Cristina Irigoyen

Objective: The aim of this study was to evaluate the clinical outcomes of sutureless scleral-fixated (SSF) Soleko Fil Carlevale intraocular lens (SC-IOL) implants associated with pars plana vitrectomy (PPV) in patients with aphakia secondary to complicated cataract surgery or IOL luxation nationwide. Methods: A multicenter, national, retrospective study of 268 eyes (268 patients) which underwent simultaneous PPV and SC-IOL implantation was conducted. Demographics; ocular data; pre-surgical, surgical and post-surgical details; and refractive results were collected. Intra- and postoperative complications and management details were described. Best-corrected visual acuity (BCVA), intraocular pressure (IOP) and central retinal thickness (CRT) were collected at 1 week and at 1, 3, 6 and 12 months post-surgery. Kaplan–Meier curves were constructed to assess the cumulative probability of postoperative BCVA, IOP levels, macular edema (ME) and corneal decompensation. Results: The cumulative probability of final VA ≤ 0.3 logMAR was 64.4% at 12 months follow-up. The probability of IOP > 21, ≥25 and ≥30 mmHg was 29.8%, 16.9% and 10.1%, respectively, and the cumulative probability of IOP-lowering treatment was 42.3% at 12 months. Glaucoma surgery was required in 3.7% of the eyes (10/268). The cumulative probability of postoperative ME development was 26.6% at 12 months, managed with topical treatment alone (73.5%) and intravitreal injections (26.5%). Corneal transplantation was required in 3.7% of the eyes (10/268). Conclusions: Sutureless scleral-fixated SC-IOL is an adequate therapeutic alternative in the management of aphakia with good visual results and an acceptable safety profile in routine clinical care. Longer-term studies are needed to evaluate its results and complications compared to other therapeutic alternatives.

Inherited retinal dystrophies (IRD, see Abbreviations) are a group of genetic disorders characterized by progressive degeneration of the retina, leading to vision loss. These conditions often present with complications such as posterior subcapsular cataracts (PSC), which can significantly impair vision. Additionally, vitreoretinal (VR) complications such as epiretinal membrane (ERM), vitreomacular traction (VMT), and macular hole (MH) are common. Treatment of these complications is surgical. One of the goals of this chapter will be to focus on the prevalence, surgical indications, and pre- and postoperative evaluation in patients with retinal dystrophies and these complications. The growing importance of gene therapy in recent years is also recognized, particularly as a potential tool for enhancing visual function in patients with IRD. Accessing through subretinal space (SRS), the potential area between the neurosensory retina and the retinal pigment epithelium (RPE), allows direct contact of the drug with photoreceptors and RPE, optimizing the concentration of the drug in these cells. We also want to offer in this chapter an insight into the current subretinal injection.

PRPH2, one of the most frequently inherited retinal dystrophy (IRD)-causing genes, implies a high phenotypic variability. This study aims to analyze the PRPH2 mutational spectrum in one of the largest cohorts worldwide, and to describe novel pathogenic variants and genotype–phenotype correlations. A study of 220 patients from 103 families recruited from a database of 5000 families. A molecular diagnosis was performed using classical molecular approaches and next-generation sequencing. Common haplotypes were ascertained by analyzing single-nucleotide polymorphisms. We identified 56 variants, including 11 novel variants. Most of them were missense variants (64%) and were located in the D2-loop protein domain (77%). The most frequently occurring variants were p.Gly167Ser, p.Gly208Asp and p.Pro221_Cys222del. Haplotype analysis revealed a shared region in families carrying p.Leu41Pro or p.Pro221_Cys222del. Patients with retinitis pigmentosa presented an earlier disease onset. We describe the largest cohort of IRD families associated with PRPH2 from a single center. Most variants were located in the D2-loop domain, highlighting its importance in interacting with other proteins. Our work suggests a likely founder effect for the variants p.Leu41Pro and p.Pro221_Cys222del in our Spanish cohort. Phenotypes with a primary rod alteration presented more severe affectation. Finally, the high phenotypic variability in PRPH2 hinders the possibility of drawing genotype–phenotype correlations.

Inherited retinal dystrophies (IRDs) affect an estimated 1 in every 2000 people, this corresponding to nearly 2 million cases worldwide. Currently, 270 genes have been associated with IRDs, most of them altering the function of photoreceptors and retinal pigment epithelium. Gene therapy has been proposed as a potential tool for improving visual function in these patients. Clinical trials in animal models and humans have been successful in various types of IRDs. Recently, voretigene neparvovec (Luxturna^®) has been approved by the US Food and Drug Administration for the treatment of biallelic mutations in the RPE65 gene. The current state of the art in gene therapy involves the delivery of various types of viral vectors into the subretinal space to effectively transduce diseased photoreceptors and retinal pigment epithelium. For this, subretinal injection is becoming increasingly popular among researchers and clinicians. To date, several approaches for subretinal injection have been described in the scientific literature, all of them effective in accessing the subretinal space. The growth and development of gene therapy give rise to the need for a standardized procedure for subretinal injection that ensures the efficacy and safety of this new approach to drug delivery. The goal of this review is to offer an insight into the current subretinal injection techniques and understand the key factors in the success of this procedure.

(1) Objective: To determine the incidence, visual outcomes and risk factors associated with the recurrence of primary retinal detachment (RD) in a tertiary hospital. (2) Methods: A retrospective observational study was conducted, and data were collected on all eyes diagnosed with primary RD between January 2017 and December 2020. A detailed database was generated with data on anatomic and visual outcomes, and surgical technique information, for all the cases. (3) Results: 570 eyes with primary RD were included. Mean annual incidence of primary RD was 21.8 cases per 100,000 inhabitants. Mean follow-up time was 465 (±410.5) days. Mean time to redetachment was 114.4 (±215.8) days, with the median being 35 days. Statistically significant variables related to a higher risk of recurrence were: male sex (p = 0.04), type of tamponade (p = 0.01), surgeon (p = 0.035), inferonasal (p = 0.002) and inferotemporal (p = 0.032) involvement, complex RD (p < 0.001) and ocular comorbidity (p < 0.001). More satisfactory final visual acuity (VA) in patients not suffering redetachment was associated with shorter duration of central vision loss. (4) Conclusions: Sex, type of tamponade, inferior detachment, RD complexity, surgeon and ocular comorbidity were identified as prognostic factors for recurrence. Worse final postoperative VA was found in patients referring central vision loss for more than 4 days before surgery.

Purpose: To explore whether the virtual retina clinic (VRC) has been a useful and safe platform for monitoring retinal diseases during the COVID-19 pandemic and assessing patient satisfaction. Methods: A prospective observational study was conducted for patients with stable retinal diseases in Donostia University Hospital’s Ophthalmology Service during the pandemic. All patients were assessed in the VRC with optical coherence tomography of the macula and widefield retinography, plus visual field tests in hydroxychloroquine retinopathy screenings. The VRC´s effectiveness was evaluated with repeat blind assessments and patient satisfaction with an adapted SERVQUAL scale. Results: The most common diseases were diabetic retinopathy (30.3%) and age-related macular degeneration (21.8%). Most patients (74%) were eligible to continue in the VRC, 19.3% were referred to face-to-face (F2F) appointments and 6.6% were discharged. Patients underwent repeat blind assessments in F2F appointments to monitor VRC performance in 23.7% of the cases. The sensitivity to detect disease progression was 100%. The specificity was 80.1%. The VRC took half the time. The patient overall satisfaction rating was 9.8/10. Conclusion: The VRC, as an additional platform, supports F2F appointments. Almost three-quarters of patients could continue being safely seen in the VRC. The virtual approach decreases SARS-CoV-2 exposure. Patient satisfaction is very good. Translational Relevance: The VRC enables us to attend patients safely with decreased SARS-CoV-2 exposure.

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Inherited retinal diseases (IRD) are a heterogeneous group of diseases that mainly affect the retina; more than 250 genes have been linked to the disease and more than 20 different clinical phenotypes have been described. This heterogeneity both at the clinical and genetic levels complicates the identification of causative mutations. Therefore, a detailed genetic characterization is important for genetic counselling and decisions regarding treatment. In this study, we developed a method consisting on pooled targeted next generation sequencing (NGS) that we applied to 316 eye disease related genes, followed by High Resolution Melting and copy number variation analysis. DNA from 115 unrelated test samples was pooled and samples with known mutations were used as positive controls to assess the sensitivity of our approach. Causal mutations for IRDs were found in 36 patients achieving a detection rate of 31.3%. Overall, 49 likely causative mutations were identified in characterized patients, 14 of which were first described in this study (28.6%). Our study shows that this new approach is a cost-effective tool for detection of causative mutations in patients with inherited retinopathies.

Purpose: To analyze the surgical outcomes and complication rates in a group of patients with refractory glaucoma who underwent simultaneous pars plana vitrectomy (PPV) and PC7 or PC8 Ahmed glaucoma valve (AGV) implantation. Methods: Retrospective case series study of 10 eyes in 9 patients with secondary glaucoma, refractory to other treatment, who underwent 23G-PPV and implantation of PC7 or PC8 AGV between 2012 and 2014. Study variables were postoperative BCVA, IOP and the number of glaucoma medications, which were evaluated preoperatively and at 1 day, 1 week and 1, 3, 6, and 12 months after the surgical intervention. Absolute success was defined as lOP less than 21 mmHg in the absence of any medication and qualified success if medication was needed to control 10P under 21 mmHg. Results: The average follow-up was 10.2 +/- 2.89 months. Postoperative 10P levels decreased in all cases in comparison with preoperative values (p < 0.05). Absolute success rate was 60%, reaching 100% in terms of qualified success. Kaplan-Meier survival analysis showed 60% absolute success at 12 months. Changes in postoperative BCVA were not statistically significant in comparison with preoperative data. Early postoperative complications were athalamia, hyphema, and retinal detachment; late complications were pars plana clip extrusion and cystic bleb. Conclusions: PC7 and PC8 Ahmed valve implantation via pars plana is a safe and useful option in patients with secondary refractory glaucoma who are either candidates for PPV or have been previously vitrectomized.

Retinitis pigmentosa is the most frequent group of inherited retinal dystrophies. It is highly heterogeneous, with more than 80 disease-causing genes 27 of which are known to cause autosomal dominant RP (adRP), having been identified. In this study a total of 29 index cases were ascertained based on a family tree compatible with adRP. A custom panel of 31 adRP genes was analysed by targeted next-generation sequencing using the Ion PGM platform in combination with Sanger sequencing. This allowed us to detect putative disease-causing mutations in 14 out of the 29 (48.28%) families analysed. Remarkably, around 38% of all adRP cases analysed showed mutations affecting the splicing process, mainly due to mutations in genes coding for spliceosome factors (SNRNP200 and PRPF8) but also due to splice-site mutations in RHO. Twelve of the 14 mutations found had been reported previously and two were novel mutations found in PRPF8 in two unrelated patients. In conclusion, our results will lead to more accurate genetic counselling and will contribute to a better characterisation of the disease. In addition, they may have a therapeutic impact in the future given the large number of studies currently underway based on targeted RNA splicing for therapeutic purposes.