Outcomes of rhegmatogenous retinal detachment surgery in patients with Stickler syndrome.

PURPOSE: Despite recent developments in vitrectomy technology and instrumentation, rhegmatogenous retinal detachment in Stickler syndrome (RDS) remains a challenge for surgeons. RDSs are associated with a higher rate of complications and surgical failures than those not associated with Stickler syndrome. This study is a report about anatomic and visual outcomes of RDS surgery and describes the surgical techniques associated with the treatment of this specific condition. METHODS: This is a retrospective, interventional, consecutive case series of patients with RDS undergoing retinal reattachment surgery from 1990 to 2020 at the Institute of Ocular Microsurgery (IMO) in Barcelona, Spain. RESULTS: Twenty-four eyes of 18 patients with genetically confirmed Stickler syndrome were included in the study. Ten eyes (41.6%) presented a giant retinal tear. Retinal reattachment was achieved in all cases after an average of 1.21 (range 1-6) surgical interventions. Nineteen eyes (79%) required only one operation to achieve complete retinal reattachment. The most common first surgical procedure was a 4-mm scleral buckle with posterior pars plana vitrectomy and silicone oil endotamponade, performed on 16 (66.6%) of the eyes. The mean follow-up period was 10.2 years. Mean preoperative visual acuity LogMar was 1.10 (Snellen equivalent 20/252), which improved to 0.50 (Snellen equivalent 20/63) at final follow-up (p < 0.05). CONCLUSION: In most RDS cases, anatomic success and visual acuity improvement can be achieved with the first surgical procedure, using a combination of silicone oil tamponade and a 4-mm scleral encircling band. In some early cases of RDS, other less invasive surgical techniques can be used.

Comparison of United States and International Ophthalmic Drug Pricing.

PURPOSE: To compare United States and international drug pricing for commonly prescribed intravitreal and topical ophthalmic medications. DESIGN: Cross-sectional observational study. METHODS: For 25 commonly used ophthalmic medications (3 intravitreal, 22 topical), we obtained 2017 third quarter United States average wholesale price (AWP), drug acquisition cost, or consumer pricing through United States government health insurance plans (Veterans Affairs [VA], Medicaid, Medicare Part B, and Medicare Part D) and commercial drug plans (CVS Caremark and Navitus Health Solutions), online pricing without insurance through a large United States warehouse retailer (Costco), and international drug pricing through government-sponsored health plans in Italy, Spain, Turkey, Canada, and Japan. MAIN OUTCOME MEASURES: Drug acquisition costs and consumer pricing of ophthalmic drugs through various payment systems. All prices were converted to United States dollars. RESULTS: For intravitreal medications in the United States, aflibercept and ranibizumab were priced similarly to each other and were more expensive than dexamethasone implants. Pricing of aflibercept and ranibizumab through government health insurance plans in Italy, Spain, Turkey, Canada, and Japan were less expensive by as much as 84.3% compared with the United States. For topical medications in the United States, pricing varied significantly both across different classes of medications and also between nonbranded and branded medications. Drug acquisition costs through the VA and Medicaid were inexpensive on average, but pricing through a hospital-employee drug insurance plan offered the smallest range (between $2.35 and $60.00). In all 5 non-United States countries studied, each topical medication with the exceptions of cyclosporine emulsion and difluprednate was less than $100, and 94.4% of topical medications in these countries had a nonbranded or branded option that was less than $50. CONCLUSIONS: In the United States, for topical more than intravitreal medications, significant price variation exists across both different drug pricing systems and different medications. Price differentials between nonbranded and branded medications can be significant. Internationally, topical medications exhibited a more limited and lower price range compared with drug pricing in the United States.

Characterization of the cone-rod dystrophy retinal phenotype caused by novel homozygous DRAM2 mutations.

Cone-rod dystrophies (CRD) are a group of Inherited Retinal Dystrophies (IRD) characterized by the primary involvement of cone photoreceptors, resulting in the degeneration of the central retina, or macula. Although there are more than 55 CRD genes, a considerable percentage of cases remain unsolved. In this context, the present study aimed to describe and characterize the phenoptype and the genetic cause of 3 CRD families from a cohort of IRD cases. Clinical evaluation in each patient was supported by a complete ophthalmological examination, including visual acuity measurement, fundus retinography, fundus autofluorescence imaging, optical coherence tomography and full-field electroretinography. Molecular diagnoses were performed by whole exome sequencing analyzing a group of 279 IRD genes, and cosegregation of the identified pathogenic variants was confirmed by Sanger sequencing. Three novel homozygous mutations in the autophagy gene DRAM2 were identified as the molecular cause of disease in the three families: c.518-1G>A, c.628_629insAG and c.693+2T>A. Clinical data revealed that the 3 patients presented a shared CRD phenotype with adult-onset macular involvement and later peripheral degeneration, although the age of onset, evolution and severity were variable. In order to characterize the transcription effects of these variants, mRNA expression studies were performed. The results showed alterations in the DRAM2 transcription, including alternative splicing forms and lower levels of mRNA, which correlated with the phenotypic variability observed between patients. For instance, frameshift mutations were related to a less severe phenotype, with circumscribed mid-peripheral involvement, and lower levels of mRNA, suggesting an activation of the nonsense-mediated decay (NMD) pathway; while a more severe and widespread retinal degeneration was associated to the inframe alternative splicing variant reported, possibly due to a malfunctioning or toxicity of the resulting protein. Following these findings, DRAM2 expression was assessed in several human tissues by semi-quantitative RT-PCR and two isoforms were detected ubiquitously, yet with a singular tissue-specific pattern in retina and brain. Altogether, although the unique retinal phenotype described did not correlate with the ubiquitous expression, the retinal-specific expression and the essential role of autophagy in the photoreceptor survival could be key arguments to explain this particular DRAM2 phenotype.

Comparative study of penetrating keratoplasty and vitreoretinal surgery with Eckardt temporary keratoprosthesis in ocular trauma versus non-trauma patients.

PURPOSE: To evaluate the effectiveness of temporary keratoprosthesis combined with vitreoretinal surgery and penetrating keratoplasty in patients with or without trauma. METHODS: This retrospective study included 49 eyes in 49 non-trauma patients and 51 eyes in 48 ocular trauma patients who underwent penetrating keratoplasty and vitreoretinal surgery with Eckardt temporary keratoprosthesis between 2009 and 2016, with a follow-up of at least 12 months. Study variables included previous corneal, glaucoma, or retinal surgeries; various intraoperative surgical maneuvers; lens status; vitreoretinal and corneal pathology; functional outcomes; anatomical retinal reattachment; graft clarity; and need for glaucoma surgery or treatment. RESULTS: The mean age was 56 years in the non-trauma group and 42 years in the ocular trauma group. A total of 45% of the non-trauma cases and 24% of the ocular trauma cases had a single functional eye. Pseudophakic and aphakic keratopathy was diagnosed in 41% of the non-trauma group and corneal laceration in 65% of the ocular trauma group. In the ocular trauma group, injuries were open globe injury in 78%, closed globe injury in 12%, and intraocular foreign body in 10%. Retinal detachment with proliferative vitreoretinopathy was present in 39% of patients in the non-trauma group and in 35% of the ocular trauma group. Improvement or stability of visual acuity was higher among ocular trauma patients (86%) than in non-trauma patients (78%). The rate of clear corneal grafts was 49% in both groups. Retinal attachment was achieved in 90% and 78% of patients in the non-trauma and ocular trauma groups, respectively. The use of retinotomy had a positive influence on the final attached retina (p = 0.016). The placement of a scleral buckle significantly increased the risk of glaucoma (p = 0.004). Poor functional outcome was related to persistent retinal detachment (10% versus 16% in the non-trauma and ocular trauma groups, respectively), phthisis (25% versus 12%), hypotony (33% versus 18%), corneal graft end failure (51% in both groups), and secondary glaucoma (18% versus 24%). CONCLUSION: In patients with both vitreoretinal and corneal pathology, the use of Eckardt temporary keratoprosthesis combined with vitreoretinal surgery and penetrating keratoplasty resulted in improvement of visual acuity, particularly in the groups of ocular trauma and monocular patients. The high rate of retinal reattachment and the low rate of graft rejection was probably related to the use of new vitreoretinal techniques, including retinotomy in selected patients.

A multicenter, 12-month randomized study comparing dexamethasone intravitreal implant with ranibizumab in patients with diabetic macular edema.

PURPOSE: To evaluate whether treatment with dexamethasone intravitreal implant (DEX implant) 0.7 mg every 5 months provides a similar average change in best-corrected visual acuity (BCVA) from baseline as ranibizumab 0.5 mg administered as per its European Summary of Product Characteristics in patients with diabetic macular edema (DME). METHODS: This was a multicenter, open-label, 12-month, randomized, parallel-group, noninferiority study in patients with DME (one eye/patient). The primary efficacy measure was BCVA using the Early Treatment Diabetic Retinopathy Study (ETDRS) method. Secondary efficacy measures included area of leakage on fluorescein angiography and central retinal thickness (CRT) on optical coherence tomography. RESULTS: Baseline patient characteristics were similar in the two treatment groups (DEX implant, n = 181; ranibizumab, n = 182); mean DME duration was ∼33 months. The mean average BCVA change from baseline over 12 months was 4.34 letters with DEX implant and 7.60 letters with ranibizumab. The lower limit of the 95 % confidence interval of the between-group difference was -4.74 letters, and therefore, DEX was demonstrated to be noninferior to ranibizumab based on the prespecified noninferiority margin of 5 letters. At monthly follow-up visits, the percentage of patients with ≥15-letter BCVA gain from baseline ranged from 7.2 to 17.7 % with DEX implant and 4.4 to 26.9 % with ranibizumab. Both DEX implant and ranibizumab effectively reduced CRT and reduced the area of fluorescein leakage. Between-group differences in change from baseline CRT favored DEX implant at 1, 2, 6, and 7 months (p ≤ 0.007) and ranibizumab at 4, 5, 9, and 10 months (p < 0.001); the decrease in fluorescein leakage area was greater with DEX implant than ranibizumab at month 12 (p < 0.001). Ocular adverse events in the study eye were more frequent in the DEX implant group because of the occurrence of intraocular pressure (IOP) increases and cataract. IOP increases were transient and generally managed with topical medication. CONCLUSIONS: Both DEX implant and ranibizumab were well tolerated and improved BCVA and anatomic outcomes in patients with DME. DEX implant met the a priori criterion for noninferiority to ranibizumab in average change from baseline BCVA over 12 months. Noninferiority was achieved with an average of 2.85 DEX implant injections and 8.70 ranibizumab injections per patient.

Endoresection technique with/without brachytherapy for management of high posterior choroidal melanoma: extended follow-up results.

PURPOSE: To evaluate the long-term efficacy and safety of endoresection for high posterior choroidal melanoma. METHODS: Retrospective nonrandomized interventional case series. Forty-one patients had endoresection as primary treatment for posterior choroidal melanoma. Of these, 21 patients had adjuvant brachytherapy. The inclusion criteria were tumor thickness ≥8 mm, base diameter <15 mm, and posterior tumors not extending anterior to the equator. Main outcomes measures were enucleation rate, visual outcome, surgical complications, local recurrence, metastasis, and mortality. RESULTS: Mean follow-up time was 102.5 months. Mean preoperative best-corrected visual acuity was 20/100. Mean tumor thickness was 9.8 mm (range, 7.7-13.5 mm; standard deviation, 1.7 mm), mean base diameter was 9.9 mm (range, 5-15 mm; standard deviation, 2.8 mm). At the latest visit, 36 patients (87.8%) still retained the eye. Mean postoperative best-corrected visual acuity was 20/1,625. Retinal detachment was the main postoperative complication (28.9%). At completion of follow-up, 12% of patients had phthisis bulbi, and 3 developed chronic hypotony. Five patients (12.2%) had local tumor recurrence; none of them had received brachytherapy as initial treatment. At 5 years of follow-up, 3 patients (7.3%) had liver metastasis. On Kaplan-Meier analysis at 10 years, all-cause mortality was 7.3% and specific mortality because of melanoma was 2.4%. CONCLUSION: Endoresection of high posterior melanomas was not associated with a higher risk of metastasis, death, or local recurrence than other reported techniques used to treat similar melanomas.

Management of Vision-Threatening Complications of Vasoproliferative Tumors of the Retina.

AIMS: To report the management of vision-threatening complications of vasoproliferative tumors of the retina. METHODS: Clinical records of 31 eyes of 30 patients treated at our centers from 1998 through 2013 were reviewed. The main outcome measures included: type of treatment, tumor regression, tumor relapse and final visual acuity. RESULTS: Seventeen patients (57%) underwent vitrectomy for epimacular membranes (n = 10), rhegmatogenous retinal detachment (n = 2), vitreous hemorrhage (n = 2), tractional retinal detachment (n = 1), serous retinal detachment (n = 1) and subhyaloid hemorrhage (n = 1). After the initial treatment, 10 additional surgeries were performed for vitreoretinal complications. Tumor activity was treated in all eyes either with photocoagulation or cryotherapy. Control of tumor activity was achieved in all cases, after treatment of recurrences. There were no statistically significant differences between initial and final visual acuity (p = 0.437). Recurrence showed a statistically significant association with the presence of proliferative vitreoretinopathy (p = 0.024), tumor thickness (p = 0.026), basal diameter (p = 0.031), and use of photocoagulation alone as initial treatment (p = 0.006, logistic regression). CONCLUSION: In our series, more than half of vasoproliferative tumors of the retina required surgery as the initial treatment. Recurrence was associated with tumor size, presence of proliferative vitreoretinopathy, and use of photocoagulation alone as the initial treatment.

Effect of intravitreal injection of dexamethasone 0.7 mg (Ozurdex®) on intraocular pressure in patients with macular edema.

BACKGROUND: To evaluate the effect of Ozurdex® on intraocular pressure in patients with macular edema alone (group 1) or associated with glaucoma or ocular hypertension (group 2). METHODS: A clinical, retrospective, observational, comparative study included 92 eyes with macular edema treated with a single injection of Ozurdex®; 27 eyes were previously diagnosed with glaucoma or ocular hypertension. RESULTS: The mean intraocular pressure (group 1 vs. group 2) after injection was 12.1 versus 19.9 mm Hg, (p < 0.05; day 1); 17.5 versus 19.7 mm Hg (p < 0.05; month 1); 18.4 versus 20.9 mm Hg (p < 0.05; month 2); 15 versus 17.4 mm Hg (p < 0.05; month 3); 13.9 versus 16.7 mm Hg (p > 0.05; month 6); 13.8 versus 15.1 mm Hg (p > 0.05; month 9) and 13.1 versus 16.4 mm Hg (p > 0.05; month 12). Thirty eyes (32.6%) showed ocular hypertension (intraocular pressure >21 mm Hg) after the injection: 21.5% of group 1 and 59.3% of group 2. In group 2, 27 eyes (100%) needed medical treatment to reduce intraocular pressure in comparison to 8 patients (12.3%) in group 1 (p < 0.001). CONCLUSIONS: Intravitreal injection of Ozurdex® was associated with ocular hypertension in 32.6% of the eyes. Previous glaucoma or ocular hypertension are risk factors for this increase.

Macular buckling for previously untreated and recurrent retinal detachment due to high myopic macular hole: a 12-month comparative study.

PURPOSE: To evaluate postoperative outcomes after macular buckling together with pars plana vitrectomy (PPV) in previously untreated and recurrent retinal detachment secondary to macular hole (MH) in highly myopic eyes. METHODS: In a retrospective cohort study, 42 eyes of 42 high myopic patients with retinal detachment due to MH were evaluated. Patients were divided into previously untreated retinal detachment (group 1, 21 eyes) and recurrent retinal detachment (group 2, 21 eyes). Macular buckling and PPV were performed in all patients. Main outcomes included retinal reattachment rate, macular hole closure rate and best-corrected visual acuity (BCVA) at 3, 6, and 12 months. Optical coherence tomography (OCT) was performed both pre- and postoperatively in all patients to assess the anatomical status of the macula. RESULTS: Primary retinal reattachment rate in group 1 was 95% (20/21), which increased to 100% (21/21) after a second surgery. MH closure was achieved in 81% of patients (17/21) after one surgery. The mean preoperative BCVA (logarithm of the minimum angle of resolution, LogMAR) improved from 1.32 (95% CI 1.19;1.44) to 0.76 (95% CI 0.56;0.96) 12 months postoperatively. In all except one case, gas tamponade was preferred. Primary reattachment and MH closure rate in group 2 were 90.5% (19/21) and 57% (12/21) respectively, and did not improve after a second surgery. Preoperative BCVA (LogMAR) was 1.39 (95% CI 1.29;1.49) and improved to 0.95 (95% CI 0.75;1.15) at 12 months. Silicone oil tamponade was used in seven of 21 patients, and finally was removed in five of them. CONCLUSIONS: Macular buckling combined with PPV should be considered a preferred surgical approach both in primary and recurrent retinal detachment secondary to MH in high myopic eyes. Nevertheless, visual outcomes seem to be better when macular buckling is chosen as first-line treatment.

Anatomical and visual outcomes in high myopic macular hole (HM-MH) without retinal detachment: a review.

PURPOSE: To review postoperative anatomical and functional outcomes in high myopic macular hole (HM-MH) without retinal detachment. METHODS: In the PubMed database, published articles on myopic macular hole surgery from 2000 to 2013 (present days) were reviewed. Inclusion criteria were high myopia and macular hole (MH). Series with posterior retinal detachment secondary to MH and myopic foveoschisis (MFS) without MH were excluded. Main outcomes included MH closure rate, resolution of the foveoschisis, if present, and postoperative visual acuity. Optical coherence tomography (OCT) features and postoperative evolution were also evaluated when reported. RESULTS: A total of 131 articles were initially found. After having applied the exclusion criteria, 15 articles were reviewed. Four were focused on HM-MH with concomitant foveoschisis (Schisis Group), and ten included only HM-MH without FS case series (Flat Group). Only one comparative study between these two groups was found. Surgical techniques were observed to be similar for both groups in most series, including vitrectomy with or without internal limiting membrane (ILM) removal, and gas or silicone oil tamponade. However, in one retrospective study, macular buckling was applied together with pars plana vitrectomy in cases of HM-MH with foveoschisis. When available, preoperative and postoperative OCT provided a useful evaluation of the status of the macula. Different prognosis were observed in the two groups in cases of vitreous surgery: anatomical success rate and functional outcomes for HM-MH with foveoschisis were markedly poorer than that for cases of HM-MH without foveoschisis, and multiple procedures might be required. By the contrast, better results seemed to be achieved using the posterior buckle technique for patients with HM-MH and concomitant foveoschisis. Moreover, when compared, final anatomical and functional outcomes seem to be less satisfactory than in emmetropic eyes. Postoperative non-closure or reopening of the macular hole is more common in eyes with HM-MH and concomitant foveoschisis, and possible retinal detachment may occur in these patients. CONCLUSIONS: Despite similar surgical procedures, anatomical and functional results after vitreous surgery in cases of HM-MH may be very different from series to series. The prognosis is generally better in cases involving only HM-MH without foveoschisis than in cases with MH and associated foveoschisis. Persistent MHs are more frequent in eyes with concomitant retinoschisis, and this seems to represent a possible risk factor for late retinal detachment in the case of unsuccessful vitreous surgery. However, although vitrectomy can lead to anatomical and visual improvements, an higher axial length > 30 mm and the presence of a posterior staphyloma seem to remain the two most important risk factors for poor visual outcomes. For these reasons, a different surgical approach, including macular buckling, might be considered in casse of HM-MH and concomitant myopic foveoschisis, in order to counteract the traction exerted by the posterior staphyloma.

Combined 23-gauge vitrectomy and femtosecond laser-assisted cataract surgery.

BACKGROUND: The aim of this study was to assess the safety and surgical results of femtosecond laser-assisted phacovitrectomy. METHODS: A retrospective analysis of the medical records of patients over 50 years of age with vitreoretinal pathology, who had undergone pars plana vitrectomy using 23-gauge instruments and femtosecond laser-assisted cataract surgery and implantation of an intraocular lens, was performed at the Instituto de Microcirugía Ocular between June 2012 and September 2013. The diameter of the anterior capsulorhexis was set at 4.8 mm in cases where a gas tamponade was used and at 5 mm in all other cases. During the pars plana vitrectomy, posterior capsulotomy was performed on all eyes. An assessment was carried out of preoperative characteristics, surgical indications, postoperative results and complications. Only patients with a minimum of 3 months of follow-up were included. RESULTS: A total of 21 eyes in 21 patients (71.4% women) were treated. Mean age (± SD) was 65.8 ± 6.4 years (range 53-76). The most common indication for surgery was epiretinal membrane (61.9%), followed by vitreous haemorrhage (23.8%) and macular hole (14.3%). The mean preoperative best corrected visual acuity (BCVA) was 0.81 ± 1.01 logMAR and the mean postoperative BCVA was 0.12 ± 0.19 logMAR (p = 0.003). 85.7% of patients improved their visual acuity. The remaining patients maintained their visual acuity. The only intraoperative complication related to femtosecond laser was 1 case of suction loss (4.8%). A patient with rhegmatogenous retinal detachment discovered during surgery required an additional circular scleral procedure and developed synechiaes in the early postoperative period (<1 month). There were no cases of subluxation of the intraocular lens. Mean follow-up was 6 months (range 3-14). CONCLUSIONS: The application of femtosecond laser in phacovitrectomy is a safe and effective technique that presents advantages compared to conventional techniques in cases of macular pathology and/or vitreous haemorrhage.

Dexamethasone intravitreal implant for treatment of patients with persistent diabetic macular edema.

PURPOSE: To report the 6-month anatomical and best-corrected visual acuity (BCVA) response after primary intravitreal dexamethasone implantation (Ozurdex®) in patients with refractory diabetic macular edema (DME). METHODS: Retrospective review of the medical records of 58 patients with decreased visual acuity, due to refractory DME, who underwent a single injection of Ozurdex between November 2010 and January 2012, at the Instituto de Microcirurgia Ocular, Barcelona, Spain. RESULTS: At baseline, the mean foveal thickness (FT) was 543.24 ± 156.51 µm. Mean (±SD) values of FT did decrease to 346.82 ± 123.74 µm at month 1 and 341.12 ± 129.64 µm at month 3. Data on the 6-month follow-up showed a mild increase to 420.16 ± 152.15 µm. All of the FT reduction outcomes were statistically significant, with respect to baseline data (p = 0.0001). The baseline BCVA data was 0.66 ± 0.36 logarithm of the minimum angle of resolution (logMAR). The mean BCVA improved to 0.52 ± 0.32 logMAR (p = 0.0001) and 0.44 ± 0.27 logMAR (p = 0.0001) after 1 and 3 months, respectively. At the last visit (6-month follow-up), the mean BCVA increased to 0.51 ± 0.31 logMAR (p = 0.0001). CONCLUSIONS: In this study, intravitreal treatment with a dexamethasone implant safely reduced DME and improved visual acuity in a difficult-to-treat patient population with long-standing refractory DME.

Cyclodialysis induced persistent hypotony: surgical management with vitrectomy and endotamponade.

PURPOSE: To report novel surgical approaches to the management of persistent hypotony after cyclodialysis. METHODS: Retrospective review of the medical records of six eyes of six patients with persistent hypotony after traumatic cyclodialysis. The diagnosis accuracy of cyclodialysis was documented by ultrasound biomicroscopy in five patients. The other one underwent an anterior segment optical coherence tomography. The authors performed pars plana vitrectomy and silicone oil-assisted endotamponade in four patients. The remaining eyes underwent a gas tamponade after pars plana vitrectomy. RESULTS: Preoperative visual acuity (Snellen scale) ranged from count fingers to 20/50. The patients' visual acuity improved after the surgery. The intraocular pressure ranged from 2 mmHg to 6 mmHg (mean, 3.33 mmHg) before surgery. The authors did achieve an intraocular pressure normalization postoperatively. After surgery, the ciliary body was completely reattached in all cases. A slight angle recession was documented in one eye. CONCLUSION: The management of cyclodialysis clefts requires a stepwise approach. In cases where conservative management fails, wide ranges of options have been reported. Based on our results, we consider that silicone oil-assisted or gas-assisted endotamponade, after pars plana vitrectomy, can be an effective alternative approach to the cyclodialysis.

Optic disk pit morphology and retinal detachment: optical coherence tomography with intraoperative correlation.

BACKGROUND: The pathogenesis of optic nerve head pits and associated retinal detachment, and the most effective surgical intervention when visual loss develops, remains unclear. METHODS: The morphology of the optic disk in patients with pits was investigated with optical coherence tomography. For those who underwent surgical treatment for pit-associated retinal detachment, the efficacy of treatment by vitrectomy and separation of the posterior hyaloid, with and without additional peeling of peripapillary tissue, was assessed. RESULTS: On optical coherence tomography imaging, 14 of 18 pits (78%) demonstrated a localized pit-like invagination, whereas 3 (17%) had disks with a generally excavated structure. For 16 of 18 pits (89%), there was evidence of condensed vitreous or glial tissue seen extending from the pit or inside the optic disk. Nine eyes with retinal detachment underwent vitrectomy, posterior hyaloid separation, and endolaser. The retinal detachment completely resolved in 6 of 6 cases where the surgeon additionally peeled the fibrous tissue from the pit and 2 of 3 cases where this was not performed. CONCLUSION: Spectral domain optical coherence tomography demonstrates the varying morphology of optic pit anatomy. Condensed vitreous strands or glial tissue in the optic nerve pit may also contribute to retinal detachment development.

Macular buckling for eyes with myopic foveoschisis secondary to posterior staphyloma.

PURPOSE: To determine the effectiveness of macular buckling in eyes with myopic foveoschisis and describe two methods of macular buckling: hard silicone implant and Ando plombe. METHODS: Sixteen eyes of 16 consecutive patients with myopic foveoschisis who underwent surgery with the macular buckling procedure were studied. Pars plana vitrectomy combined with macular buckling with hard silicone implant was used in 6 eyes, whereas the other 10 eyes underwent pars plana vitrectomy and macular buckling with the Ando macular plombe. RESULTS: Macular buckling, with both hard silicone implant and macular plombe resulted in reduction of retinal thickness in all patients. Best-corrected visual acuity improved in 14 of 16 eyes (87.5%), whereas it remained stable or decreased in 2 eyes (12.5%). Mean preoperative best-corrected visual acuity was 20/125 (mean logarithm of the minimal angle of resolution 0.8), whereas mean postoperative best-corrected visual acuity improved to 20/50 (mean logarithm of the minimal angle of resolution 0.39). Both methods showed a similar rate of complications, the most frequent being the development of localized areas of retinal pigment epithelium atrophy. CONCLUSION: Combined pars plana vitrectomy and macular buckling is an effective approach to treat myopic foveoschisis with both anatomical and visual improvement. Despite a similar complication rate with both buckling techniques, macular buckling with the Ando plombe was found to be technically easier with shorter surgical times.

Photodynamic therapy for symptomatic subretinal fluid related to choroidal nevus.

PURPOSE: The purpose of this article is to evaluate the role of photodynamic therapy (PDT) for symptomatic choroidal nevus with subretinal fluid (SRF) extending to the fovea. METHODS: Retrospective review of the medical records of all patients who underwent PDT for a symptomatic choroidal nevus with SRF. RESULTS: Seventeen patients were included in the study. The mean initial visual acuity was 20/80 (range, counting fingers to 20/20). The mean initial tumor thickness was 1.23 mm (range, 0.66-1.93 mm). All tumors presented at least 2 risk factors for growing (including orange pigment, symptoms, peripapillary location, SRF, and thickness >2 mm). The mean number of PDT sessions was 1.41 (range, 1-3). The mean final visual acuity improved to 20/60 (range, counting fingers to 20/20). Subretinal fluid was reduced in all eyes (100%) and had completely disappeared in 9 eyes (53%) after PDT. Of 9 cases with complete resolution of the SRF, 2 patients (22%) presented recurrence. The mean final tumor thickness increased to 1.24 mm (range, 0.66-2.01 mm) at a mean follow-up of 22.47 months (range, 6-60 months). Tumor thickness increased in 3 eyes (18%) and remained unchanged in 13 eyes (76%), and 1 lesion (6%) shrank down to a flat chorioretinal scar. CONCLUSION: Photodynamic therapy is a good treatment option to reduce SRF in symptomatic choroidal nevus with serous macular detachment. Further growth into melanoma was observed in 18% of cases. Thus, PDT may not allow a good local tumor control. Longer follow-up is required to determine its value in these patients.

Macular holes after rhegmatogenous retinal detachment repair: surgical management and functional outcome.

PURPOSE: To review the surgical management and functional outcome of macular holes (MHs) developing after rhegmatogenous retinal detachment repair. METHODS: Retrospective, interventional, noncomparative case series. Twenty patients with MH developing after rhegmatogenous retinal detachment repair were included. Pars plana vitrectomy with internal limiting membrane peeling and gas tamponade was performed. Macular attachment status and number of best-corrected visual acuity lines of improvement after MH repair were evaluated. RESULTS: The fovea had been detached in all eyes at the time of rhegmatogenous retinal detachment repair. Six MHs developed after scleral buckling surgery and 14 MHs after vitrectomy with an encircling band. In 5 of the 20 patients, ≥ 2 operations had been required to achieve retinal reapplication. The mean time to MH diagnosis was 38 weeks. Preoperative best-corrected visual acuity was ≤ 20/100 in all but one case. Single-operation MH closure rate was 100%, with a mean of 4 Early Treatment Diabetic Retinopathy Study lines of visual improvement (P < 0.001). Mean postoperative Snellen best-corrected visual acuity was 20/70 (± 0.15) (P < 0.001). CONCLUSION: In this small retrospective study, standard surgical treatment for idiopathic MH was effective in achieving anatomical closure of these secondary MHs, but visual acuity gain was limited by the previous macula-involving rhegmatogenous retinal detachment status.

Expanding the retinal phenotype of RP1: from retinitis pigmentosa to a novel and singular macular dystrophy.

PURPOSE: This study aimed to identify the underlying genetic cause(s) of inherited retinal dystrophy (IRD) in 12 families of Kuwaiti origin affected by macular dystrophy and four Spanish patients affected by retinitis pigmentosa (RP). METHODS: Clinical diagnoses were based on standard ophthalmic evaluations (best-corrected visual acuity, retinography, fundus autofluorescence imaging, optical coherence tomography, electroretinography and visual field tests). Panel-based whole exome sequencing was used to simultaneously analyse 224 IRD genes in one affected member of each family. The putative causative variants were confirmed by Sanger sequencing and cosegregation analyses. Haplotype analysis was performed using single nucleotide polymorphisms. RESULTS: A homozygous missense mutation c.606C>A (p.Asp202Glu) in RP1 was found to be the molecular cause of IRD in all 12 families from Kuwait. These patients exhibited comparable symptoms, including progressive decline in visual acuity since adolescence. Fundus autofluorescence images revealed bilateral macular retinal pigment epithelium disturbances, with neither perimacular flecks nor peripheral alterations. A shared haplotype spanning at least 1.1 Mb was identified in all families, suggesting a founder effect. Furthermore, RP1 variants involving nonsense and/or frameshifting mutations (three of them novel) were identified in three Spanish autosomal-recessive RP families and one dominant RP pedigree. CONCLUSION: This study describes, for the first time, a macular dystrophy phenotype caused by an RP1 mutation; establishing a new genotype-phenotype correlation in this gene, expanding its mutation spectrum and further highlighting the clinical heterogeneity associated with IRD.