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Purpose: To describe the clinical and genetic characteristics (mutation in RS1 gene) of a Spanish family with X-linked retinoschisis (XLRS) associated with retinitis punctata albescens (RPA). Methods: The detailed ophthalmological examination included best corrected visual acuity (BCVA), colour and autofluorescence photography, fluorescein angiography, optical coherence tomography and electrophysiology tests. A next-generation sequencing (NGS) strategy was applied to the index patient, and then sequenced in an Illumina NextSeq500 system. Candidate variants considered to be disease-causing in the patient were confirmed and segregated in the family by Sanger sequencing. Results: We have studied three siblings of 54, 59 and 50 years old. Two of them presented with macular foveoschisis and a whitish mottling of the pigment epithelium in the peripheral and equatorial retina, while the other had macular atrophy. Electroretinography revealed a reduced b-wave, while a-wave remained unchanged. Mutation in RS1 (c.98G>A; p.Trp33*) was identified as the cause of the disease. Conclusion: XLRS is a genetic disease that leads to irreversible visual loss. We describe an unusual phenotype manifestation of a known mutation.

[EN] Mutations in the ABCA4 gene are a common cause of Stargardt disease; however, other retinal phenotypes have also been associated with mutations in this gene. We describe an observational case report of an unusual clinical phenotype of Stargardt disease. The ophthalmological examination included best corrected visual acuity, color and autofluorescence photography, fluorescein angiography, optical coherence tomography, and electrophysiology tests. Targeted next-generation sequencing of 99 genes associated with inherited retinal dystrophies was performed in the index patient. A 48-year-old woman presented with a best corrected visual acuity of 20/25 and 20/20. Fundoscopy revealed perifoveal yellow flecked-like lesions. Fluorescein angiography and fundus autofluorescence findings were consistent with pattern dystrophy. Pattern electroretinogram demonstrated bilateral decrease of p50 values. Genetic testing identified two heterozygous missense mutations, c.428C>T, p.(Pro143Leu) and c.3113C>T, p.(Ala.1038Val), in the ABCA4 gene. Based on our results, we believe that these particular mutations in the ABCA4 gene could be associated with a specific disease phenotype characterized by funduscopic appearance similar to pattern dystrophy. A detailed characterization of the retinal phenotype in patients carrying specific mutations in ABCA4 is crucial to understand disease expression and ensure optimal clinical care for patients with inherited retinal dystrophies. [PT] Mutações no gene ABCA4 são causa comum da doença de Stargardt, mas outros fenótipos da retina também foram associados a mutações nesse gene. Apresentamos um relato de caso observacional de um fenótipo clínico incomum da doença de Stargardt. O exame oftalmológico incluiu a acuidade visual com melhor correção, fotografia em cores e com autofluorescência, angiofluoresceinografia, tomografia de coerência óptica e testes de eletrofisiologia. Na paciente em questão, realizou-se o sequenciamento de próxima geração de 99 genes associados a distrofias retinais hereditárias. Tratava-se de uma mulher de 48 anos com melhor acuidade visual corrigida de 20/25 e 20/20. A fundoscopia revelou lesões puntiformes amarelas perifoveais. Os resultados da angiofluoresceinografia e da autofluorescência do fundo de olho foram consistentes com distrofia em padrão. A eletrorretinografia por padrões mostrou diminuição bilateral dos valores de p50. Os testes genéticos revelaram duas mutações missense heterozigóticas, c.428C>T, p. (Pro143Leu) e c.3113C>T, p. (Ala.1038Val), no gene ABCA4. Nossos resultados nos fazem pensar que essas mutações específicas em ABCA4 talvez possam estar associadas a um fenótipo específico da doença, caracterizado por uma aparência fundoscópica semelhante à da distrofia em padrão. Uma caracterização detalhada do fenótipo da retina em pacientes portadores de mutações específicas em ABCA4 é crucial para compreender a expressão da doença e para garantir o tratamento clínico ideal para pacientes com distrofias retinais hereditárias. This work was supported by Instituto de Salud Carlos III (ISCIII), Spanish Ministry of Economy and Competitiveness and co-funded by European Union (ERDF, “A way to make Europe”) [PI15-01648] and [PI1800612]; regional Ministry of Economy, Innovation, Science and Employment [CTS-1664] and regional Ministry of Health and Families [PEER-0501-2019] of the Autonomous Government of Andalusia; Foundation Isabel Gemio/Foundation Cajasol [FGEMIO-2019-01].

[EN] Mutations in the ABCA4 gene are a common cause of Stargardt disease; however, other retinal phenotypes have also been associated with mutations in this gene. We describe an observational case report of an unusual clinical phenotype of Stargardt disease. The ophthalmological examination included best corrected visual acuity, color and autofluorescence photography, fluorescein angiography, optical coherence tomography, and electrophysiology tests. Targeted next-generation sequencing of 99 genes associated with inherited retinal dystrophies was performed in the index patient. A 48-year-old woman presented with a best corrected visual acuity of 20/25 and 20/20. Fundoscopy revealed perifoveal yellow flecked-like lesions. Fluorescein angiography and fundus autofluorescence findings were consistent with pattern dystrophy. Pattern electroretinogram demonstrated bilateral decrease of p50 values. Genetic testing identified two heterozygous missense mutations, c.428C>T, p.(Pro143Leu) and c.3113C>T, p.(Ala.1038Val), in the ABCA4 gene. Based on our results, we believe that these particular mutations in the ABCA4 gene could be associated with a specific disease phenotype characterized by funduscopic appearance similar to pattern dystrophy. A detailed characterization of the retinal phenotype in patients carrying specific mutations in ABCA4 is crucial to understand disease expression and ensure optimal clinical care for patients with inherited retinal dystrophies., [PT] Mutações no gene ABCA4 são causa comum da doença de Stargardt, mas outros fenótipos da retina também foram associados a mutações nesse gene. Apresentamos um relato de caso observacional de um fenótipo clínico incomum da doença de Stargardt. O exame oftalmológico incluiu a acuidade visual com melhor correção, fotografia em cores e com autofluorescência, angiofluoresceinografia, tomografia de coerência óptica e testes de eletrofisiologia. Na paciente em questão, realizou-se o sequenciamento de próxima geração de 99 genes associados a distrofias retinais hereditárias. Tratava-se de uma mulher de 48 anos com melhor acuidade visual corrigida de 20/25 e 20/20. A fundoscopia revelou lesões puntiformes amarelas perifoveais. Os resultados da angiofluoresceinografia e da autofluorescência do fundo de olho foram consistentes com distrofia em padrão. A eletrorretinografia por padrões mostrou diminuição bilateral dos valores de p50. Os testes genéticos revelaram duas mutações missense heterozigóticas, c.428C>T, p. (Pro143Leu) e c.3113C>T, p. (Ala.1038Val), no gene ABCA4. Nossos resultados nos fazem pensar que essas mutações específicas em ABCA4 talvez possam estar associadas a um fenótipo específico da doença, caracterizado por uma aparência fundoscópica semelhante à da distrofia em padrão. Uma caracterização detalhada do fenótipo da retina em pacientes portadores de mutações específicas em ABCA4 é crucial para compreender a expressão da doença e para garantir o tratamento clínico ideal para pacientes com distrofias retinais hereditárias., This work was supported by Instituto de Salud Carlos III (ISCIII), Spanish Ministry of Economy and Competitiveness and co-funded by European Union (ERDF, “A way to make Europe”) [PI15-01648] and [PI1800612]; regional Ministry of Economy, Innovation, Science and Employment [CTS-1664] and regional Ministry of Health and Families [PEER-0501-2019] of the Autonomous Government of Andalusia; Foundation Isabel Gemio/Foundation Cajasol [FGEMIO-2019-01].

[Aim] To assess the relationship between choroidal thickness and renal function in diabetic patients., [Methods] Cross-sectional retrospective clinical study of 42 eyes of 21 ocular treatment-na?ve diabetic patients. Demographic data included: age, sex, type and course of diabetes. Ocular data included: severity of diabetic retinopathy; retinal thickness at the central macular region, as well as choroidal thickness at the central and paracentral quadrants, using automatically generated maps by swept-source optical coherence tomography; presence of cystic macular edema; and ocular axial length (AXL). Lab-test parameters included: glycated hemoglobin (HbA1c), albuminuria, albumin/creatinine ratio in urine, and glomerular filtration rate., [Results] A significant negative correlation was mainly observed between several choroidal thicknesses, age (P, [Conclusion] Choroidal thickness can represent an additional tool to help clinicians predicting the renal status in ocular treatment-naïve diabetic patients., OFTARED “RD16/0008/0010”, funded by Instituto de Salud Carlos III, integrated in the national I+D+i 2013-2016 and co-funded by European Union (ERDF/ESF, “Investing in your future”).

Background: To characterize the phenotype and genotype of a rare syndrome associating posterior microphthalmos (PM), retinitis pigmentosa (RP), and foveoschisis in a consanguineous Spanish family. Methods: The study involved five family members, consisting of three siblings and their parents. All members underwent comprehensive eye examinations for best corrected visual acuity, axial length and refractive error, electroretinography (ERG), fundus photography, retinal fluorescein angiography (FA), and optical coherence tomography (OCT). Clinical exome sequencing of more than 6,000 clinically relevant genes (SureSelect Focused Exome, Agilent) was performed using the Illumina HiSeq 3000 system. Candidate variants were validated and segregated by Sanger sequencing. Results: The affected siblings had bilateral shortening of the posterior ocular segment and normal anterior segment dimensions. The fundoscopy, ERG, and FA results were compatible with RP. Macular OCT analysis revealed schisis of the outer retinal layer. Our data analysis pipeline identified a homozygous frameshift mutation in exon 5 of the membrane frizzled-related protein (MFRP) gene (c.498delC; p.Asn167Thrfs*25). Conclusion: Our study confirmed the association of PM with RP as an autosomal recessive syndrome. Although this has previously been described, it seems that there are some constant (i.e., PM and RP) and some variable features (i.e., optic nerve drusen and foveoschisis). The MFRP mutation has also been detected in other studies associating PM with RP. Analysis of a larger series of cases at the clinical and genetic levels would certainly help us to better understand the phenotype-genotype correlations of this syndrome.

La COVID-19 (enfermedad por coronavirus 2019) nos plantea nuevos retos en nuestra rutina diaria. La última cifra publicada de sanitarios contagiados –se dejó de publicar por última vez el 18 de mayo– fue de 51,090 en total y 152 casos nuevos ese mismo día1. Por ello, debemos aprender a protegernos para continuar con nuestra rutina diaria quirúrgica lo más cercana a la normalidad preexistente.

Background: We report a Spanish family, comprising an affected mother and daughter, respectively diagnosed with retinitis pigmentosa and Stargardt-like macular dystrophy, in whom we identified a PROM1 mutation. Methods: A custom gene panel consisting of 119 inherited retinal dystrophies (IRD)-genes was applied in the two affected individuals of this family and sequenced using the Illumina´s NextSeq500 platform. Results: The analysis of the resulting data allowed us to identify the pathogenic PROM1 mutation c.1117C>T (p.Arg373Cys) as the primary cause of the disease in both patients. No additional variants contributing to the extent of retinal dysfunction were detected. Conclusion: The variable expressivity of the detected PROM1 mutation is the most likely responsible for the intrafamilial phenotypic variability observed in this family. Screening of this mutation should be considered in patients with compatible clinical manifestations, especially when accompanied by an autosomal dominant family history.

Background Partial lamellar sclerouvectomy was designed more than 30 years ago by Jerry and Carol Shields, in order to remove melanomas that involved the ciliary body and/or the choroid, while leaving intact the outer portion of the sclera and the overlying sensory retina [ 1 ]. Methods We present two cases of iris-ciliary body melanoma with different size. The performed surgery was a partial lamellar sclerouvectomy plus iridectomy, complemented by intraoperative juxtalimbar ruthenium-106 brachytherapy. Results Both cases achieved anatomical success without developing chronic ocular hypotony in the postoperative period, an infrequent but possible complication [ 2 ]. Even one of them reached a best-corrected visual acuity of 0.7 after silicone oil removal and intravitreal implant of dexamethasone because of secondary macular edema. The other remains stable with counting fingers vision. In this case, the poor functional outcome might be influenced by larger size and longer evolution of the tumor, as well as the uncontrolled arterial hypertension and older age of the patient. Discussion Intraoperative ophthalmic brachytherapy may have a beneficial effect not only over neoplastic activity [ 2 ], but also over early choroidal detachments. Its pro-fibrotic/hemostatic stimulus should be further examined by comparative studies with larger cohorts, either prospectively or retrospectively. Other protective factors could be the utilization of equine pericardial grafts for covering scleral defects as well as leaving high-density silicone oil. Another key aspect is to maintain low blood pressure levels during these procedures in order to avoid intraocular hemorrhages [ 3 ], especially when the patient exceeds the sixth decade, so the anaesthesiologist will also play a decisive role in the operating room. We prefer to anticipate the likely development of lens opacification after this operation [ 4 ], performing cataract surgery at the beginning and using a Cionni capsular tension ring due to a probable zonular instability. Pars plana vitrectomy would also remove peripheral vitreoretinal tractions and seal the retina preventing a detachment. Conclusion As can be observed during the surgical video, a wide range of complications could occur during a partial lamellar sclerouvectomy. Tackle them ahead of time is crucial to achieve anatomical and functional success.

Purpose Artificial tears only provide transient relief for dry eye. To the best of our knowledge, this is the first study to objectively compare treatment with artificial tears with Keratograph 5M, which allows accurate and objective investigation of dry eye and artificial tear treatment. We aimed to evaluate whether a preservative-free combination of 0.4% hyaluronic acid and 0.2% galactoxyloglucan can improve dry eye using the new topographer, Keratograph 5M. Patients and Methods This prospective longitudinal, single-arm interventional cohort study was performed at a tertiary referral center and involved 20 patients with dry eye (40 eyes). Preservative-free artificial tears were administered every 3 h. The participants underwent clinical and instrumental evaluations at baseline, 15, 30, 60, 90 and 120 min after instillation and 1 week and 1 month after treatment. Baseline values were considered as the controls. All patients were assessed with Keratograph 5M for non-invasive Keratograph first break-up time and non-invasive Keratograph average break-up time, conjunctival hyperemia, and tear meniscus height. Ocular surface staining with fluorescein was evaluated using the slit-lamp and fluorescein break-up time examinations, and the Ocular Surface Disease Index score was recorded for each patient. Results The signs and symptoms improved after 1 month of preservative-free 0.4% hyaluronic acid and 0.2% galactoxyloglucan treatment. There was a significant increase in the non-invasive Keratograph first break-up time and non-invasive Keratograph average break-up time at 15, 30, 60, and 90 min, and 1 week and 1 month (P < 0.05) and a decrease in hyperemia, corneal staining, and Ocular Surface Disease Index scores after 1 week and 1 month (P < 0.05). No treatment-related adverse event was observed. Conclusion A combination of 0.4% hyaluronic acid and 0.2% galactoxyloglucan artificial tears seems effective for treating dry eye. Keratograph 5M can objectively detect these changes during the follow-up period.

To describe the clinical presentations and image findings of a patient with foveal hypoplasia.Observational case report of one patient. The clinical presentation of the patient was documented by fluorescein angiography, optical coherence tomography, and optical coherence tomography angiography.A 55-year-old healthy white female with bilateral foveal hypoplasia without nystagmus was presented. There were no signs suggestive of ocular albinism. Absence of foveal depression was noted on both clinical examination and optical coherence tomography. Lack of foveal avascular zone was confirmed on fluorescein angiography and optical coherence tomography angiography.To the best of our knowledge this is the first report of findings in foveal hypoplasia examined by angio-optical coherence tomography. Optical coherence tomography angiography is an easy, rapid, and noninvasive tool that allows imaging of the retinal microvasculature without intravenous dye injection.

Purpose: The aim is to describe the main characteristics of an anterior/posterior segment surgery and how to resolve intraoperative complications. Setting/Venue: The anterior and posterior segment surgical video was created at the Department of Ophthalmology, Virgin Macarena University Hospital, Seville, Spain. Methods: We present the case of a male with Stevens-Johnson syndrome and severe limbal deficiency who needed a Boston type 1 keratoprosthesis, reaching a visual acuity of 0.4 (0.05 before surgery). In the course of follow-up, he developed corneal melting with perforation, immune vitritis, and a large epimacular membrane. We decided to perform a 23-gauge vitrectomy associated with keratoprosthesis exchange. As a consequence of inappropriate anesthesia, the patient woke up during the surgery, provoking a retinal tear besides a choroidal detachment. These damages needed endolaser photocoagulation as well as silicone oil tamponade, forcing us to postpone the exchange. An intravitreal dexamethasone implant was also injected. Two months later, the silicone oil was removed, and the Boston keratoprosthesis was replaced by a new type 1 model with a titanium back plate, which likely improves biocompatibility and retention and may reduce complications such as retroprosthetic membranes and stromal corneal melts. Results: Good anatomical results were achieved, and visual acuity slightly improved to 0.2. Conclusions: Combined anterior and posterior segment surgery represents a great challenge that can improve not only visual acuity but also quality of life in patients with severe diseases such as Stevens-Johnson syndrome.

Purpose To present the different evolution of 2 cases of endophthalmitis caused by Fusarium solani, an aggressive filamentous fungus, depending on the medical and surgical treatment performed. Methods We present 2 cases of endophthalmitis caused by Fusarium solani. Topical, intrastromal, intravitreal, and systemic antifungal treatment (natamycin, voriconazole, amphotericin B) failed in both cases. Corneal perforation took place in one of them, being unsuccessfully treated with cyanoacrylate and several amniotic membrane transplants. It became necessary to perform a hot penetrating keratoplasty (PK) in both patients. The lenses were removed, and the microbiological analysis showed their colonization by Fusarium solani. In one of the cases, a second PK and a more aggressive pars plana vitrectomy (PPV) were performed after corneal recurrence detected by confocal microscopy, as well as the following therapeutic intra- and postoperative maneuvers: anterior chamber washing with povidone-iodine 5% for 1 min; iridectomy of the infiltrated regions; aspiration of the fungal colonies with vitrector; several air/fluid/amphotericin/voriconazole exchanges during PPV; endodiathermy and endophotocoagulation of the chorioretinitis foci; and intrascleral angle injections of voriconazole and amphotericin. Results These were the only cases of endophthalmitis caused by Fusarium attended to at our hospital during the last 10 years. In the case in which PPV was performed without those maneuvers, endophthalmitis rapidly recurred in a more aggressive way, so finally it became necessary to eviscerate the globe. On the other hand, in the patient who underwent PPV with the specific surgical maneuvers and postoperative procedures described above, we could preserve the eye and even a vision of hand motion without an intraocular lens. Conclusions The main objectives of these surgical procedures are to control the fungal infection and to preserve the ocular globe. It is essential to eliminate all ocular structures (iris, lens, vitreous, etc.) affected by this strain of fungus in order to reduce the risk of recurrence. When indicated, early surgery with the appropriate maneuvers detailed above may make an evisceration unnecessary and even recover some visual acuity.

Purpose: The aim is to describe the main characteristics of different approaches in vitreomacular traction surgery. Setting/Venue: The video (see www.karger.com/doi/10.1159/ 000442579) about vitreomacular traction surgery was created at the Department of Ophthalmology, Virgin Macarena University Hospital, Seville, Spain. Methods: We present the surgical release of vitreomacular tractions in three different pathologies: (1) idiopathic epimacular membrane; (2) proliferative diabetic retinopathy with long-term hemovitreous, and (3) Coats' disease. Results: Although functional success is less common than anatomical success, we will never be able to improve vision without restoring retinal anatomy. Conclusions: Vitreomacular tractions are perfectly well known by ophthalmologists. However, the method used to release them must be the least aggressive possible in order to avoid retinal tears or macular holes with subsequent visual loss.

ResumenObjetivoEn tiempos de merma de recursos, pretendemos con este estudio «auditar» el esfuerzo económico y humano realizado en nuestro hospital desde 2003 con la terapia fotodinámica (TFD) en la degeneración macular asociada a la edad.MétodosEstudio descriptivo de coste-beneficio que analiza 301 ojos de 252 pacientes con degeneración macular asociada a la edad neovascular tratada mediante TFD entre septiembre de 2003 y diciembre de 2006. Se analiza el cambio en la mejor agudeza visual corregida (MAVC), la variación del tamaño lesional en la angiografía fluoresceínica y el coste económico por ojo tratado en comparación con diferentes tratamientos antiangiogénicos intravítreos.ResultadosGlobalmente a lo largo del período de seguimiento, a pesar del tratamiento con TFD, las lesiones han sufrido un aumento de tamaño de 0.315±1.144mm, mientras que la MAVC de estos pacientes ha experimentado un empeoramiento de −0.022±0.078. El crecimiento lesional medio ha sido mayor en: varones, edad≤75 años, patrón angiográfico clásico y tamaño lesional inicial≤3mm. Se ha encontrado un mayor empeoramiento medio de la MAVC en: localización yuxtafoveal, tamaño lesional inicial≤3mm; MAVC inicial>0.1. El coste económico medio ha sido superior en: patrón angiográfico clásico; localización subfoveal; tamaño lesional inicial≤3mm.ConclusionesSi sumamos la menor probabilidad global de empeoramiento de la MAVC en comparación con los estudios existentes y un coste anual razonable, podríamos considerar que la TFD se ha aplicado de forma rentable en nuestro hospital, aunque sin olvidar que la verteporfina no mejora la pérdida de visión como sí hacen los antiangiogénicos, solo logra frenarla.AbstractObjectiveHaving the resources been diminished nowadays, our main aim through this study is to audit both economic and human efforts made at our hospital in photodynamic therapy (PDT) applied to exudative age-related macular degeneration since 2003.MethodsCost-benefit descriptive study which analyzes 301 eyes from 252 patients suffering from neovascular age-related macular degeneration treated with PDT between September 2003 and December 2006. It is analysed the change of the best-corrected visual acuity (BCVA), the variation of the lesion size in the fluorescein angiography and the economic cost per eye compared to different intravitreal antiangiogenic treatments.ResultsOverall, despite the PDT, lesions increased in size (0.315±1.144mm) during the follow-up period, in which patients BCVA did also experienced a deterioration (−0.022±0.078). Mean lesion growth has been higher in: men; age ≤75 years; classic angiographic pattern; initial lesion size≤3mm. Mean BCVA deterioration has been worse in: juxtafoveal localization; initial lesion size≤3mm; initial BCVA>0.1. Mean expense per eye has been higher in: classic angiographic pattern; subfoveal localization; initial lesion size≤3mm.ConclusionsPDT has been applied profitably at our hospital if we put together the global lower chance of BCVA deterioration compared to other existing studies and a reasonable annual cost, without forgetting that verteporfin can just stop loss of vision and not improving it as antiangiogenics do.