Rene Moya

South America comprises of heterogeneous topographies, populations, and health care systems. Therefore, it is not surprising to see differences among the countries regarding expertise, education, and practices of ophthalmic genetics for patients with rare eye diseases. Nevertheless, common challenges such as limited genetics training in medical schools and among ophthalmologists, scarcity of diagnostic tools for phenotyping, and expensive genetic testing not covered by the public healthcare systems, are seen in all of them. Here, we provide a detailed report of the current status of ophthalmic genetics, described by the personal views of local ophthalmologists from Brazil, Colombia, Argentina, and Chile. By reporting our strengths and weaknesses as a region, we intend to highlight the need for guidelines on how to manage these patients aligned with public health policies. Our region contributes to research worldwide, with thousands of well diagnosed patients from a number of unique and genetically diverse populations. The constant expansion of ophthalmic genetics and molecular diagnostics requires us to join forces to collaborate across South America and with other countries to improve access to next‐generation diagnostics and ultimately improve patient care.

Objectives To describe, evaluate, and identify the characteristics, prognostic factors, and visual outcomes in patients with intraocular foreign body (IOFB) in a Latin American population. Methods A retrospective, observational case-series of patients with a diagnosis of IOFB. Variables analyzed included age, gender, initial and final best correct visual acuity (BCVA), ocular trauma score, intraocular pressure, mechanism of injury, material and number of IOFB, zone of injury, timing of primary repair and IOFB removal, complications, and follow up. Results Sixty-one patients with IOFB were identified of which 97% were male with a mean age of 37.9 years (SD 2.16). The most common IOFB location was intravitreal (43%). IOFBs were metallic in 78%, vegetal in 3%, and other materials in 11%. Primary repair and secondary IOFB removal were performed at a mean timepoint of 3 days and 5 days, respectively. Systemic and topical antibiotics were administered to all patients. The initial BCVA was 1.62 logMAR and the final was 0.6 logMAR, which was statistically significant (Pearson’s chi-squared test, p value 0.01). No cases of endophthalmitis were seen. Conclusion IOFB removal can be delayed when there are no signs of infection or evidence of retinal detachment, without an increased risk of endophthalmitis and a negative impact on visual outcomes. Use of topical and systemic antibiotics appear sufficient to prevent endophthalmitis in these cases.

Ligneous conjunctivitis is an uncommon and recurrent type of chronic conjunctivitis. A prevalent cause of this disease is a Plasminogen deficiency, resulting from recessive mutations in the human encoding plasminogen (PLG) gene. This deficiency affects the conjunctiva and also other mucous membranes. Only few hundred cases have been reported in the literature. Here we report a case of a 9-year-old boy with diagnosis of ligneous conjunctivitis. Histopathological examination in hematoxylin–eosin (HE) staining and sequencing of PLG gene were performed to confirm diagnosis. Histopathological findings confirmed the diagnosis of ligneous conjunctivitis. The patient is compound heterozygous for c.1026T>G (p.Val342Gly) and c.2384G>C (p.Arg795Pro) mutations in PLG gene. Both mutations have not been described previously, and the bioinformatic analysis strongly suggests that are causative of the disease. To the best of our knowledge, this is the first case report of a Chilean patient with ligneous conjunctivitis.

Purpose: Reported 5-year survival rates in patients undergoing vitreous surgery for proliferative diabetic retinopathy (PDR) range from 68–95%. Studies relating survival rates to medical baseline characteristics predate the millennium. This study aimed to update data on life expectancy of patients undergoing vitrectomy for PDR and identify baseline factors which may influence survival. Methods: A retrospective cohort study of consecutive patients who underwent their first pars-plana vitrectomy for PDR between April 2004 and May 2005 was performed. Survival status on 1 May 2012 was the primary endpoint. The Kaplan-Meier life table method was used to determine survival rates. Univariate and multiple variable Cox proportional hazards regressions were used to identify risk factors for mortality. Results: A total of 148 patients were included in the study, with a mean age of 54 years (range 20–80 years) at time of surgery. The 3-, 5- and 7-year survival rates were 94%, 86% and 77%, respectively (95% confidence interval, CI, 88–97%, 79–91% and 68–84%, respectively). Renal failure was the most common cause of death. The presence of limb ulcers at baseline was the most important prognostic indicator for mortality, with a hazard ratio of 3.13 (95% CI 1.46–6.71, p = 0.003) and a survival rate at 5 years reduced to 79%. Conclusion: The 5-year survival rate remains comparable to those reported 20 years ago despite a lowering in threshold for vitrectomy and increased health awareness. Limb ulcers are strongly associated with increasing mortality. Clinicians should remain mindful of the systemic associations of diabetes particularly in advanced retinal disease.

To assess the incidence and clinical features of unexpected visual loss after removal of silicone oil (ROSO). A retrospective cross-sectional observational study of 421 consecutive eyes, which underwent silicone oil removal at one institution over a 2-year period. Fourteen (3.3%) patients, (12 male, mean age of 53.1 years) suffered unexplained visual loss. In these eyes, the mean duration of silicone oil fill was 141 days (range 76-218). The mean loss of visual acuity was 3.7 (range 2-6) Snellen lines (SL) at 1 month, 3.5 (2-6) SL at 3 months and 2.91 (0-6) SL at 6 months. The change from preoperative visual acuity was statistically significant at all visits (P=0.02). Subgroup analysis of 20 fovea-sparing giant retinal tear (GRT) detachments, observed 10 (50%) cases of visual loss after ROSO. Electrodiagnostic testing suggested predominantly macular dysfunction, with optic nerve involvement in one case. Five of the 14 cases had variable recovery of vision. There is a 3.3% overall incidence of visual loss following ROSO with a high rate (50%) observed in maculae on GRT detachments. Although recovery of visual acuity is seen in a minority of cases, visual loss after ROSO remains a serious and unexplained concern for vitreoretinal surgeons.

To evaluate the anatomical outcomes of primary scleral buckling (SB) procedures for pediatric rhegmatogenous retinal detachments. Retrospective consecutive case series. One hundred and four eyes of 99 consecutive nonselected pediatric patients undergoing primary SB were identified. Baseline factors recorded were demographics, presenting clinical examination findings, previous ocular surgery, predisposing factors. Intraoperative factors recorded were the type of buckle, number and distribution of retinal breaks, number of retinal quadrants detached, macular status (involved vs. uninvolved), the use of subretinal fluid drainage, and surgical complications. Anatomical reattachment rate at last follow-up. Subgroup analysis was carried out to identify any predisposing factors for failure of primary surgery, effect of age on outcome, intraoperative pathology, effect of posterior versus anterior SB, and redetachment and secondary-procedure complications specific to SB. The initial surgery was segmental SB alone in 87 eyes (83.6%). Retinal reattachment was achieved with 1 operation in 73% (76 of 104 eyes). Of the 28 cases that redetached, 14 eyes underwent a repeat SB procedure (success rate of this second operation: 85.7% [12 of 14 eyes]), 13 eyes underwent vitrectomy (success rate of this second operation: 38.4% [5 of 13 eyes]), and 1 case was not reoperated. Overall, the final success rate was 94% (98 of 104 eyes). Factors associated with a statistically significant increased risk of failure included more than one break; three or more quadrants of detachment; horseshoe tears; no breaks seen on preoperative examination; Stickler syndrome. In selected cases, primary SB is an effective treatment for pediatric, rhegmatogenous retinal detachment.