Atypical fundoscopic manifestation with good visual prognosis in familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

PURPOSE: Pathogenic variants in the CLDN19 gene are responsible for Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis (FHHNC) with ocular pathology (MIM *248190). Our objective was to delineate the ophthalmological and genetic manifestations of a patient with FHHNC and a pathogenic variant in CLDN19. CASE REPORT: A 25-year-old woman presented with renal involvement and a best-corrected visual acuity of 20/25 in the right eye and finger-counting ability in the left eye. The patient exhibited high myopia, convergent strabismus, and chorioretinal atrophic plaques in the perifoveal and peripapillary areas. We conducted a comprehensive ophthalmological examination, including refraction, fundoscopy, color and autofluorescence retinography, optical coherence tomography, and electrophysiology tests. Additionally, next-generation sequencing was performed using Illumina NextSeq500. We identified a homozygous missense variant, c.59G>A p.Gly20Asp, in the CLDN19 gene as the cause of renal and ocular manifestations. CONCLUSION: FHHNC is associated with various ocular alterations. The unique retinal disorders described in this article suggest a more favorable visual prognosis compared to those previously reported in the literature. Determining the phenotypic diversity of this disease may aid in the diagnosis and management of future cases.

Ocular surface analysis in patients diagnosed with X-linked ichthyosis. / Análisis de superficie ocular en pacientes diagnosticados de ictiosis X.

Seven patients (14 eyes) diagnosed with X-linked ichthyosis were studied using the Schirmer test, biomicroscopy, tonometry, endothelial count, optical coherence tomography, Pentacam®, ocular surface analyser, and confocal microscopy. The mean age was 33.83±20.17 years (range: 7-64 years). The most frequent findings in biomicroscopy were Meibomian glands dysfunction (83.3%) and stromal corneal opacities (33%). The tear break-up time was found shortened in 25% of the eyes. Confocal microscopy (both eyes) revealed activated keratocytes with hyper-reflective particles inside them in the anterior stroma and outside them in the posterior stroma. It is believed that the inclusion of the use of confocal microscopy will help in a better understanding of the corneal pathology associated with ichthyosis X, as well as new characteristics of these patients.

Audit of cataract surgery in Cadiz: visual outcomes and complications. / Auditoría de la cirugía de catarata senil en Cádiz: resultados visuales y complicaciones.

OBJECTIVE: To publish the outcomes and complications of age-related cataract surgery in Cadiz (Spain). Due to the lack of national audits, a comparison was made between the results obtained here and those of the most recent European audit, EUREQUO (2013), and the British audit RCOphth NOD (2015). METHODS: A prospective, longitudinal, before-after study of 312 patients undergoing cataract surgery in the University Hospitals of Puerta del Mar and Puerto Real (Cadiz), in 2013-14. Outcome measurements included sociodemographic characteristics, visual acuity (VA), symptoms secondary to cataract, ocular comorbidity, waiting time, expertise of surgeon (consultant vs. trainee), rate and type of surgical complications. RESULTS: The median age at surgery was 73.92±7.31. Almost all (98.3%) of patients at consultation had a VA ≥0.60logMAR, with a mean pre-surgical VA of 1.01logMAR (0.92-1.10). There was a 6.7% complication rate, with 3.8% posterior capsule ruptures and 2.8% corneal decompensations. No cases of endophthalmitis occurred. The mean post-operative VA was 0.28logMAR (0.22-0.33). More than three-quarters (78.8%) of cases achieved a post-operative VA ≤0.3logMAR, and 27.6% of cases achieved a VA ≤0.0logMAR. CONCLUSIONS: Our success rate was inferior to the EUREQUO and RCOphth NOD studies, with the percentage of patients acquiring a postoperative VA ≤0.3logMAR being 98% and 89%, respectively. However, the populations were not comparable. It is hoped that this study will encourage other public hospitals in Spain to undertake audits and share their results, in order to provide a tool for constructive criticism and quality improvement initiatives.

Retinoblastoma: The importance of early diagnosis. / Retinoblastoma: la importancia de su diagnóstico precoz.

INTRODUCTION: Retinoblastoma is the most frequent malignant intraocular tumour in childhood, and both its cure and the sequelae arising from it, mainly depend on an early diagnosis. There is currently no consensus on its diagnostic and therapeutic management. PATIENTS AND METHODS: A descriptive, retrospective, and non-randomised study was conducted on a series of cases (39 patients -58 eyes), treated during the period 2006-2013, in the Regional Reference Centre for Tumours of the National Health Service Quality Agency. RESULTS: The most frequent presentation sign is leukocoria (71.8%), followed by strabismus (17.9%). All cases of bilateral tumour had a germline mutation of the RB1 gene, and 20% had a family history. Stage E was observed in 55% of the patients, and 90% required chemotherapy treatment. The eye was maintained in 57% of those who had mild stages, compared to 43% who maintained it in advanced stages. CONCLUSIONS: This analysis included 58 eyes. There are no previous studies in our community and there are few series so numerous throughout the country. Based on non-standardised treatment, the most appropriate is chosen according to the characteristics of the tumour. The multidisciplinary management, formed by ophthalmology, paediatric oncology, radiotherapy, and radiophysical oncology, is fundamental for the selection of the most appropriate treatment. Chemo-reduction, along with consolidation treatments, offers encouraging results in the control of these tumours, especially in those of less severity. Enucleation continues to be the method of choice in the most advanced staging with vitreous involvement, with the importance of early diagnosis being highlighted.

Effectiveness and safety of nutritional supplements in the treatment of hereditary retinal dystrophies: a systematic review.

The hereditary retinal dystrophies (HRDs) are a group of genetically determined disorders that result in loss of the visual function. There is a lack of standard pharmacological treatments or widely accepted nutritional recommendations. The objective of this review is to summarise the scientific evidence on the effectiveness and safety of nutritional supplements for the treatment of HRDs. We conducted a scientific literature search on Medline and PreMedline, EMBASE, SCI-EXPANDED, SSCI, and The Cochrane Library up to August 2014. Experimental, quasi-experimental and controlled observational studies were selected. Eight studies were ultimately included, seven on retinitis pigmentosa (RP) and one on Best disease. Vitamin A, vitamin E, docosahexaenoic acid (DHA), lutein and ß-carotene were assessed. A 15 000 IU daily dose of vitamin A was reported to have shown a small protective effect on the progression of RP, as was the use of the carotenoids lutein and ß-carotene. Different DHA doses has no effect on RP or Best disease. No supplement showed severe adverse effects in the selected studies although strong evidence of toxicity exists for high doses of vitamin A and ß-carotene in certain populations. The selected studies concluded that there may be a small beneficial effect of vitamin A, lutein and ß-carotene on the progression of RP. The limited evidence available indicates some well-designed additional studies on combined supplements strategies may achieve more robust conclusions. Moreover, the scarcity of evidence available on the treatment of HRD other than RP with nutritional supplements supports the need for further research efforts.

Variations in the technique for autologous limbal transplantation. / Variaciones en la técnica del trasplante limbar autólogo.

OBJECTIVE: To present the results on the use of a single block limbal autograft, combined with amniotic membrane transplantation and sectoral sequential postoperative epitheliectomy of the conjunctiva in 2 patients with unilateral total limbal stem cell deficiency. CONCLUSIONS: A single block limbal autograft combined with amniotic membrane transplantation may be sufficient to restore a stable corneal surface, but sometimes sequential sectoral conjunctival epitheliectomy may be required to treat anomalous epithelial remnants.

Interaction between surgical procedure for repairing retinal detachment and clinical risk factors for proliferative vitreoretinopathy.

PURPOSE: To asses risk factors of proliferative vitreoretinopathy (PVR) and a model for predicting it. METHODS: Observational, case-control. 335 patients with non-complicated retinal detachment (RD) were included: 134 developed PVR (Cases); 201 patients did not (Controls). Risk factors for PVR were identified by multivariate analysis. Influence of variables was assayed according to the surgical approach. By logistic regression analysis a model to predict the risk of developing PVR and odds ratio (OR) values for each clinical factor were estimated. RESULTS: Risk was higher in patients > 70 years and with intraocular pressure lower than 14 (OR: 3.84; CI 95%: 2.04-7.30) and in retinal breaks larger than "1 clock hour" (OR: 2.54; CI: 1.28-5.05), extended retinal detachments (OR: 4.01; CI: 1.98-8.10) and reinterventions (OR: 1.55; CI: 1.14-9.22). Scleral surgery also was a risk factor (OR: 3.89; CI: 2.12-7.14) and aphakia/pseudophakia when scleral surgery is performed (OR: 3.33; CI: 1.54-7.22). A model to predict PVR was proposed with these results. CONCLUSIONS: Surgical approach modifies risk factors of PVR, and should be taken into account to improve the models for predicting it.

[Efficacy of direct paraffin embedding in cytological analysis of vitreous from proliferative vitreo-retinopathy (PVR)]. / Eficacia de la inclusión directa en parafina en el estudio citológico del vítreo en pacientes con vitreorretinopatía proliferante (VRP).

PURPOSE: To assess the efficacy of direct paraffin embedding in cytological analysis of vitreous samples in patients suffering from PVR, against the commonly used method for this purpose (cytospin). METHOD: Undiluted vitreous or vitreous fluids from 40 subsequent patients with PVR were collected and processed (samples collected from cassette at the end of aspiration line in final stage of vitrectomy process). 40 samples underwent cytospinning, 24 samples were paraffin embedded. Specimens were assessed by an expert ocular pathologist and tested samples were assigned to scoring and non scoring groups (where scoring means at least three cells per field in x60 magnification). RESULTS: All 24 paraffin embedding samples scored according to criteria while 36 of 40 cytospinned samples complied with scoring criteria. Differences were not statistically significant. Macrophages (87.5%) and pigmented cells (85%) were the most frequent findings. CONCLUSIONS: Direct paraffin embedding is useful for cytological studies in vitreous samples of PVR patients.

[Treatment of the massive suprachoroidal hemorrhages]. / El tratamiento de las hemorragias supracoroideas masivas.

PURPOSE: To analyze the anatomical and functional results obtained in post- surgical suprachoroidal hemorrhages treated from 1998 to 2000 and to review the information on the series of this complication that have been published during the last five years and which included at least 10 patients. METHODS: A retrospective analysis of the medical records of patients with suprachoroidal hemorrhages at the Instituto Universitario de Oftalmobiología Aplicada (IOBA) - University Hospital of Valladolid. Bibliographic search by Med-Line/Pub Med from 1995 to 2000 was performed. RESULTS: 8 patients who fulfill these criteria have been treated and 8 papers, also complying with the criteria, have been found. CONCLUSIONS: The functional and anatomic results of post-surgical suprachoroidal hemorrhages are still poor, even though the prognosis seems to have improved in the last 20 years. The standardized classification of massive suprachoroidal hemorrhages based on severity and the standardization of the follow-up would improve these results.

[Progressive diffuse subretinal fibrosis syndrome: a case report]. / Síndrome de fibrosis subretiniana progresiva: a propósito de un caso.

CASE REPORT: The case of a 63 year old woman presenting fibrous subretinal lesions in the posterior pole on a routine ocular fundus check up is reported. The angiographic study showed a choroidal origin window defect next to hypofluorescence areas. The patient did not complain of vision loss or scotomas at any time. DISCUSSION: This clinical picture could be classified as a progressive subretinal fibrosis syndrome with atypical features. However, a differential diagnosis with other choroidal inflammatory conditions should be carried out even though many authors may consider them as different developmental phases of the same entity.

[Acute macular neuroretinopathy: a case report]. / Neuro-retinopatía macular aguda: a propósito de un caso.

CASE REPORT: A 68 year old woman developed a sudden decrease in her visual acuity in both eyes with several central scotomas. Funduscopy demonstrated a motted alteration of the retinal pigment epithelium in both maculae. The fluorescein angiography showed a choroidal ischemia at the macular level in both eyes. DISCUSSION: The patient was diagnosed of acute macular neuroretinopathy. This entity is included among the so-called <>. However, it is important to determine which of these diseases each patient suffers in order to determine if treatment is necessary, the visual prognosis and the possibility of recurrences.

[Comparison of different techniques for cytologic analysis of vitreous specimens]. / Comparación de diferentes técnicas de análisis citológico en muestras vítreas.

PURPOSE: To assess the efficacy of four methods to study the cytology of vitreous samples, and to evaluate the most efficient for routine analysis and immunocytochemical staining. METHODS: Diluted and undiluted vitreous samples of 87 consecutive patients suffering vitreoretinal surgery for different diseases were analysed. The specimens were centrifugated and then processed through four different procedures: agar sandwich (29 cases), direct paraffin embedding (33 cases), cytospin preparations (82 cases) and cytoblock (8 cases). RESULTS: Evaluable material was obtained in: agar sandwich 18 out of 29 cases (62%), direct paraffin embedding 32 out of 33 cases (96.9%), cytospin 72 out of 82 cases (87.8%) and cytoblock 1 out of 8 cases (12.5%). CONCLUSIONS: Direct paraffin embedding and cytospin are the most efficient procedures for routine purposes. Agar sandwich technique seems to be useful for studying small pieces of tissue. Direct paraffin embedding and agar sandwich technique seems to be valuable for immunocytochemistry. After 8 cases processed with cytoblock, our experience did not show valuable results for processing vitreous samples.

[Retinal shortening: the most severe form of proliferative vitreoretinopathy (PVR)]. / Acortamiento retiniano: la forma más grave de la vitreorretinopatía proliferante (VRP).

PURPOSE: To identify the clinical characteristics of patients developing retinal shortening due to intraretinal PVR. METHODS: Observational and retrospective cohort study on 110 PVR patients operated on between 2000 and 2001. During surgery, after removing epiretinal membranes and ruling out the presence of subretinal membranes, a perfluorocarbon liquid was injected. Those cases in which retinal flattening was not accomplished, were considered intraretinal PVR (group 1). Those in which retinal flattening allowed endolaser application, were taken as the control group (group 2). Clinical features of both groups were compared by chi-square test. RESULTS: 60 cases (54.5%, CI 95%: 40.5-68.5) showed retinal shortening (group 1). In 24 cases (21.8%, CI 95%: 12.9-30.7) complete retinal flattening was accomplished (group 2). In 26 cases (23.6%), evaluation was inconclusive. In 9 out of the 60 cases of group 1 (15%) a retinectomy was necessary to reattach the retina. Differences between both groups were not statistically significant for any of the clinical variables. However, the number of retinal detachments of more than 60 days of evolution was significantly higher in retinectomized eyes (20.7%) than in group 1 (3.7%) (p=0.04). CONCLUSIONS: Retinal shortening is a relatively frequent phenomenon in PVR. Further studies are necessary to characterize this clinical presentation of PVR and its pathogenesis.

[Usefulness of conjunctival biopsy as diagnostic technique]. / Utilidad de la biopsia conjuntival como técnica diagnóstica.

PURPOSE: The conjuctival biopsy is described as a useful technique in the diagnosis of some chronic conjunctivitis, with low specific signs and with poor response to the conventional treatment. Furthermore it is quite important in the diagnosis of conjunctival diseases with potential dangerous treatment. PATIENTS AND METHODS: Three clinical cases are described. Case 1: A 37 years old woman with a chronic lesion of conjuctiva and the suspicion of blepharoconjunctivitis. There was no improvement with treatment. Case 2: A 58 years old woman with a chronic conjunctivitis and follicular reaction. Case 3: A 66 years old man who suffers from a cicatricial conjunctivis in both eyes with corneal lesion in one eye. A conjunctival biopsy was perfomed and studied under light microscopy and immunohistochemistry. There is a description of the technique. RESULTS: The results of every clinical case are described. In the first case the biopsy established the diagnosis of conjunctival lymphoma. In the second, the biopsy showed the appearance of granulomas and a diagnosis of conjunctival sarcoidosis was performed. In the third case a diagnosis of ocular cicatricial pemphigoid was established. CONCLUSION: Conjunctival biopsy is a useful and effective technique in the diagnosis of chronic conjunctivitis.

[Clinical risk factors for postoperative proliferative vitreoretinopathy (PVR). A prospective study]. / Factores clínicos de riesgo para el desarrollo de la vitreorretinopatía proliferante (VRP) postquirúrgica. Estudio prospectivo.

PURPOSE: To identify clinical risk factors for development of postoperative PVR, to determine the incidence of this complication and its time of onset by a prospective multicentric study. METHODS: A multicentric and prospective study of 223 patients with rhegmatogenous retinal detachment (RD) was conducted. Logistic regression analysis was used to identify risk factors for PVR among 83 variables related to preoperative, intraoperative and postoperative characteristics. RESULTS: 22 out of 223 RD developed PVR (incidence 9.9%, confidence interval 95%: 5.9-13.9). After logistic regression analysis, four variables showed an odds ratio higher than 1.0 (RD affecting 4 quadrants, cryopexy, aphakia/pseudophakia and those RD in which an encircling band was implanted). None of these factors showed a <

> value lower than 0.05. Most of postoperative PVR (77.2%) appeared in the first month after surgery. CONCLUSIONS: This study establishes the incidence of PVR, and its time of onset, but it was not effective to identify clinical risk factors with a high level of confidence.

[Combined choroidal biopsy and cytology for diagnosis of intraocular tumour]. / Técnica combinada de vitrectomía con biopsia y citología en el diagnóstico de tumor intraocular.

CLINICAL CASE: No intraocular biopsy technique is free of risk and all have the possibility of giving false negatives due to the difficulty in obtaining a sufficient sample. A modified chorioretinal biopsy was performed on a patient with suspected choroidal melanoma after negative biopsy with 25G vitrectomy. In addition to removing a solid fragment of tumor material using bimanual surgery, material from the lesion was obtained with the vitreotome to perform cytology, which confirmed the diagnosis of melanoma. DISCUSSION: Cytology obtained through the vitreotome in association with removing a solid sample of the choroidal lesion may improve the efficiency of intraocular biopsy.

[Training and clinical activity of Spanish retinologists: a preliminary approach. Retina 2 project. Descriptive analysis]. / Formación y actividad clínica de los retinólogos en España: un primer acercamiento. Proyecto retina 2. Análisis descriptivo.

PURPOSE: To create a database of Spanish ophthalmologists mainly dedicated to retinal pathology care, describing their training period characteristics and their daily activity (clinical and surgical). METHODS: A postal questionnaire was sent to 504 possible retinologists identified through the information supplied by the Spanish Ophthalmological Society and the Spanish Vitreous-Retina Society, with a minimum of 3 retinologists per Autonomous Region. RESULTS: 267 (52.9% of the sample population) responses were collected and processed. Most of the respondents had started their residency after 1980 (82.4%). Ninety-four percent had received specific training in retinal pathology, mostly during the residency period (82.1%) and from more experienced colleagues (62.9%). Official fellowships were held in a minority of cases (around 12%). Twelve percent of retinologists performed retinal surgery only, 14.6% performed anterior segment surgery, and 60.7% performed both types of surgery. CONCLUSIONS: Despite not having taken into consideration non-response bias, this study provides the first reported data on the professional profile of Spanish retinologists.

Surgical outcomes for primary rhegmatogenous retinal detachments in phakic and pseudophakic patients: the Retina 1 Project--report 2.

AIMS: To compare anatomical and functional outcomes for 546 phakic and pseudophakic primary rhegmatogenous retinal detachments (RDs) treated by pars plana vitrectomy or scleral buckling. METHODS: Prospective, non-randomised, interventional study in 15 centres in Spain and Portugal, with data from RDs consecutively treated from January 2005 to May 2007. Cases with preoperative proliferative vitreoretinopathy grade C-1 or higher and perforating trauma were excluded. Minimum follow-up was 3 months. Twenty-seven pre-, intra- and post-surgical variables for each patient were analysed. Multivariate analysis was carried out by logistic regression analysis with stepwise selection of variables. RESULTS: Data from 546 patients were analysed. Global anatomical success was 94.7%. Logistic regression analysis showed that only the development of postoperative proliferative vitreoretinopathy was associated with a poor anatomical outcome. The poorest functional results were associated with macular involvement, extension of RD, previous RD surgery, time of evolution of RD, and age of patient. Hierarchical log-linear analysis showed no effect of the lens status (phakic versus pseudophakic) on the functional results. However, pars plana vitrectomy was most often performed in pseudophakic eyes and resulted in a worse final visual acuity (p<0.001). CONCLUSIONS: No differences in anatomical success between phakic and pseudophakic eyes were found in this series. Pars plana vitrectomy was most often performed in pseudophakic eyes and had a greater probability of a worse final visual acuity than scleral buckling.