A Case of Bilateral Microphthalmia and Extensive Colobomas of the Globes Associated with a Likely Pathogenic Homozygous SIX6 Variant.

Colobomas of the globe and microphthalmia are congenital conditions that can strongly affect vision. Etiologies are varied and include embryonic and hereditary origins. We report what is, to the best of our knowledge, the first case of a SIX6 gene pathogenic variant associated with a phenotype of both bilateral microphthalmia and extensive colobomas of the globes. A 3-week-old boy presented with bilateral microphthalmia and iris, optic nerve, and chorioretinal colobomas. Genetic analysis was performed on a panel of 78 genes (microphthalmia, anophthalmia, and coloboma panel), and a homozygous likely pathogenic variant was identified in the SIX6 gene, resulting in the loss of the initiator methionine. Thus, our report expands the phenotypic spectrum of SIX6-related disorders.

Risk factors for epiretinal membrane formation and peeling following pars plana vitrectomy for primary rhegmatogenous retinal detachment, an OCT guided analysis.

BACKGROUND: To evaluate the rate and risk factors of epiretinal membrane (ERM) formation and need for ERM peeling after pars plana vitrectomy (PPV) for uncomplicated primary rhegmatogenous retinal detachment (RRD). METHODS: Retrospective, single-center, cohort study of 119 consecutive patients (119 eyes) that underwent RRD repair using PPV. The primary outcomes were ERM formation, classified using an optical coherence tomography grading system, and the rate of ERM peeling. Visual acuity, postoperative complications, and risk factors for ERM formation and peeling were also identified. RESULTS: Postoperative ERM formation occurred in 69 eyes (58.0%); 56 (47.1%) were stage 1, 9 (7.6%) stage 2, 3 (2.5%) stage 3, and 1 (0.8%) stage 4. Only 6 (5.0%) eyes required secondary PPV for a visually significant ERM, with a mean time to reoperation of 488 ± 351 days. Risk factors for ERM formation included intraoperative cryotherapy, more than 1000 laser shots, 360° laser photocoagulation, and choroidal detachment (p < 0.01). Eyes with more than 3 tears had a trend towards increased ERM surgery (p = 0.10). CONCLUSIONS: Visually significant ERM formation following PPV for primary RRD was uncommon in this cohort (5%). Half of the ERMs were detected after the first post-operative year, indicating that this complication may be underreported in studies with only 1-year follow-up.

Enophthalmos as the Initial Systemic Finding of Undiagnosed Metastatic Breast Carcinoma.

PURPOSE: To report on the importance of detecting and investigating non-traumatic enophthalmos, which occurred as the first presenting sign of an undiagnosed metastatic breast carcinoma in two patients with no prior history of neoplasia. DESIGN: Case series. OBSERVATIONS: The first case consists of a 74-year-old woman with no significant past medical history, who presented with a non-traumatic enophthalmos and ptosis of her left eye, and horizontal diplopia on right-gaze. Imaging revealed an intraconal lesion of her left orbit, with orbital fat atrophy. Transcutaneous anterior orbitotomy was performed for tumor biopsy, and the histopathology study concluded on a diagnosis of orbital metastasis consistent with infiltrative breast carcinoma. Thorough breast imaging and multiple breast biopsies were not able to localize the primary tumor. The second case consists of a 76-year-old woman, with no prior relevant medical history, who presented for progressive enophthalmos and ptosis of her right eye. Imaging revealed an osteolytic lesion of her right frontal bone, and multiple infiltrative lesions implicating both orbits. A biopsy was performed through a transcutaneous anterior orbitotomy and histopathology study lead to a diagnosis of metastatic lobular breast carcinoma. The primary breast tumor was localized using positron emission tomography, and further biopsy confirmed the diagnosis. CONCLUSION: Although uncommon, non-traumatic enophthalmos has a broad differential diagnosis. In some rare instances, it may be the initial presentation of orbital metastases in patients with no prior history of cancer, and in the absence of other systemic symptoms. Clinicians must be thorough when assessing and investigating this clinical entity. A comprehensive eye exam, systemic evaluation, orbit imaging, biopsy and immunohistochemistry analysis are essential to promptly diagnose orbital metastases and plan the appropriate treatment.

Endogenous Tuberculous Endophthalmitis and Panophthalmitis: A Systematic Review of Case Reports and Case Series.

PURPOSE: To systematically review the characteristics of patients with endogenous tuberculous (TB) endophthalmitis and panophthalmitis in an effort to help clinicians with diagnosis and treatment. PATIENTS AND METHODS: We conducted a systematic literature search in MEDLINE/PubMed, EMBASE and Web of Science from inception to August 2020. References and abstracts were screened independently by two authors. Included studies were case reports and case series reporting endogenous TB endophthalmitis and panophthalmitis secondary to Mycobacterium tuberculosis complex (MTBC). Available-case analysis was employed to handle missing data. RESULTS: A total of 1343 articles were found using the search strategy. Following abstract screening, 51 articles were selected for full text-review, from which 26 were deemed eligible for inclusion in the study. Forty-four cases from 26 articles were included in the quantitative analysis. The median age of presentation was 29.5 (range: 1 to 81), and 11/44 patients (25.0%) were pediatric. Immunosuppression was seen in 9/36 cases (25.0%). Most patients (24/38, 63.2%) had no prior history of tuberculosis. Systemic symptoms were absent in half of the patients (16/32, 50.0%). Visual acuity was poor, with 23/27 cases (85.2%) being 20/200 or worse at presentation. Poor organ and visual outcomes were reported: 36/43 cases (83.7%) resulted in enucleation/evisceration or exenteration. Intraocular tumors were suspected in 5/34 cases (14.7%). Pulmonary tuberculosis was seen in 15/35 cases (42.8%), and miliary tuberculosis was seen in 7/35 cases (20.0%). The earliest source of TB diagnosis was through histopathologic specimen after eye removal in 32/44 cases (72.7%), vitreous specimen in 6/44 cases (13.6%) and aqueous specimen in 3/44 cases (6.8%). CONCLUSION: TB endophthalmitis is a rare and sight-threatening manifestation of ocular tuberculosis. It can occur in apparently healthy individuals and can mimic intraocular tumors and other infectious etiologies. Diagnosis remains a significant challenge, which, often delayed, leads to profound visual loss. Early detection and treatment of intraocular tuberculosis may be associated with better ocular and systemic outcomes.

Vitreoretinal Surgery in the Post-Lockdown Era: Making the Case for Combined Phacovitrectomy.

The coronavirus disease (COVID-19) pandemic has significantly limited the capacity of healthcare systems to provide elective services like cataract surgery. Cataract formation is a frequent complication after pars plana vitrectomy. In this paper, we review the pros and cons of combined phacovitrectomy as opposed to sequential surgery in the post-pandemic era. In particular, we discuss the patient-level visual benefits and societal economic advantages of this procedure.

Long-Term Visual Outcomes for a Treat-and-Extend Antivascular Endothelial Growth Factor Regimen in Eyes with Neovascular Age-Related Macular Degeneration: Up to Seven-Year Follow-Up.

PURPOSE: To report long-term visual and anatomical outcomes in eyes with neovascular age-related macular degeneration (nAMD) treated with a treat-and-extend regimen (TER) of intravitreal antivascular endothelial growth factor (anti-VEGF) injections in real-world settings. METHODS: Retrospective cohort study of consecutive patients with nAMD treated with a TER of anti-VEGF intravitreal injections by a single retina specialist (GC). Patients with nAMD who had at least one year of follow-up were identified using an electronic database. Best-corrected visual acuity (BCVA), comprehensive ophthalmologic examination, and macular OCT were performed at each visit. Patients received a loading dose of three monthly intravitreal injections and then were treated according to a TER of bevacizumab, ranibizumab, and/or aflibercept. The number of injections, BCVA, and central retinal thickness (CRT) were evaluated during the follow-up period. RESULTS: 180 eyes from 180 patients were included in the study. Mean age was 75 ± 9 (range: 51-96). Mean BCVA was 0.77 ± 0.64 LogMAR at baseline, 0.69 ± 0.58 LogMAR (p = 0.0057) after loading phase, 0.64 ± 0.55 LogMAR (p = 0.0001) after 6 months of TER, and 0.76 ± 0.71 LogMAR after 6 years of treatment (n = 32 at year 6). CRT decreased significantly after the loading phase (p = 0.0002). The mean number of intravitreal injections per year was 7.6 during the first three years of treatment and then decreased to 5.9 during year 4 to 7. CONCLUSIONS: This retrospective study of 180 nAMD patients treated with a TER of intravitreal anti-VEGF demonstrates an initial improvement of BCVA after loading phase, followed by long-term visual stabilization for at least six years. These results were obtained with a high number of injections, averaging close to six injections per year during long-term follow-up. In light of the natural evolution of nAMD, these data support the long-term efficacy of this treatment under real-world conditions of heterogeneity of patients and type of anti-VEGF used.

Displacement of Retained Subretinal Perfluorocarbon Liquid Through Therapeutic Retinal Detachment Induced by Balanced Salt Solution Injection.

PURPOSE: To report a case of displacement of retained subretinal perfluorocarbon liquid (PFCL) through therapeutic retinal detachment (RD) induced by balanced salt solution (BSS) injection. METHODS: This is a surgical case report. We present a case of a 61-year-old woman who presented with subretinal PFCL at the papillo-macular bundle with best-corrected visual acuity (BCVA) of 20/200 at four weeks following RD surgery in her right eye. She underwent a three-port pars plana vitrectomy with therapeutic RD of a portion of the posterior pole and inferior periphery induced by BSS injection, followed by complete air-fluid exchange, and kept an upright position for three days to force the displacement of the PFCL bubble towards the inferior retinal periphery. BCVA assessment, dilated fundus examination (DFE), and optical coherence tomography (OCT) were performed before and after the surgery. RESULTS: Two weeks after the procedure, BCVA improved to 20/40, the subretinal PFCL was not visible on DFE, and a control OCT confirmed displacement of the PFCL bubble with atrophy at the papillo-macular bundle. There were no complications. CONCLUSION: Displacement of retained subretinal PFCL through therapeutic RD induced by BSS injection seems to be an effective technique with fewer potential complications in comparison to the more traditional approach of removal by direct aspiration.