FAMILIAL EXUDATIVE VITREOTINOPATHY-LIKE FEATURES IN STICKLER TYPE IV ASSOCIATED WITH NOVEL VARIANTS IN COL9A1.

BACKGROUND/PURPOSE: To report a case of Stickler Type IV with familial exudative vitreoretinopathy phenotype. METHODS: Retrospective case report. RESULTS: A 24-year-old woman presented with right eye exotropia and decreased vision. She had no facial or typical retinal features of Stickler syndrome but complained of right-sided hearing loss and right-sided neck pain. Examination of the right eye showed a chronic combined exudative and traction retinal detachment with temporal retinal dragging associated with far temporal retinal exudations and fibrovascular proliferations. The left eye had an attached retina with large areas of peripheral temporal retinal nonperfusion on fluorescein angiography, sharply demarcated by end circulation vascular pruning and mild peripheral vascular leakage, consistent with familial exudative vitreoretinopathy phenotype. Genetic analysis identified two heterozygous c.1052C>A and c.1349A>G variants in COL9A1, but did not disclose any mutation in genes classically associated with familial exudative vitreoretinopathy. CONCLUSION: Familial exudative vitreoretinopathy-like retinal vascular features can be the presenting sign in patients with Stickler syndrome Type IV.

INADVERTENT GLOBE PENETRATION AND SUBRETINAL INJECTION OF BOTULINUM TOXIN IN A PATIENT WITH OCULOCUTANEOUS ALBINISM.

PURPOSE: To present a case of localized retinal detachment and mild vitreous hemorrhage in a patient with oculocutaneous albinism after accidental intraocular injection of botulinum toxin A. METHODS: Botulinum toxin A injection was administered to a 5-year-old patient with oculocutaneous albinism with esotropia and resulted in an ocular penetration. Dilated fundus examination indicated a nasal retinal tear causing a mild vitreous hemorrhage and a localized retinal detachment. RESULTS: No treatment was required for the retinal detachment, and we observed the patient at regular intervals. On Day 1, the detachment resolved spontaneously without sequelae. On follow-up, scarring at the lesion site was detected at one month after the incidence, and the patient's vision was stable. CONCLUSION: In this instance, observation was sufficient for our patient with complete resolution of retinal detachment and no long-term complication. Botulinum toxin A did not seem toxic to intraocular tissues. However, intramuscular botulinum toxin A injection should be administered carefully. Oculocutaneous albinism did not seem to affect the final outcome in our case.

Retinal periphlebitis associated with branch retinal vein occlusion and complicated by subfoveal hemorrhage: a case report.

Retinal periphlebitis is a subtype of retinal vasculitis affecting the retinal veins. We report a case of bilateral branch retinal vein occlusion (BRVO) associated with idiopathic retinal periphlebitis and complicated by subfoveal hemorrhage (SFH). An 18-year-old woman presented with best-corrected visual acuity of 20/20 in the right eye and 20/30 in the left eye. Examination revealed bilateral retinal vascular sheathing predominantly involving the retinal veins and bilateral BRVO. Fundus fluorescein angiography revealed localized vascular leakage in the right eye and diffuse vascular leakage in the left eye. Spectral-domain optical coherence tomography showed mild nasal thickening with subfoveal fluid in the left eye. Oral steroids were started on a tapering dosage as well as oral methotrexate. A year later, she presented with regressed vascular sheathing in both eyes with 5/200 vision and SFH in the left eye. Pars plana vitrectomy, subretinal tissue plasminogen activator, intravitreal ranibizumab, laser photocoagulation, and gas injection were performed. The SFH resolved and the visual acuity improved to 20/100. Good vision was preserved in both eyes with no active inflammation. Timely management of SFH in idiopathic retinal periphlebitis can achieve a favorable visual outcome.

Uveitic Granulomas Masquerading as Ocular Tumors.

Introduction: Solitary uveal lesions confer a diagnostic challenge to ophthalmologists. Uveitic lesions most abundantly appear amelanotic and commonly involve the choroid. Most amelanotic choroidal lesions are either neoplastic or inflammatory in origin. In our study, we aimed to describe six uveitic granuloma cases, which were referred to a tertiary ophthalmology center as intraocular tumors. Methods: Retrospective chart review of 6 patients (7 eyes) who had uveitic granulomas and were referred to a tertiary ophthalmology center as having intraocular tumors. Results: Mean age on presentation was 47 ± 12.5 years. One lesion was involving the ciliary body only, five lesions had pure choroidal involvement, and one had ciliochoroidal involvement. Mean visual acuity on presentation was 1.7 ± 0.75 (Snellen = 20/1,000) and ranged from 20/80 to light perception. Mean basal diameter of all lesions was 7.7 ± 1.8 mm. Three lesions had moderate echogenicity, two lesions were low to moderate echoic, and one lesion had moderate to high echogenicity on ultrasonography. Three lesions were associated with retinal detachments. Five eyes showed an early hypofluorescence with late hyperfluorescence. Leakage of fluorescein at borders was noticed in 3 lesions. Final diagnosis was presumed intraocular tuberculosis in 4 patients, probable ocular sarcoidosis in 1 patient, and idiopathic solitary uveitic granulomas in 1 patient. Upon treatment, the vision improved to 0.3 ± 0.27 (Snellen = 20/40) and ranged from 20/20 to 20/100 after 4.7 ± 2.9 years of follow-up. Conclusions: Uveitic granulomas can demonstrate features of ocular tumors. Proper uveitis management leads to a favorable visual outcome and ocular preservation.

Adjunctive Intravitreal Triamcinolone Acetonide for Exudative Retinal Detachment in Coats Disease.

Purpose: This work aims to assess the value of intravitreal triamcinolone acetonide (IVTA) as an adjunctive therapy in advanced Coats disease with exudative retinal detachment (ERD). Methods: A retrospective review was conducted of patients with Coats disease stage 3 or higher who received IVTA to decrease subretinal fluid (SRF), facilitate retinal ablative therapy, and avoid surgical drainage. Primary outcomes were SRF resolution and avoidance of surgical SRF drainage. Results: Seventeen eyes of 17 patients (mean, [SD] age, 3.9 [3.4] years) met the inclusion criteria. ERD configuration was bullous in 7 and shallow in 10 eyes. Following a single IVTA injection, ablative therapy was achieved after a mean (SD) of 2.1 (3.0) weeks. Complete SRF resolution was observed in 13 eyes (76.4%) after a mean of 1.3 IVTA injections and a mean of 2 (SD, 1.27) laser sessions, and none of these eyes required SRF drainage up to last follow-up (mean [SD], 50.5 [26.24] months). In 4 eyes with bullous ERD at presentation, SRF persisted (P = .015) despite additional measures including surgical drainage. Final visual acuity ranged from 20/100 to no light perception. Cataract developed in 12 of the 17 eyes (70.5%). None developed an increase in intraocular pressure at final follow-up. Conclusions: IVTA injection can be a helpful adjunctive modality to address SRF in advanced Coats disease. It may obviate the need to surgically drain SRF to effectively treat the condition, particularly when the ERD is not highly bullous.

Comparison of heads up three dimensional visualization system to conventional microscope in retinopathy of prematurity related tractional retinal detachment.

To report the outcomes, advantages and disadvantages of a heads-up three-dimensional (3D) visualization system compared to the conventional microscope in pediatric tractional retinal detachment (TRD) surgery secondary to advanced stage retinopathy of prematurity (ROP). Medical records of patients with ROP stage 4 or 5 who underwent surgery for tractional retinal detachment at King Khaled Eye Specialist Hospital between September 2017 and July 2019 were identified and reviewed. Eyes were divided into 2 groups, eyes that underwent surgery with a 3D heads-up platform (3D group) and eyes that underwent surgery with a conventional microscope (conventional group). Data were collected on neonatal history, visual acuity, intraoperative complications and success rates between groups.Eighteen eyes of 14 patients who underwent surgical repair of TRD related to ROP. Postoperative outcomes were compared between 10 eyes (7 patients) in the 3D group and 8 eyes (7 patients) in the conventional group There was no statistically significant difference in success rate between both groups (75% conventional group vs 70% 3D group). Partial or complete reattachment was achieved in 7 eyes in 3D group compared to 6 eyes in conventional group. Lower postmenstrual age at the time of the first surgery and presence of retinal breaks were associated with poorer surgical outcome. Heads up 3D visualization system is feasible in tractional retinal detachment related to ROP with similar success rate and no increased risk of complications when compared to conventional microscope. This system may be advantageous in advanced pediatric tractional retinal detachment surgeries.

Iris Melanocytoma in a Child: Clinical and Histopathological Findings.

BACKGROUND Melanocytoma is rare and can affect any part of the uveal tract. In rare cases, iris melanocytoma shows signs of growth, with extrascleral extension that mimics melanoma. This phenomenon makes clinical differentiation between the 2 pathologies particularly challenging. CASE REPORT A 3-year-old boy presented with recurrent ocular inflammation. Examination revealed a large, solid, homogenous mass in the inferior quadrants of the iris, with secondary localized corneal edema. The lesion did not extend to the ciliary body and fundus examination showed no lesions in the posterior segment, including the head of the optic nerve. The patient underwent a sectoral iridocyclectomy and excisional biopsy of the lesion in the iris. Histopathology of the lesion confirmed the diagnosis of iris melanocytoma. CONCLUSIONS The differential diagnosis for a mass in the iris is broad, ranging from benign cysts to melanoma, which is a life-threatening ocular condition. An iris melanocytoma always should be considered in the differential of these masses, despite their exceedingly low incidence. Although iris melanocytoma mainly manifests in patients who are middle-aged or older, it should be suspected in young children, as underscored by the present report.

Incidence, Risk Factors and Surgical Outcomes of Cataract among Patients with Vogt-Koyanagi-Harada Disease.

Purpose: To investigate risk factors and surgical outcomes of cataract in Vogt-Koyanagi-Harada (VKH) disease.Methods: Review of 187 patients (374 eyes).Results: At presentation, cataract was diagnosed in 56 (14.9%) eyes all had chronic recurrent VKH. During follow-up, cataract developed in additional 51 (13.6%) eyes. Fifteen (13.6%) of these had initial-onset acute VKH with anterior segment (AS) inflammation and 36 (19.4%) had chronic recurrent VKH. No patient with initial-onset acute VKH without AS inflammation developed cataract. Risk factors for cataract development during follow-up included female gender, keratic precipitates, anterior chamber reaction ≥2+, chronic recurrent VKH, posterior synechiae, iris nodules, glaucoma, glaucoma surgery, choroidal neovascular membrane, "sunset glow fundus" and chorioretinal atrophy. Thirty-two eyes underwent cataract extraction. Fourteen (43.8%) eyes achieved ≥20/40. Posterior segment complications of chronic recurrent VKH accounted for <20/40 outcome.Conclusions: Poor outcome after surgery is secondary to posterior segment complications of chronic recurrent VKH.

Long-term resolution of chronic macular edema after a single dose of intravitreal dexamethasone in familial retinal arterial macroaneurysm.

PURPOSE: To report a favorable effect of intravitreal dexamethasone implantation in Familial Retinal Arterial Macroaneurysms (FRAM). METHODS: Retrospective Case Report. RESULTS: A 32-year-old male who presented with bilateral retinal macroaneurysms. Whole Exome Sequencing (WES) revealed a homozygous c.830-1 G > A mutation in Insulin Growth Factor Binding Protein 7 (IGFBP7) gene, confirming the diagnosis FRAM. The left eye was lost in the course of the disease, whereas the right eye developed a persistent macular edema due to multiple leaking retinal arterial macroaneurysms and responded poorly to intravitreal ranibizumab and only partially to intravitreal aflibercept. Intravitreal dexamethasone implantation in the right eye, on the other hand, resulted in marked visual and structural improvement. CONCLUSION: Intravitreal dexamethasone injections have beneficial anatomical and visual outcomes in FRAM patients with persistent macular edema poorly responsive to intravitreal injections.

Spontaneous glaucoma drainage device extrusion after early postoperative orbital cellulitis - Case report and literature review.

A 70-year-old glaucoma patient who underwent Ahmed Glaucoma Valve (AGV) implantation developed orbital cellulitis (OC) 5 days postoperatively. On presentation, the valve was not exposed and no intraocular involvement was noted. After successful treatment of OC with intravenous and oral antibiotics, the patient presented to the clinic with the AGV completely extruded from the eye. There are only 10 previous cases of OC reported in the literature following glaucoma drainage device (GDD) implantation and no previous reports of spontaneous AVG extrusion. Close observation and thorough evaluation of the tube and plate positions are warranted to achieve better outcomes.

Ocular coherence tomography for the diagnosis of Descemet's detachment after deep sclerectomy and resolution after intracameral air injection.

PURPOSE: to report the use of optical coherence tomography (OCT) in a case of Descemet's membrane detachment (DMD) secondary to a nonpenetrating deep sclerectomy (NPDS) and the efficacy of intracameral air injection for management. OBSERVATIONS: DMD was identified by anterior segment OCT (AS-OCT) in a 61-year-old male patient who was blind in the right eye and had advanced open angle glaucoma. This patient underwent NPDS in the left eye and developed localized corneal edema postoperatively. Air was injected into the anterior chamber resulting in reattachment of Descemet's membrane and resolution of corneal edema. CONCLUSIONS AND IMPORTANCE: This case highlights the need for a high suspicion of DMD in cases of localized corneal edema after non-penetrating surgery. Following confirmation with AS-OCT, DMD can be successfully managed with air injection. DMD is a rare complication of NPDS with all the reported cases associated with implant. To the best of our knowledge, this is the first case report of NPDS without any type of implant.