Long-term anatomical and functional outcomes of surgical treatment of retinal complications in children and adolescents with Stickler syndrome between 2004 and 2021.

BACKGROUND: Stickler syndrome (STL) is an inherited progressive connective tissue collagen disorder. STL is the most common hereditary cause of retinal complications, retinal tears, and the development of retinal detachment (RD) in childhood. The aim of the study was to evaluate the long-term anatomical and functional results of surgical treatment of retinal complications in children and adolescents affected by STL. METHODS: A retrospective, single-center study was performed a cohort of children with STL who underwent retinal surgery between 2004 and 2021. RESULTS: The study group consisted of nine children; the mean age at the time of the retinal tear with/without retinal detachment was 7.2 (2-10) years, and the mean follow-up period was 9.6 (5-16) years. Pathogenic variants COL2A1 (5 children) and COL11A1 (3 children) were confirmed in our cohort. In total, we operated on 13 eyes, 11 eyes with complicated RD and two eyes with multiple retinal defects, but without RD. At the end of the follow-up period, an attached retina was achieved 77% (10 eyes) with or without silicone oil tamponade: cryopexy alone was successful in one eye (10%), scleral buckling (EB) in five eyes (50%), and vitrectomy with silicone oil tamponade combined with EB in four eyes (40%). The mean number of surgeries was 2.3 per eye. The resulting best corrected visual acuity ranged from 0.03 to 0.1 in one eye, from 0.16 to 0.4 in two eyes, and from 0.5 to 1.0 in 7 eyes. CONCLUSION: Repair of retinal tears with/without retinal detachment in patients with Stickler syndrome often requires multiple surgeries with combinations of cryopexy, scleral buckling, and/or vitrectomy with silicone oil tamponade. Treatment of the ocular complications arising from STL requires long-term comprehensive care.

Combined pulses of light and sound in the retina with nutraceuticals may enhance the recovery of foveal holes.

The present manuscript stems from evidence, which indicates that specific wavelength produce an activation of the autophagy pathway in the retina. These effects were recently reported to synergize with the autophagy-inducing properties of specific phytochemicals. The combined administration of photo-modulation and phytochemicals was recently shown to have a strong potential in eliciting the recovery in the course of retinal degeneration and it was suggested as a non-invasive approach named "Lugano protocol" to treat age-related macular degeneration (AMD). Recent translational findings indicate that the protective role of autophagy may extend also to acute neuronal injuries including traumatic neuronal damage. At the same time, very recent investigations indicate that autophagy activation and retinal anatomical recovery may benefit from sound exposure. Therefore, in the present study, the anatomical rescue of a traumatic neuronal loss at macular level was investigated in a patient with idiopathic macular hole by using a combined approach of physical and chemical non-invasive treatments. In detail, light exposure was administered in combination with sound pulses to the affected retina. This treatment was supplemented by phytochemicals known to act as autophagy inducers, which were administered orally for 6 months. This combined administration of light and sound with nutraceuticals reported here as Advanced Lugano's Protocol (ALP) produced a remarkable effect in the anatomical architecture of the retina affected by the macular hole. The anatomical recovery was almost complete at roughly one year after diagnosis and beginning of treatment. The structural healing of the macular hole was concomitant with a strong improvement of visual acuity and the disappearance of metamorphopsia. The present findings are discussed in the light of a synergism shown at neuronal level between light and sound in the presence of phytochemicals to stimulate autophagy and promote proliferation and neuronal differentiation of retinal stem cells.

MACULAR HOLE FORMATION ASSOCIATED WITH INTENSE PULSED LIGHT THERAPY.

PURPOSE: To describe the first case of macular hole formation following intense pulsed light therapy. METHODS: This is a retrospective case report. A 68-year-old woman presented with blurry vision that occurred 1 day following intense pulsed light therapy for hair removal. RESULTS: A full thickness macular hole, which had not been previously documented was noted on fundus exam. Ocular coherence tomography confirmed a full-thickness macular hole. DISCUSSION: Laser treatment for hair removal has been reported to cause ocular injuries including iris atrophy, pupillary distortion, cataracts, and uveitis. Intense pulsed light therapy, a specific type of laser therapy, has been reported to cause iris transillumination defects, anterior uveitis, and pupil abnormalities. Our case is the first to describe a macular hole secondary to intense pulsed light therapy. The etiology of the macular hole is postulated to be secondary to possible thermal injury with absorption of energy at the level of the retinal pigment epithelium. This emphasizes the role and importance of preventative measures, such as protective glasses in reducing the risk of ocular injuries.

Persistent macular holes - what is the best strategy for revision?

PURPOSE: This study aims to analyze the success rate and functional outcome after revision surgery of persistent idiopathic full-thickness macular holes in a large patient cohort and to identify the optimal tamponade strategy and the value of new adjunctive manipulation techniques for persistent macular hole (pMH) closure. METHODS: Retrospective, comparative, non-consecutive case series of all revisional surgeries for idiopathic pMH between 2011 and 2019 at the Eye Clinic Sulzbach were identified. Of 1163 idiopathic MH surgeries, 74 eyes of 74 patients had pMH. Of those, group 1 (n = 38) had vitrectomy with tamponade alone (20% sulfur hexafluoride gas, 15% hexafluoroethane gas, silicone oil 5000, Densiron®), while group 2 (n = 36) included tamponade with adjuvant manipulation (internal limiting membrane (ILM) translocation, subretinal fluid injection, epiretinal amniotic membrane, free retina graft, or autologous blood). Main statistical outcomes were anatomic closure rate, visual acuity (VA), minimum linear diameter (MLD), and base diameter (BD). RESULTS: Overall total anatomical success rate was 81.1% and mean VA improved 3.5 lines from LogMAR 1.03 ± 0.30 to 0.68 ± 0.38 (p < .001). Preoperative MLD or BD had no effect on total anatomic success (p = 0.074, p = 0.134, respectively). When comparing the two groups, slightly better anatomic success rates were achieved in group 1 (84.2%) compared to that in group 2 (77.8%) (p = 0.68). Final VA in group 1 (LogMAR 0.67 ± 0.39) outperformed group 2 (LogMAR 0.86 ± 0.38) (p = 0.03). CONCLUSIONS: Revisional surgery for persistent idiopathic MH with tamponade alone had comparable anatomical closure but better VA outcomes, compared to tamponade with adjuvant manipulation.

Anatomical and functional outcomes one year after vitrectomy and retinal massage for large macular holes.

Purpose: The aim of this study was to report results of macular hole closure, visual benefit and longitudinal changes in foveal architecture over 1 year following macular hole surgery with retinal massage. Methods: Records of patients with full thickness macular hole (FTMH) with minimum basal diameter of 550 µ who underwent vitrectomy, internal limiting membrane (ILM) peeling and retinal massage were drawn up. Retinal massage was performed after dye assisted ILM peeling, using a 27G flute needle with a long and soft silicone tip under air in a centripetal direction around the FTMH. At the end, 10% C3F8 gas was used as tamponade. The foveal contour at 1 year follow up was recorded based on its cross sectional appearance on OCT and was classified into U, V and irregular types of closure as previously described. Results: Forty-one eyes of 41 patients with a mean age of 70.4 ± 6.9 years were included. The mean preoperative vision was 0.99 ± 0.07 logMAR and mean maximum basal diameter of the FTMH was 835 ± 208 µ. Macular hole closure was seen in all patients at 1-month follow up. The BCVA improved to 0.5 ± 0.1 log MAR at 6 months (P < 0.001) and then stabilized. The U shaped closure was the commonest pattern (n = 22, 54%), followed by V-shaped closure (n = 16, 39%) while irregular closure was seen in 3 eyes (7%). Conclusion: Retinal massage after ILM peeling is a very simple, and as yet under-utilized manoeuvre that may improve hole closure rates and lead to potentially greater improvement in vision compared to existing techniques for large holes.

Laser and anti-vascular endothelial growth factor treatment for drusenoid pigment epithelial detachment in age-related macular degeneration.

This study aims to report the 12 months results of efficacy and safety of laser photocoagulation and anti-vascular endothelial growth factor (VEGF) injections for drusenoid pigment epithelial detachment (dPED). In this prospective study, patients with treatment naïve bilateral intermediate age-related macular degeneration, featuring dPED, with visual acuity ≤ 83 letters were enrolled. The study group received PASCAL laser (532 nm) along the periphery of the dPED, and the fellow eye served as a control group. To prevent complications of choroidal neovascularization, intravitreal anti-VEGF injections to laser treated eye were performed on a 3-month interval up to 1 year. Primary outcomes-drusen area, PED height-and secondary outcomes-best-corrected visual acuity (BCVA), contrast sensitivity, degree of metamorphopsia, NEI-VFQ 25, and fundus autofluorescence-were analyzed. Among 21 patients, a total of 20 patients satisfied the 12 months follow-up. Drusen area and PED height decreased significantly in the laser group, while no significant change appeared in the control group (74.1% vs. - 3.5%, P < 0.001; 76.6% vs. 0.1%, P < 0.001). Mean BCVA improved 4.6 letters in the laser group (vs. 1.1 letters in the control group, P = 0.019). As for safety, one study eye developed retinal pigment epithelial tear, and one control eye developed retinal angiomatous proliferation. Low energy laser photocoagulation and anti-VEGF injection in eyes with dPED showed some improvement in visual acuity. dPED regressed without developing center involving GA in the study eye, but a longer term follow-up is necessary to reveal the efficacy and safety of these treatments. The 2-year results of this study will be followed to reveal long term efficacy and safety of the treatment for dPED.

Surgical outcomes of macular hole and epimacular membrane treatment in patients with intraoperative amaurosis under sub-Tenon's anesthesia.

OBJECTIVE: Some patients have been found to develop intraoperative amaurosis under sub-Tenon's anesthesia. We explored whether these patients have poor surgical outcomes during mid- to long-term postoperative follow-up. METHODS: In this case series, 74 of 85 patients with macular diseases who underwent phacoemulsification combined with vitrectomy under sub-Tenon's anesthesia developed intraoperative amaurosis. The surgical outcomes at the 2- and 4-month follow-ups in these patients were investigated and compared with the outcomes in patients without amaurosis using best-corrected visual acuity (BCVA), optical coherence tomography (OCT), and pattern visual evoked potential (PVEP). RESULTS: Both BCVA and the OCT-based macular structure in patients with intraoperative amaurosis showed significant postoperative improvement comparable with that of patients without amaurosis. The presence of intraoperative amaurosis was not associated with either macular hole closure or macular edema regression. PVEP revealed no significant changes in the wave latency or amplitude before and after surgery. CONCLUSION: Intraoperative amaurosis following sub-Tenon's block is commonly seen but does not predict a poor surgical prognosis. When a patient develops amaurosis during surgery, the surgeon should increase patient comfort through verbal communication rather than perform an additional intervention to help relieve the patient's anxiety.

Comparing the inverted internal limiting membrane flap with autologous blood technique to internal limiting membrane insertion for the repair of refractory macular hole.

PURPOSE: To compare the anatomical and functional outcomes of the inverted internal limiting membrane (ILM) flap technique and the autologous blood clot (ABC) to ILM insertion technique for the repair of refractory macular hole (RMH). METHODS: Fifty-two consecutive patients (52 eyes) diagnosed with RMH with a minimum diameter more than 700 µm were enrolled. All patients underwent vitrectomy and gas tamponade. Of these, 25 patients undergo inverted ILM flap combination with ABC (Group A). The remaining 27 patients underwent ILM insertion (Group B). The main outcome measures were macular hole (MH) closure, foveal configuration, logarithm of the minimum angle of resolution (logMAR), best-corrected visual acuity (BCVA), superficial foveal avascular zone (FAZ) and superficial parafoveal vessel density. RESULTS: Three months post-operation, MH was successfully anatomic closed in 24 of 25 eyes (96%) in Group A and 25 of 27 eyes (92.5%) in Group B (P = 0.599). A concave foveal configuration of MH closure was observed in 23 of 25 eyes (92%) in Group A and 2 of 27 eyes (7.4%) in Group B (P < 0.001). Mean BCVA (logMAR) had improved from 1.31 ± 0.61 to 0.68 ± 0.40 in Group A (P < 0.001) and from 1.34 ± 0.39 to 1.29 ± 0.62 in Group B (P = 0.584) at 3 months. Average superficial FAZ area and superficial parafoveal vessel density were 0.29 ± 0.08 mm2 and 51.41 ± 2.79% in Group A and 0.73 ± 0.15 mm2 and 43.77 ± 2.71% in Group B, respectively. There was a significant difference in both the average superficial FAZ area and parafoveal vessel density between Groups A and B (P < 0.001 for both). CONCLUSION: Anatomical foveal configuration, mean BCVA (logMAR), mean superficial FAZ and parafoveal vessel density outcomes for the inverted ILM flap combined with ABC approach were better than the outcomes obtained with ILM insertion in the treatment of RMH. This approach may promote better long-term, vision function outcomes for patients diagnosed with RMH.

Erosive Retinopathy and Retinal Detachment From Depot Intravitreal Triamcinolone Acetonide Injection at the End of Pars Plana Vitrectomy.

BACKGROUND AND OBJECTIVE: Intravitreal triamcinolone acetonide (IVTA) used as a surgical adjuvant for pars plana vitrectomy (PPV) can stain cortical vitreous, control postoperative inflammation, and reduce retinal edema. Sterile endophthalmitis uncommonly complicates office-based IVTA injection. The authors report a new complication of IVTA depot injection at the end of PPV. PATIENTS AND METHODS: Retrospective records review of all patients treated at the Cincinnati Eye Institute with PPV between January 1, 2011, and December 31, 2017, who developed a triad of sterile endophthalmitis, atrophic retinal breaks under the depot IVTA in the inferior retina, and rhegmatogenous retinal detachment (RRD). Eyes with flap tears, solely superior breaks, or stretch holes from proliferative vitreoretinopathy causing RRD were excluded. RESULTS: Eight eyes of eight patients (four males and four females; mean age: 73.7 years) who received 4 mg or 8 mg IVTA depot at the end of PPV surgery presented at a mean of 23.5 days following PPV with RRD (one macula-involving, seven macula-sparing), requiring treatment with PPV in six eyes and laser retinopexy alone in two eyes. Seven eyes that underwent membrane peeling (MP) received IVT to prevent cystoid macular edema (CME) and one eye with prior MP was treated for CME. Mean vitreous inflammation was 2+ cell at 1 week postoperatively. Two patients had documented sterile endophthalmitis within the first week requiring vitreous cultures and antibiotics injections. Visual acuity (VA) for eyes requiring PPV for RD repair declined from 20/90 preoperatively to 20/212 at 6 months postoperatively. VA for eyes amenable to laser alone improved from 20/53 to 20/35. All eyes remained attached, with the exception of one patient who refused further treatment after developing recurrent detachment from PVR. CONCLUSIONS: Particle-induced sterile endophthalmitis from IVTA depot at the end of PPV surgery resulted in atrophic inferior retinal breaks and RRD as a newly described entity coined "erosive retinopathy." All retinal detachment surgeries required silicone oil tamponade. Poor visual outcome at 6 months was common for eyes requiring PPV for RD repair. The authors recommend avoiding IVTA depot injection at the end of PPV. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:613-619.].

Prognostic Factors in Patients with Persistent Full-Thickness Idiopathic Macular Holes Treated with Re-Vitrectomy with Autologous Platelet Concentrate.

PURPOSE: To identify the predictors for anatomical and functional outcome after re-vitrectomy with application of autologous platelet concentrate (APC) in eyes with persistent idiopathic macular hole (MH). METHODS: Retrospective study of 103 eyes with persistent MHs after vitrectomy with peeling of internal limiting membrane (ILM) and expansive gas. All patients underwent re-vitrectomy with APC and endotamponade. The anatomical MH closure rate and postoperative best-corrected visual acuity (BCVA) were evaluated. Further, predictive factors influencing the success of the surgery were analyzed. RESULTS: Median BCVA (logMAR) before the surgery was 1.00 (interquartile range [IQR] 0.80-1.30) and the median of minimum diameter between hole edges was 508 µm (IQR 387-631). The final closure rate after re-vitrectomy with APC was 60.2% (62 of 103 eyes). The following predictors were identified to significantly influence the closure rate: tractional hole index (THI), axial length, time between first and second surgery, and the experience of the surgeon (p < 0.05). CONCLUSIONS: Re-vitrectomy with APC led to the closure of 60.2% of the persistent MHs. The closure rate negatively correlates with increasing axial length, time between the first and second surgery, and the decreased THI. Further, experienced surgeons (with a history of >100 pars plana vitrectomies with ILM peeling) had significantly higher closure rates.

Incidence and impact factors of intraoperative loss of light perception under sub-Tenon's anesthesia in patients with macular diseases.

PURPOSE: To investigate the incidence and impact factors of intraoperative loss of light perception (LP) under sub-Tenon's anesthesia in patients with macular diseases. METHODS: Eighty-five consecutive patients received standard phacoemulsification combined pars plana vitrectomy (PPV) under sub-Tenon's anesthesia. At several checkpoints during the surgery (the end of phacoemulsification, the end of vitrectomy, and the end of surgery), participants were interviewed about whether they had LP or not after removing the influence of contralateral eye and the photo-bleaching effect. In patients treated with retinal photocoagulation, visual experience on laser flashes was evaluated. RESULTS: Under routine draping, no patients reported loss of LP at all the checkpoints. When the contralateral eye was tightly covered, the rates of LP loss were 84.7%, 97.6%, and 87.1% at the end of phacoemulsification, the end of vitrectomy, and the end of surgery, respectively. When the photo-bleaching effect was also removed, the rates of LP loss were 61.2%, 82.4%, and 56.5% at each checkpoint, respectively, and there were 87.1% (74/85) of patients reporting visual loss in at least one checkpoint. In addition, 76.9% (50/65) of patients could not feel laser flashes during retinal photocoagulation. CONCLUSION: Intraoperative loss of LP under sub-Tenon's anesthesia was a relatively common and reversible event. The conduction block of optic nerve by anesthetic mainly contributed to the visual loss during surgery. Photo-bleaching effect also has some effect on the LP evaluation. Surgeons need to inform and counsel the patients about the intraoperative loss of LP, to prevent any sudden panic attacks in them.

Five-year nationwide incidence of macular hole requiring surgery in Korea.

BACKGROUND/AIMS: To estimate the incidence and demographics of macular hole (MH) requiring surgery in Korea. METHODS: Patients who underwent surgery for MH in Korea from 2011 to 2015 with the diagnostic code for MH and the surgical code for vitrectomy were retrospectively identified using the Korean national health claims database. The average incidence rate of MH during the 5-year study period was estimated by applying the direct method of standardisation using the 2015 census data as a reference population. RESULTS: A total of 7301 patients with MH requiring surgery were identified. The average incidence of MH requiring surgery was 3.14 (95 % CI, 3.07 to 3.21) per 100 000 person-years . The incidence in women (4.29 per 100 000 person-years; 95% CI, 4.17 to 4.40) was significantly higher than that in men (2.00 per 100 000 person-years; 95% CI, 1.92 to 2.07; p<0.001). The incidence rate of MH increased exponentially with increasing age between the ages of 35 years and 69 years and was highest among patients aged 65-69 years. The female-to-male ratio for the incidence of MH was 2.15:1. CONCLUSIONS: This study represents the largest nationwide population-based investigation of the incidence of MH, using a database that covers the entire population of South Korea. MH is the disease of elderly peaked 70 years old and more common in women.

Vitrectomy with silicone oil tamponade for retinal detachment associated with giant retinal tears: Favourable outcomes without adjuvant scleral buckling.

PURPOSE: To evaluate the outcomes of pars plana vitrectomy with silicone oil tamponade in the management of retinal detachment associated with giant retinal tears. METHODS: We reviewed 45 eyes of 42 patients with primary retinal detachment associated with giant retinal tears over 10 years at a tertiary referral centre. Patients underwent 23-gauge vitrectomy without adjuvant scleral buckling by a single surgeon and had follow-up at least 6 months after silicone oil removal. RESULTS: Mean follow-up was 37 ± 35 months. Seven eyes (16%) had grade C proliferative vitreoretinopathy, and 16 (36%) had a giant retinal tear ≥180° at baseline. The primary reattachment rate was 84%, and the overall final anatomical success rate was 98%. The mean Snellen visual acuity equivalent at the final visit was 20/58. Final visual acuity ≥20/40 was achieved in 64%. The mean duration of silicone oil tamponade was 10.5 ± 4 weeks. By the final visit, silicone oil had been removed from 44 eyes (98%). CONCLUSION: The high rates of anatomical and functional success support management of giant retinal tears-associated retinal detachment with vitrectomy without adjuvant scleral buckling. Removal of silicone oil at the earliest possible time helps to avoid complications such as keratopathy, glaucoma and visual loss without apparent reason.

Multimodal imaging of foveoschisis and macular pseudohole associated with gyrate atrophy: a family report.

BACKGROUND: To report the results of multimodal imaging of a biochemically confirmed case of a family with gyrate atrophy (GA) associated with foveoschisis and macular pseudohole. CASE PRESENTATION: Two sisters presented to us with progressive bilateral decreased vision. The 26-year old sister had a best corrected visual acuity (BCVA) of 20/32 in the right eye (RE) and 20/100 in the left eye (LE). Dilated fundus examination revealed multiple bilateral chorioretinal atrophy areas in the midperipheral and peripheral retina. Fluorescein angiography did not show any leak in the macular area. Swept-source optical coherence tomography (SS-OCT) showed increased central macular thickness in both eyes with foveoschisis. Optical coherence tomography angiography (OCTA) showed petaloid non-reflective areas and some perifoveal microvascular alterations similar to telangiectasias in the deep capillary complex. The 30-year-old sister had a BCVA of 20/20 in the RE and 20/32 in the LE. SS-OCT was normal in the RE and demonstrated a macular pseudohole with a fine epiretinal membrane in the LE. The persistent retinal tissue at the base of the pseudohole was disorganised. Blood tests showed hyperornithinemia in the 2 cases. Based on these observations, the patients were diagnosed with gyrate atrophy of the choroid and retina and were treated with a pyridoxine supplement and an arginine-restricted diet. CONCLUSIONS: Foveoschisis and macular pseudohole may be associated in GA, increasing the risk of rapid vision loss. OCTA is an interesting imaging tool that can help to better understand the pathophysiological mechanism of these macular involvements in GA.