Early-Onset Myopia and Retinal Detachment without Typical Microcoria or Severe Proteinuria due to a Novel LAMB2 Variant.

PURPOSE: To describe the ocular and renal features, as well as outcomes of retinal detachment repair, in patients with a novel, homozygous laminin ß-2 (LAMB2) pathogenic variant. DESIGN: Single-center retrospective chart review of patients with a homozygous variant, c.619T>C p.(Ser207Pro), in the LAMB2 gene. SUBJECTS: Eleven patients (22 eyes) from 4 families. METHODS: Demographic data and ocular findings were recorded. Patients were recalled for a detailed renal evaluation. MAIN OUTCOME MEASURES: Ocular features, renal features, and outcomes of retinal detachment repair. RESULTS: The mean age at presentation was 6.0 (range, 1-26) years. None of the study eyes had microcoria, and none of the patients had nephrotic-range proteinuria. The mean refraction and axial length were -7.9 diopters (range, -4.0 to -12.0 diopters) and 25.3 (range, 22.7-27.7) mm, respectively. Eleven eyes (50%) had cataract at presentation. Fifteen eyes had a clear view to the fundus and all showed tessellated myopic fundus, avascular peripheral retina evident clinically or on fluorescein angiography, and rudimentary fovea. Optic disc pallor was observed in 10 eyes (66.7%). Straightened retinal vessels, abnormal vascular emanation (situs inversus) from the optic disc, supernumerary vascular branching at the optic disc, and vascular tortuosity were observed in 10 (66.7%), 2 (13.4%), 2 (13.4%), and 2 (13.4%) eyes, respectively. Discrete areas of punched-out chorioretinal atrophy were observed in 4 (26.7%) eyes. Spectral-domain OCT showed retinal and choroidal thinning in 13 eyes (86.7%), retinoschisis temporal to the fovea in 2 eyes (13.4%), and rudimentary fovea in 15 eyes (100%). Among the 22 eyes, 14 eyes (63.6%) developed rhegmatogenous retinal detachment (RRD), mostly during childhood, of which 5 patients had bilateral RRD. Eight eyes were operated on and 6 (75%) achieved retinal reattachment at the last follow-up. The mean preoperative visual acuity was 20/300 and the mean postoperative visual acuity at the last follow-up was 20/400. CONCLUSIONS: This study describes a distinct phenotype of LAMB2-related disease with a novel, homozygous LAMB2 variant, and further expands the spectrum of ophthalmic and renal features, and the molecular genetic basis, of LAMB2-related disease. Because the typical microcoria and nephrotic-range proteinuria might be absent, the retinal features can guide the diagnosis. FINANCIAL DISCLOSURE(S): The authors have no proprietary or commercial interest in any materials discussed in this article.

The Role of Preoperative Case Selection in the Training of Surgical Repair of Primary Rhegmatogenous Retinal Detachment.

Purpose: To analyse single-operation anatomical success (SOAS) of primary rhegmatogenous retinal detachment (RRD) repair by junior vitreoretinal surgeons guided by preoperative individual case selection by an experienced mentor vitreoretinal surgeon. Methods: Retrospective, single institute, observational study, included all patients who underwent standard pars plana vitrectomy (PPV) or combined encircling band (CB) and PPV and gas tamponade in the treatment of RRD from November 2021 to December 2022 were included. Preoperative selection for the surgery decision, whether standard PPV or combined CB & PPV was undertaken through the senior surgeon; according to the location and extensions of the RRD, number of retinal tears (RT) and lens status. We excluded patients with tractional retinal detachment, RD with proliferative vitreoretinopathy stage C, giant tears, trauma, previous scleral buckle, schisis RD and RD requiring silicone oil. The primary outcome measure was to evaluate the single-operation anatomic success (SOAS). Secondary outcome measures evaluated whether there was a statistical significant difference between both procedures. Results: Eighty-two eyes were included in the study. Forty-five eyes were selected for combined CB&PPV and 37 eyes for standard PPV. SOAS was achieved in 40 eyes (88.8%) in combined group and 35 eyes (94.5%) in standard PPV group. There was no statistically significant difference in the success rate between both operations, p = 0.65. Conclusion: Structured preoperative selection of standardized surgical techniques according to the degree of complexity of RD together with close supervision enables junior vitreoretinal surgeons in training to achieve re-attachment rates of more than 80% with both types of surgeries.

Outcomes Of Microincision Pars Plana Vitrectomy In Rhegmatogenous Retinal Detachment.

BACKGROUND: With the technological advances, microincision pars plana vitrectomy is commonly used method for primary treatment of eyes with rhegmatogenous retinal detachment. Objective of this study is to evaluate anatomical and visual outcomes of microincision pars plana vitrectomy in eyes with rhegmatogenous retinal detachment. METHODS: This was a hospital based prospective observational study done in Tilganga Institute of Ophthalmology, Kathmandu, Nepal. All consecutive cases of rhegmatogenous retinal detachment who underwent primary microincision pars plana vitrectomy from October 2020 to March 2021 were included in the study. Patients were evaluated at baseline, postoperative day 1, 1 week, 6 weeks and 3 months. Outcome measures evaluated were anatomical results, visual outcomes and complications of the surgery. RESULTS: Forty-nine eyes with rhegmatogenous retinal detachment treated with primary microincision pars plana vitrectomy with minimum follow up of at least 3 months were evaluated. Anatomical success was achieved in 91.8% of cases (45/49). Baseline mean best corrected visual acuity was logMAR 1.63±0.88 and median best corrected visual acuity was 2.00 (range 0.00 to 2.70) while at 3 months follow up mean best corrected visual acuity was logMAR 1.22±0.66 and median BCVA was 1.00 ( range 0.00 to 2.70). There was significant improvement in median BCVA ( p= 0.005). There were no cases of postoperative hypotony and endophthalmitis. Other complications were also minimal such as silicon oil in anterior chamber in 1 eye, epiretinal membrane in 3 eyes and macular hole in 2 eyes. CONCLUSIONS: Microincision pars plana vitrectomy is an effective surgical method of primary treatment for rhegmatogenous retinal detachment with good anatomical and visual outcomes with minimal complications.

Vitreoretinopathy-Associated Pediatric Retinal Detachment Treatment Outcomes: IRIS® Registry (Intelligent Research in Sight) Analysis.

Purpose: To determine the treatment patterns and outcomes of pediatric retinal detachments (RDs) associated with hereditary vitreoretinopathies. Design: Retrospective cohort analysis using IRIS® Registry (Intelligent Research in Sight) database. Participants: Patients < 18 years old with a rhegmatogenous RD and a systemic disorder associated with vitreoretinal degeneration (e.g., Stickler syndrome) or other malformation of the vitreous from 2013-2019. Methods: Cases were identified using International Classification of Diseases, Ninth and Tenth Revisions (ICD-9, ICD-10) diagnostic codes from the IRIS® Registry cohort. Other hereditary vitreoretinopathies that are not encoded by specific ICD code(s) were captured by text search. Nonspecific vitreous abnormality ICD codes were also included. Exclusion criteria included traumatic retinal detachments using ICD codes for ocular trauma and serous or exudative retinal detachment. Surgical procedures were identified using Current Procedural Terminology (CPT) codes for repair of retinal detachment. Baseline demographic information collected included age, gender, race/ethnicity, geographic region of the provider location, and health insurance status. Main Outcome Measures: Main outcomes measured in this study were average time to first surgery, number of eyes presenting with bilateral detachments, and choice of initial surgical procedure. Results: A total of 2115 eyes of 1722 patients were identified (mean age, 10.4 years; 58% male). The median time to first surgery was 7 days (interquartile range, 40 days). One thousand four hundred seven eyes of 1134 patients had ≥ 1 year of follow-up, with 506 eyes (36%) developing a fellow eye RD. Thirty-three percent of patients presenting with bilateral detachments, and 349 eyes had initial RD surgery within 1 year of the index date documented by CPT code. Fellow eye detachment occurred a mean of 32 days after initial presentation. The mean number of surgeries per eye within 1 year was 1.68. Best-corrected visual acuity did not improve from a baseline 20/54 to 20/62. The initial procedure was most commonly complex RD repair (n = 176), followed by scleral buckle (n = 102), pars plana vitrectomy (n = 89), laser (n = 59), cryotherapy (n = 5), and pneumatic retinopexy (n = 5). There were 51 new diagnoses of glaucoma and 37 new diagnoses of aphakia within 1 year after the surgical procedure. Conclusions: IRIS Registry data provide insight into rare pediatric vitreoretinopathy-associated RDs, which have a high rate of reoperation and fellow eye involvement. Financial Disclosures: Proprietary or commercial disclosure may be found after the references.

Recognizing cisplatin as a potential radiation recall trigger: case report and focused systematic review.

We present a case of mild radiation recall dermatitis triggered by cisplatin chemotherapy given simultaneously to re-irradiation. The dermatitis area correlated to skin exposure of the previous radiation therapy, characterizing the reaction clearly as a recall. Cisplatin has not yet been recognized as a potential trigger for recall reactions. Although it was part of several reported multidrug trigger combinations, all review works referred to cisplatin as not suspicious, suggesting the combination partner as the effector. We performed a focused systematic literature review aiming to re-evaluate the real role of cisplatin as a (co-)triggering factor. In total, 30 reported cases were found, 90% triggered by multidrug combinations. The latter tended to cause more severe symptoms. Besides findings supporting the 20 Gy-threshold theory, no correlation between radiation dose and severity or prevalence was found. Recognition of cisplatin as a trigger of the recall phenomenon and its supportive management may prevent unnecessary cessation of systemic chemotherapy. Systematic reporting of recall events as a secondary endpoint of prospective clinical trials applying radiation therapy could support understanding the recall phenomenon.

MicroRNA Expression in Subretinal Fluid in Eyes Affected by Rhegmatogenous Retinal Detachment.

Proliferative vitreoretinopathy (PVR) is an abnormal intraocular scarring process that can complicate cases of rhegmatogenous retinal detachment (RRD). Although previous studies have examined the relevance of microRNAs (miRNAs) in ophthalmic diseases, only a few studies have evaluated the expression profiles of microRNAs in subretinal fluid. We hypothesized that the expression profiles of specific miRNAs may change in response to RRD, in the subretinal fluid that is directly in contact with photoreceptors and the retinal pigment epithelium (RPE). We looked for a potential correlation between the expression of specific miRNAs in eyes with RRD and known clinical risk factors of PVR. A total of 24 patients (59 ± 11 years) who underwent scleral buckling procedure were enrolled in this prospective study. Twenty-four undiluted subretinal fluid samples were collected, RNA was isolated and qRT-PCR was performed to analyze the expression of 12 miRNAs. We found the existence of a positive association between the expression of miR-21 (p = 0.017, r = 0.515) and miR-34 (p = 0.030, r = 0.624) and the duration of symptoms related to retinal detachment. Moreover, the expression of miR-146a tended to decrease in patients who developed PVR. Subretinal fluid constitutes an intriguing biological matrix to evaluate the role of miRNAs leading to the development of PVR.

Systemic and Intraocular Methotrexate for the Prevention and Treatment of Proliferative Vitreoretinopathy in Children With Rhegmatogenous Retinal Detachment and Underlying Inflammatory Disease.

Purpose: This index study highlights the efficacy and safety of a combined surgical and medical therapy (with intraocular and systemic methotrexate) of pediatric rhegmatogenous retinal detachments (RRD) complicated by proliferative vitreoretinopathy (PVR). Methods: Three pediatric patients with RRD complicated by PVR in the setting of underlying atopic dermatitis and/or uveitis who were treated with a combination of vitreoretinal surgery and intraoperative intravitreal methotrexate (MTX) (40mg) infusion, followed by at least one injection of 200 µg of MTX into the silicone oil-filled vitreous cavity, are reported. In addition, the patients received short-term systemic immunosuppression with systemic (oral or subcutaneous 20 mg weekly MTX for 12 weeks) and/or steroids. Results: Retinal reattachment with improvement in visual acuity was achieved in all eyes following a single surgery and remained to the final follow-up examination after oil removal. There were no observed side effects of intraocular or systemic MTX. Conclusions: The safety and efficacy of this combination therapy suggests that it could be a successful strategy for treating pediatric patients with RRD with or without PVR in the presence or absence of underlying inflammatory diseases.

Demographics and Seasonality of Retinal Detachment, Retinal Breaks, and Posterior Vitreous Detachment from the Intelligent Research in Sight Registry.

Purpose: To investigate the incidence, seasonal variation, and differences among age, sex, and race for rhegmatogenous retinal detachment (RRD) repair, retinal break (RB) treatment, and posterior vitreous detachment (PVD) in the Intelligent Research in Sight (IRIS) Registry. Design: Retrospective database study. Participants: Patients in the IRIS Registry who underwent RRD repair, RB treatment, or cataract surgery (CS) based on Current Procedural Terminology codes and PVD diagnosis based on International Classification of Diseases, Ninth and Tenth Revision, codes. Methods: Daily incidence rates were defined as the ratio of patients who underwent RRD repair or RB treatment and patients with a diagnosis of PVD to the total number of patients followed on a given day within the IRIS Registry. The CS group was included as a comparison for seasonal variation. Rates were stratified by decade of life, sex, and race. Main Outcome Measures: Time series trends for incidence rates of RRD, RB, and PVD. Results: A total of 7 115 774 patients received a diagnosis of incident PVD, 237 646 patients underwent RRD repair, and 359 022 patients underwent RB treatment. Also included were 5 940 448 patients who underwent CS. The mean daily incidence for RRD repair, RB treatment, PVD diagnosis, and CS were 0.46 per 100 000 patients, 0.70 per 100 000 patients, 13.90 per 100 000 patients, and 11.80 per 100 000 patients, respectively. Men showed higher incidence of RRD repair and RB treatment than women, whereas women showed higher incidence of PVD diagnosis. Rhegmatogenous retinal detachment incidence was higher in White people compared with other races. Seasonal decreases in PVD, RB treatment, RRD repair, and CS corresponded to national holidays, with larger decreases in winter months. Kaplan-Meier estimates showed that RRD repair and RB treatment typically occurred within 60 days of PVD diagnosis. Conclusions: Within the IRIS Registry, the highest incidence of RRD was in the 6th and 7th decade of life. There was a higher incidence of RRD repair and RB treatment in men compared with women. The seasonal variation associated with national holidays was less pronounced for RRD repair and RB treatment.

A Novel Transcriptome Approach to the Investigation of the Molecular Pathology of Vitreous and Retinal Detachment.

Retinal detachment (RD) is one of the most common, sight-threatening ocular conditions requiring emergency intervention. Posterior vitreous detachment (PVD) occurs in the majority of an aging population whereby the vitreous body separates from the retina. It is well established that PVD is the common precursor to the most common forms of RD; however, it remains unknown why in most individuals PVD will cause no/few complications (physiological PVD) but in a small percentage will cause retinal tears and detachment (pathological PVD). Despite over 100 years of scientific research, the anatomical definitions of PVD and its pathogenesis remain controversial. Recent research has identified a novel cell population (laminocyte), present at significantly higher numbers in pathological PVD when compared to physiological PVD. We review and summarise the seven distinct clinical sub-groups of retinal breaks and focus on the role of the laminocyte in those secondary to PVD and the transcriptomic profile of this unique cell. Provisional whole transcriptome analysis using bulk RNA-Seq shows marked differentially expressed genes when comparing physiological PVD with PVD associated with RD. The limitations of bulk RNA-Seq are considered and the potential to address these using spatial transcriptomics are discussed. Understanding the pathogenesis of PVD-related retinal tears will provide a baseline for the development of novel therapeutic targets and prophylactic treatments.

Return to the Operating Room After Repair of Rhegmatogenous Retinal Detachment.

Purpose: To report the rate of all-cause returns to the operating room (OR) after surgery for rhegmatogenous retinal detachment (RRD). Patients and Methods: This was a retrospective consecutive case series; 1278 eyes underwent RRD repair from 1/1/2014 to 12/31/2016 at a tertiary care center. A total of 507 eyes returned to the OR. Surgical indication, procedure, number of reoperations, and final vision were recorded. Results: At least one secondary procedure was performed in 24.9% at 6 months, 34.7% at 1 year, and 39.7% as of last follow-up. The most common indications for reoperation were cataract (43.9%) and recurrent RRD (12.8%). Cornea, glaucoma, and oculoplastic issues were rare (each <1.1%). There was no association between final visual outcome and number of reoperations (p > 0.05). SB/PPV had the highest rate of return to OR (p < 0.001) but lowest rate of recurrent RRD (p = 0.007). Conclusion: To our knowledge, there are no other large studies that examine all-cause returns to the OR after primary RRD repair. This study provides important risk-benefit and prognostic information to patients undergoing RRD repair.

Incidence, Risk Factors, and Outcomes of Rhegmatogenous Retinal Detachment after Intravitreal Injections of Anti-VEGF for Retinal Diseases: Data from the Fight Retinal Blindness! Registry.

PURPOSE: To report the estimated incidence, probability, risk factors, and 1-year outcomes of rhegmatogenous retinal detachment (RRD) in eyes receiving intravitreal injections (IVTs) of VEGF inhibitors for various retinal conditions in routine clinical practice. DESIGN: Retrospective analysis of data from a prospectively designed observational outcomes registry: the Fight Retinal Blindness! PARTICIPANTS: Eyes of patients starting IVTs of VEGF inhibitors (ranibizumab, aflibercept, or bevacizumab) for neovascular age-related macular degeneration, diabetic macular edema, or retinal vein occlusion from January 1, 2006, to December 31, 2020. All eyes that developed RRD within 90 days of IVTs were defined as cases with RRD and were matched with control eyes. METHODS: Estimated incidence, probability, and hazard ratios (HRs) of RRD were measured using Poisson regression, Kaplan-Meier survival curve, and Cox proportional hazards models. Locally weighted scatterplot smoothing curves were used to compare visual acuity (VA) between cases and matched controls. MAIN OUTCOME MEASURES: Estimated incidence of RRD. RESULTS: We identified 16 915 eyes of 13 792 patients who collectively received 265 781 IVTs over 14 years. Thirty-six eyes were reported to develop RRD over the study period. The estimated incidence (95% confidence interval [CI]) per year per 1000 patients and per 10 000 injections was 0.77 (0.54-1.07) and 1.36 (0.95-1.89), respectively. The probability of RRD did not significantly increase at each successive injection (P = 0.95) with the time of follow-up. Older patients (HR [95% CI] = 1.81 [1.21-3.62] for every decade increase in age, P < 0.01) were at a higher risk of RRD, whereas patients with good presenting VA (HR [95% CI] = 0.85 [0.70-0.98] for every 10-letter increase in VA, P = 0.02) were at a lower risk. Neither the type of retinal disease (P = 0.52) nor the VEGF inhibitor (P = 0.09) was significantly associated with RRD risk. Cases with RRD lost 3 lines of vision on average compared with the prior RRD VA and had significantly fewer injections than matched controls over the year after the RRD. CONCLUSIONS: Rhegmatogenous retinal detachment is a rare complication of VEGF inhibitor IVT in routine clinical practice with poor visual outcomes at 1 year.

DIA Comparative Proteomic Analysis of Retro-oil Fluid and Vitreous Fluid From Retinal Detachment Patients.

Objectives: There have been reports of unexplained visual loss following intra-ocular silicone oil (SiO) tamponade in retinal detachment patients, yet the underlying mechanism is unknown. The aim of this study was to investigate the mechanisms behind retinal toxicity following intra-ocular SiO tamponade in retinal detachment patients. Methods and Results: Vitreous fluid samples were acquired from 27 patients (27 eyes). Twelve eyes for data-independent acquisition (DIA) were divided into four groups: pars plana vitrectomy (PPV) for rhegmatogenous retinal detachment (RD group), SiO removal after successful retinal reattachment (SO group), cataract surgery after successful retinal reattachment with sterilized air tamponade (FA group), and PPV for epiretinal membrane (ERM group). The remaining 15 eyes were used for enzyme-linked immunosorbent assay analysis. DIA was combined with two-dimensional liquid chromatography-tandem mass spectrometry to find expression changes in the proteome of vitreous. Mean number mass spectra, statistically differentially expressed proteins, gene ontology (GO), pathway representations, and protein interactions were analyzed. GO analysis showed that the protein categories of synapse organization, cell adhesion, and regulation of cell migration in the SO group were differentially expressed compared to the control or FA groups (p < 0.05). Through Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis, lysosome and cell adhesion were found to be significantly enriched in the SO group compared to the FA and control groups (p < 0.05). Cadherin 2, transferrin, and lysosome function may partially contribute to silicone oil-related vision loss. Conclusion: Vision loss-inducing novel molecular signatures and pathways that may be associated with SiO toxicity were identified. Transferrin may be a potential visual outcome biomarker for SiO tamponade.

Doxycycline Ameliorates the Severity of Experimental Proliferative Vitreoretinopathy in Mice.

After successful surgeries for patients with rhegmatogenous retinal detachment, the most common cause of retinal redetachment is proliferative vitreoretinopathy (PVR), which causes severe vision impairment and even blindness worldwide. Until now, the major treatment for PVR is surgical removal of the epiretinal membrane, while effective treatment to prevent PVR is still unavailable. Therefore, we investigated the potential of doxycycline, an antibiotic in the tetracycline class, to treat PVR using a mouse model. We used the human retinal pigment epithelial cell line, ARPE-19, for in vitro and in vivo studies to test doxycycline for PVR treatment. We found that doxycycline suppressed the migration, proliferation, and contraction of ARPE-19 cells with reduced p38 MAPK activation and total MMP activity. Intravitreal doxycycline and topical tetracycline treatment significantly ameliorated the PVR severity induced by ARPE-19 cells in mice. PVR increased the expression of MMP-9 and IL-4 and p38 MAPK phosphorylation and modestly decreased IL-10. These effects were reversed by doxycycline and tetracycline treatment in the mouse retina. These results suggest that doxycycline will be a potential treatment for PVR in the future.

Physiology of retinal reattachment in humans: Swept source optical coherence tomography imaging data supporting a novel staging system.

This article presents high-resolution swept source optical coherence tomography (SS-OCT) imaging data used to describe the physiology of retinal reattachment in humans. SS-OCT imaging was performed at baseline and every 2 h for the first 6 h and at frequent intervals thereafter up to 6 weeks following the injection of intravitreal gas in eyes undergoing pneumatic retinopexy for rhegmatogenous retinal detachment. Imaging data presented in this article is related to the research paper titled "Real-Time in Vivo Assessment of Retinal Reattachment in Humans using Swept-Source Optical Coherence Tomography" (Bansal et al., 2021). SS-OCT images were assessed longitudinally and used to devise a novel staging system that describes the physiology of retinal reattachment. Multiple examples of each stage and the transition from one stage to the next are provided. SS-OCT images were also assessed to determine the timing associated with each stage, and the anatomic abnormalities, such as outer retinal folds and subretinal fluid blebs that occured as a result of delayed progression through certain stages.

Immune responses to injury and their links to eye disease.

The eye is regarded as an immune privileged site. Since the presence of a vasculature would impair vision, the vasculature of the eye is located outside of the central light path. As a result, many regions of the eye evolved mechanisms to deliver immune cells to sites of dysgenesis, injury, or in response to the many age-related pathologies. While the purpose of these immune responses is reparative or protective, cytokines released by immune cells compromise visual acuity by inducing inflammation and fibrosis. The response to traumatic or pathological injury is distinct in different regions of the eye. Age-related diseases impact both the anterior and posterior segment and lead to reduced quality of life and blindness. Here we focus attention on the role that inflammation and fibrosis play in the progression of age-related pathologies of the cornea and the lens as well as in glaucoma, the formation of epiretinal membranes, and in proliferative vitreoretinopathy.

TORC1 regulates the transcriptional response to glucose and developmental cycle via the Tap42-Sit4-Rrd1/2 pathway in Saccharomyces cerevisiae.

BACKGROUND: Target of Rapamycin Complex 1 (TORC1) is a highly conserved eukaryotic protein complex that couples the presence of growth factors and nutrients in the environment with cellular proliferation. TORC1 is primarily implicated in linking amino acid levels with cellular growth in yeast and mammals. Although glucose deprivation has been shown to cause TORC1 inactivation in yeast, the precise role of TORC1 in glucose signaling and the underlying mechanisms remain unclear. RESULTS: We demonstrate that the presence of glucose in the growth medium is both necessary and sufficient for TORC1 activation. TORC1 activity increases upon addition of glucose to yeast cells growing in a non-fermentable carbon source. Conversely, shifting yeast cells from glucose to a non-fermentable carbon source reduces TORC1 activity. Analysis of transcriptomic data revealed that glucose and TORC1 co-regulate about 27% (1668/6004) of yeast genes. We demonstrate that TORC1 orchestrates the expression of glucose-responsive genes mainly via the Tap42-Sit4-Rrd1/2 pathway. To confirm TORC1's function in glucose signaling, we tested its role in spore germination, a glucose-dependent developmental state transition in yeast. TORC1 regulates the glucose-responsive genes during spore germination and inhibition of TORC1 blocks spore germination. CONCLUSIONS: Our studies indicate that a regulatory loop that involves activation of TORC1 by glucose and regulation of glucose-responsive genes by TORC1, mediates nutritional control of growth and development in yeast.

Development of neovascular glaucoma after intraocular surgery in Pierson syndrome.

Purpose: To report a patient with Pierson syndrome who presented with neovascular glaucoma (NVG) after cataract surgery.Methods: Retrospective case report.Results: A 17-year old monocular female presented with sudden onset of pain and decreased vision in the right eye. On examination, she had intraocular pressure (IOP) of 50 mmHg, aggressive iris neovascularization (NVI) and 3-piece IOL. Fundus examination revealed pale disc with tessellated fundus and parapapillary atrophy. Vascular arcades were vertically stretched with avascular ischemic retina starting from the near periphery. Macula appeared thin and atrophic. An intravitreal injection of 0.05 mg/0.1 ml bevacizumab was given to the right eye followed by Ahmed glaucoma valve (AGV) implantation. Assessment of her brother revealed similar posterior segment changes. A subsequent urine analysis showed proteinuria and high albumin to creatinine ratio. Next-generation sequencing for LAMB2 gene revealed a homozygous c.4573 + 1 G > A variant confirming the diagnosis of Pierson syndrome.Conclusion: This case expands our knowledge on retinal ischemia in the setting of Pierson syndrome. Close monitoring after intraocular surgery is recommended to look for the development of NVG.

Two-staged surgery as an alternative to buckle-vitrectomy for rhegmatogenous retinal detachment complicated by choroidal detachment.

AIM: To evaluate the outcome and safety profile of short-term perfluorocarbon liquids (PFCL) tamponade in comparison with buckle-vitrectomy in case of rhegmatogenous retinal detachment (RRD) associated with choroidal detachment (CD). METHODS: Records of patients who underwent surgery for RRD/CD from January 2016 to July 2019 were reviewed retrospectively. The patients were allocated into two groups-group 1 patients underwent buckle-vitrectomy, while those in group 2 underwent a two-staged vitrectomy with short-term (5 days) PFCL tamponade. RESULTS: The study included 33 eyes (33 patients) with mean age of 50.3 ± 17.2 years. Group 1 included 15 patients, while group 2 included 18. The pre-operative characteristics were similar in both the groups. The mean pre-operative intraocular pressure in group 1 and 2 was 9.1 ± 4.0 and 8.6 ± 5.2 mmHg, respectively (p = 0.755). Retinal re-attachment after single surgery was achieved in 10 (66.7%) and 14 eyes (77.8%), respectively. All the eyes achieved retinal re-attachment after repeat surgery in both the groups (1.40 vs 1.39 surgeries, p = 0.963). Post-surgery visual improvement was seen in 13 (86.7%) and 17 eyes (94.4%), respectively (p = 0.579). Final visual acuity of ≥ 6/60 was obtained in 7 (46.7%) and 9 eyes (50.0%), respectively (p > 0.999). None of the patients needed retinectomy during repeat surgery. None of the patients experienced exaggerated inflammation or intractable raised IOP spike which could not be controlled with medications. CONCLUSION: Surgical outcomes were similar in both the groups. No clinically apparent toxicity was seen with post-operative short-term PFCL tamponade. Two-staged surgery is a good alternative to buckle-vitrectomy for eyes with RRD associated with CD.

Dealing with rhegmatogenous retinal detachment in patients under 40 years old: a tertiary center results.

PURPOSE: The risk of rhegmatogenous retinal detachment (RRD) increases with age, but some studies report a secondary peak in younger patients. Since visual recovery in RRD depends on surgical treatment and, considering the personal, social and economic burden of low vision in the working-age population, our purpose was to analyze the features and outcomes of RRD in young patients. METHODS: Clinical data of patients under 40 years old submitted to surgery for first time RRD, consecutively selected between 2016 and 2019, was analyzed. Patients with less than 3 months follow-up were excluded. RESULTS: Eighty-nine eyes from 89 patients were included. Mean age was 31.2 ± 7.8 years (minimum 10 years) and 56% were female gender. Most patients (63%) had high myopia. Pars plana vitrectomy (79%) alone, combined with scleral buckling (1%) or scleral buckling alone (20%) was performed. Primary anatomical success was 72%, and final anatomical success was 91%. Final visual acuity of 20/40 or better was achieved in 29% of cases, but 28% remained under 20/400. The presence of myopia (p = 0.022), localized RRD (p = 0.007) and attached macula at presentation (p < 0.001) was associated with a better final visual acuity. CONCLUSION: Management of RRD in young patients must be thorough. In younger patients, anatomical outcomes may be worse than in older patients. Myopia may be recognized as a major risk factor for RRD in this age group, but also as a protective factor for retinal function after surgery.

Incidence and management of rhegmatogenous retinal detachment after pars plana vitrectomy and sutureless scleral-fixated intraocular lens.

Purpose: To evaluate the incidence, risk factor(s), and surgical outcomes of rhegmatogenous retinal detachment (RRD) in patients undergoing pars plana vitrectomy (PPV) with sutureless scleral-fixated intraocular lens implantation (SFIOL). Methods: Records of patients (1311 eyes, 1234 patients) who underwent PPV and sutureless SFIOL from 2017 to 2018 were retrospectively analyzed. Results: The indications SFIOL were subluxated lens (33.7%), dislocated IOL (21.7%), surgical aphakia (20.1%), congenital lens subluxation (11.1%), nucleus drop (6.9%), and post-open globe injury (OGI) repair (6.5%). History of closed-globe injury (CGI) was present in 27.2% eyes.Twenty-two eyes (1.7%) developed RRD. The incidence of RRD in eyes, which underwent SFIOL surgery for subluxated lens, dislocated IOL, surgical aphakia, congenital lens subluxation, nucleus drop, and post-OGI repair was 1.4% (n = 6), 2.5% (n = 7), 1.1% (n = 3), 3.4% (n = 5), 0 and 1.2% (n = 1), respectively (P = 0.382). The incidence of RRD in eyes with and without CGI was 1.7% each (P = 0.996).Twenty-one eyes underwent RD surgery. Retinal reattachment was achieved in 76.2% eyes, while 66.7% eyes required only one surgery. The eyes in which retina failed to reattach had a high grade of proliferative vitreoretinopathy present at the time of presentation. Final best-corrected visual acuity of ≥20/60 and <20/60 to ≥20/200 and <20/200 was seen in 38.1%, 19.0%, and 42.9% eyes. Conclusion: Eyes with the congenital subluxated lens are at a marginally higher risk of developing post-SFIOL RRD. The surgical outcome of RD surgery in these eyes is good.