± 1.1 for eyes which had PUC and 2.6 ± 1.5 for eyes which did not have PUC (P < 0.001). Among eyes which had PUC, only two eyes required second glaucoma surgeries, while 16 eyes with no PUC required further glaucoma surgeries after 27.7 ± 12.5 months (P < 0.001). CONCLUSION: Proper PUC in patients going for UG surgeries results in lower IOP levels and less AC inflammation over 2 years postoperatively. A comprehensive PUC regimen is needed for uveitic glaucoma patients going for surgeries.

Outcomes and complications of implantable collamer lens for mild to advance keratoconus.

PURPOSE: To evaluate the outcome and safety of implantable collamer lens (ICL; (Visian, STAAR Surgical, Monrovia, CA, USA) in mild to advance keratoconus patients with myopia and myopic astigmatism. METHODS: This retrospective study evaluated all patients who underwent ICL implantation for the management of keratoconus at a tertiary care eye hospital from January 2012 to January 2018. The mean duration of follow-up was 15.3 months (range, 3.13 to 38.97 months). Data were collected on preoperative and postoperative uncorrected distance visual acuity (UDVA) and corrected distance visual acuity (CDVA), refraction was compared, and adverse effects were evaluated. RESULTS: Thirty-two eyes (32 patients) were evaluated. The median CDVA was 20/30 preoperatively and 20/20 at last follow-up. The median UDVA was 20/25 at last follow-up. Thirteen patients (40.6%) had 20/20 UDVA in comparison to none at baseline. The median spherical equivalent in diopters (D) was -7.875 D (-4.125 to -10.0 D) preoperatively and decreased to -0.3125 D at last follow-up. The median manifest refractive cylinder was 3.00 D (2.25 to 5.25 D) preoperatively and decreased to 1.125 D postoperatively. Cylinder axis rotation of 10° or greater occurred in 3 eyes (9.375%) and required repositioning of the ICL. One patient (3%) developed nonvisually significant anterior subcapsular cataract. One ICL (3.125%) had to be explanted due to residual refractive error and unsatisfactory vision. CONCLUSION: ICLs are a suitable refractive option for the correction of refractive error associated with stable, nonprogressive keratoconus even in advance cases. However, the risk of ICL rotation and subsequent repositioning remain. Careful patient selection is necessary for achieving good outcomes and mitigating intraoperative and postoperative complications.

Foveal Congenital Simple Hamartoma of Retinal Pigment Epithelium: A Report of Two Cases.

We report two cases with foveal congenital simple hamartoma of the retinal pigment epithelium (CSHRPE), as both patients presented to our retina services complaining of a unilateral decreased vision. Full ophthalmic examination and multimodal imaging were performed including fundus photography, fundus autofluorescence, optical coherence tomography, fluorescein angiography, and electrophysiological testing. Both patients presented with 20/80 vision in the affected eyes. Foveal CSHRPE was found in both eyes, along with parapapillary hyperpigmented rim, multiple pinpoint macular lesions, and few posterior pole hyperpigmented lesions. Multifocal electroretinogram showed diminished central amplitude in both eyes, with three-dimensional topography map showing blunted foveal peaks in one eye and the absence of a central peak in the other patient. Both patients had a stable vision and clinical examination of the CSHRPE during 5 and 6 years follow up, respectively. Foveal CSHRPE is usually symptomatic and results in a decline in visual acuity. Follow-up of these patients showed stable vision and clinical examination.

Updated Systematic Review and Clinical Spectrum of Peripheral Exudative Hemorrhagic Chorioretinopathy.

Peripheral exudative hemorrhagic chorioretinopathy (PEHCR) is a rare retinal vasculopathy that might cause subretinal and/or vitreous hemorrhages. Although the primary etiology is still unknown, choroidal neovascularization is mainly involved in the pathogenesis. The main risk factors are age and systemic hypertension. Ancillary testing such as fluorescein angiography, indocyanine green angiography and ultrasonography can be of great value for diagnosing this entity and distinguishing PEHCR from other lesions as choroidal melanoma and retinal vasoproliferative tumor. Various treatments have been reported including photocoagulation, cryotherapy, intravitreal injection of anti-vascular endothelial growth factor (Anti-VEGF) and surgical intervention as pars plana vitrectomy. This review handles an up-to-date perspective regarding PEHCR.

Topiramate-induced angle closure glaucoma: Two unique case reports.

The aim of this study is to report the side effects of oral topiramate in two young patients presented with bilateral ocular blurring and discomfort, causing unique development of secondary acute angle closure (AAC) after discontinuation of oral topiramate. Both patients, with a history of seizure and migraine, respectively, were taking oral topiramate to control their mentioned diseases. Both had secondary AAC and high intraocular pressure, after discontinuing topiramate. They were treated with topical medications and underwent initial and subsequent multimodal imaging to track up their response to the management. Ocular side effect, during topiramate use and possibly even after discontinuation, will improve early detection of secondary AAC. Topical management along with multimodal imaging of such cases can give optimal results.

Primary congenital glaucoma: An updated review.

Primary congenital glaucoma (PCG) is a rare disease affecting children early in life. PCG was considered untreatable with inevitable blindness. However, recent advances in biochemical and genetic studies, the introduction of new diagnostic tools, intraocular pressure (IOP) lowering medications and improvement of surgical techniques have led to a better understanding of this devastating disease and preserving the vision of affected children. This paper presents an updated and broad overview of PCG in terms of the epidemiology and genetic aspects, particularly in Saudi Arabia, the clinical presentation and diagnostic approach to PCG with major emphasis on the treatment options.

Sequence analysis of four vitamin D family genes (VDR, CYP24A1, CYP27B1 and CYP2R1) in Vogt-Koyanagi-Harada (VKH) patients: identification of a potentially pathogenic variant in CYP2R1.

BACKGROUND: VKH is a rare autoimmune disease. Decreased level of vitamin D has recently been found to be involved in the pathogenesis of Vogt-Koyanagi-Harada (VKH) disease. This study was designed to screen the vitamin D pathway genes for pathogenic mutations, if any, in VKH patients. METHODS: Genomic DNA was extracted from blood samples collected from patients with VKH disease and healthy controls. Entire coding region, exon-intron junctions of four genes were sequenced in DNA from 39 Saudi VKH patients and 50 ethnically matched healthy individuals. All patients and controls were unrelated. RESULTS: Vitamin D levels in VKH patients were found either insufficient (21-29 ng/mL) or deficient (<20 ng/mL). Sequencing analysis of the VDR, CYP24A1, CYP27B1 and CYP2R1 detected twelve nucleotide changes in these genes in our cohort of 39 patients; 4 of which were non-coding, 6 were synonymous coding and 2 were non-synonymous coding sequence changes. All synonymous coding variants were benign polymorphisms with no apparent clinical significance. A non-synonymous coding sequence variant (c.2 T > C; p.1Met?) found in VDR is an initiation coding change and was detected in control individuals as well, while another variant (c.852G > A; p.284 M > I) found in CYP2R1 is predicted to be disease causing by mutationtaster software. This potentially pathogenic variant was found in 17 out of 39 VKH patients. CONCLUSIONS: Screening of four Vitamin D pathway genes in 39 VKH patients shows that a potentially pathogenic sequence variant in CYP2R1 may cause VKH in a subset of patients. These findings support the previous observation that low vitamin D levels might play a role in VKH pathogenesis and mutations in genes involved in vitamin D anabolism and catabolism might be of importance in VKH pathobiology.