A New Case Report of Traboulsi Syndrome: A Literature Review and Insights Into Genotype-Phenotype Correlations.

Traboulsi syndrome is a rare genetic disorder characterized by facial dysmorphism, lens subluxation, anterior segment anomalies, and spontaneous filtering blebs. The syndrome is due to mutations in the ASPH gene, which plays a crucial role in the development and maintenance of the lens. This case report describes the clinical and genetic findings in a Mexican male with Traboulsi syndrome, highlighting the identification of a novel ASPH variant. A 21-year-old male presented with trauma to the right eye while playing soccer. He had a history of lens subluxation and dysmorphic facial features. Ophthalmic examination revealed right eye lens subluxation into the anterior chamber (with signs of a previous episode of acute angle closure) and left eye posterior and inferior lens subluxation with sectorial iris atrophy. Genetic analysis identified a pathogenic ASPH variant (NM_004318.3:c.1892G>A, p.Trp631*) and a novel likely pathogenic variant (deletion of exons 20-21), confirming Traboulsi syndrome. This is the first instance of Traboulsi syndrome in the Mexican population. The absence of spontaneous filtering blebs in this patient supports previous reports of the wide phenotypic variability that could be related to the type of mutation. This novel ASPH variant expands the known genetic heterogeneity of Traboulsi syndrome.

Assessment by the Scheimpflug imaging system of corneal clarity and anterior segment properties in rosacea patients.

OBJECTIVE: To evaluate the effects of rosacea on ocular surface changes such as alterations in dry eye parameters, corneal densitometry, and aberrations, in comparison with healthy controls. METHODS: A total of 88 eyes of 44 patients diagnosed with rosacea and 88 eyes of 44 healthy controls were enrolled in this cross-sectional study. All participants underwent a comprehensive dermatologic and ophthalmic examination and Tear Break-Up Time (TBUT) and Schirmer-1 tests were performed. The rosacea subtype and Demodex count and OSDI scores of all participants were recorded. Corneal topographic, densitometric, and aberrometric measurements were obtained using the Scheimpflug imaging system. RESULTS: The mean age of the 44 patients was 41.2 ±â€¯11.0 years of whom 31 (70.5%) were female. The mean TBUT and Schirmer-1 test values were significantly decreased and OSDI scores were significantly increased in the rosacea group compared to healthy controls (p < 0.01 for all). The most common subtype of rosacea was erythematotelangiectatic rosacea (70.4%). The severity grading of rosacea revealed that 18 (40.9%) patients had moderate erythema. The median (min-max) Demodex count was 14.0 (0-120) and the disease duration was 24.0 (5-360) months. The comparison of the corneal densitometry values revealed that the densitometry measurements in all concentric zones, especially in central and posterior zones were higher in rosacea patients. Corneal aberrometric values in the posterior surface were also lower in the rosacea group compared to healthy controls. The topographic anterior chamber values were significantly lower in the rosacea group. STUDY LIMITATIONS: Relatively small sample size, variable time interval to hospital admission, and lack of follow-up data are among the limitations of the study. Future studies with larger sample sizes may also enlighten the mechanisms of controversial anterior segment findings by evaluating rosacea patients who have uveitis and those who do not. CONCLUSION: Given the fact that ocular signs may precede cutaneous disease, rosacea is frequently underrecognized by ophthalmologists. Therefore, a comprehensive examination of the ocular surface and assessment of the anterior segment is essential. The main priority of the ophthalmologist is to treat meibomian gland dysfunction and Demodex infection to prevent undesired ocular outcomes.

Bilateral Peters' anomaly, aniridia and Wilms tumour (WAGR syndrome) in monozygotic twins.

AIM: This study reports the bilateral association of Peters' anomaly and congenital aniridia in monozygotic twins subsequently diagnosed with Wilms tumour (WAGR syndrome). METHODS: Two monozygotic female twins were referred at age 2 months with bilateral corneal opacity. A diagnosis of Peters' anomaly associated to aniridia was made in both eyes of both twins. Physical examination and ultrasonography were carried out at 12 months of age to explore the possibility of WAGR-related anomalies, specifically Wilms tumour. DNA were isolated and subjected to whole exome sequencing. RESULTS: Peters' anomaly associated to aniridia in both eyes as well as bilateral Wilms tumour in both children were diagnosed. Exome analyses showed a large heterozygous deletion encompassing 6 648 473 bp in chromosome 11p13, using Integrative Genomics Viewer and AnnotSV software. CONCLUSION: WAGR syndrome is a rare contiguous gene deletion syndrome with a greater risk of developing Wilms tumour associated with Peters' anomaly and congenital aniridia. However, co-occurrence of both anomalies was rarely reported in twins, and never in both eyes of monozygotic twins. Here, we report the bilateral association of Peters' anomaly and congenital aniridia in monozygotic twins with WAGR syndrome.

Quistes secundarios de iris / Secondary Iris Cysts

Los quistes epiteliales del iris o de cámara anterior son una rara y grave complicación tras la cirugía o traumatismos penetrantes del segmento anterior del ojo. Son secundarios a la invasión epitelial de la cámara anterior. Se ha descrito una incidencia de 0,09-0,12 por ciento, aunque estudios histopatológicos en ojos enucleados, tras cirugía de cataratas señalan una incidencia del 16 por ciento. Frecuentemente evolucionan hacia un aumento progresivo de tamaño y la producción de complicaciones visuales como glaucoma (de ángulo abierto por liberación de contenido mucoso del quiste, o cerrado), uveítis, descompensación corneal y membranas retrocorneales. Se presenta el caso de un paciente masculino de 61 años de edad, que acude a consulta tras una cirugía de dos meses de evolución, en la que se le realizó una cirugía combinada de catarata y glaucoma Al examen en lámpara de hendidura le son detectados varios quistes retroiridianos(AU)

Iris epithelial or anterior chamber cysts are a rare and serious complication following surgery or penetrating trauma to the anterior segment of the eye. They are secondary to epithelial invasion of the anterior chamber. An incidence of 0.09-0.12 percent has been described, although histopathological studies in enucleated eyes after cataract surgery indicate an incidence of 16 percent. They frequently evolve towards a progressive increase in size and the production of visual complications such as glaucoma (open angle due to the release of mucous content of the cyst, or closed), uveitis, corneal decompensation and retrocorneal membranes. We present the case of a 61-year-old male patient, who came to the clinic after a two-month surgery, in which he underwent a combined cataract and glaucoma surgery(AU)

Long-term experience and Visual Acuity outcomes in Peters Anomaly cases.

PURPOSE: To report the results in a series of Peters Anomaly cases, and propose management and treatment approaches according to the alterations associated with each case. MATERIAL AND METHODS: A retrospective analysis was performed on the records of 27 patients (32 eyes) clinically diagnosed with Peters Anomaly. Each patient was subjected to different treatment modalities according to the type of Peters Anomaly, anywhere from medical follow-up clinics to a Penetrating Keratoplasty procedure (PKP). RESULTS: Of the 27 patients (32 eyes), 74% were male and 26% female, with 18.5% (5) being bilateral and 81.5% (22) unilateral. The mean number of years of follow-up was 10.2 years (Range: 3.5 to 18 years). The results of long-term VA correlate directly with the type of Peters Anomaly. For the total number of patients, the VA results were LogMAR 1.71 ±â€¯1.04. The results by groups were: Type I with only medical monitoring LogMAR 0.3 ±â€¯0, Type I with only Optical Iridectomy (OI) LogMAR 0.97 ±â€¯0.78, Type I with PKP LogMAR 1.22 ±â€¯0.97, Type II without a compromised posterior pole with PKP LogMAR 2.41 ±â€¯0.80, and Type II with a compromised posterior pole with PKP LogMAR 2.56 ±â€¯0.48. CONCLUSIONS: The result of VA and long-term corneal failure is directly related to the type of Peters Anomaly. Patients with Type I who only required medical follow-ups had the most favourable prognosis. Patients who underwent Peripheral Iridectomy followed and patients in which PKP was performed had an inferior prognosis.

Ocular Phenotype of Peters-Plus Syndrome.

PURPOSE: Peters-plus syndrome is a rare, autosomal recessive congenital disorder of glycosylation caused by mutations in the gene B3GLCT. A detailed description of the ocular findings is currently lacking in the scientific literature. We report a case series of Peters-plus syndrome with deep ocular phenotyping using anterior segment optical coherence tomography and ultrasound biomicroscopy. Where available, we describe the histology of host corneal buttons. METHODS: A retrospective chart review of patients with Peters-plus syndrome was conducted under the care of the senior author between January 2000 and June 2019. Demographic and clinical data including ocular and systemic features, ophthalmic imaging, and molecular diagnostic reports were collected. RESULTS: Four cases of Peters-plus syndrome were identified. Three patients were male and 1 was female. Five of the 8 eyes had an avascular paracentral ring opacity with relative central clearing. The paracentral opacity is due to iridocorneal adhesion and the relative central clearing associated with posterior stromal thinning. One eye had persistent fetal vasculature and microphthalmia, which has not previously been reported. One eye from each of 2 patients had a significantly different phenotype with a large vascularized central corneal opacity. CONCLUSIONS: The most common ocular phenotype seen in Peters-plus syndrome is an avascular paracentral ring opacity with relative central clearing. A different phenotype with a large vascularized corneal opacity may also be observed.

Uso clínico de MS-39: topógrafo para el estudio del segmento anterior / Clinical use of MS-39: a topograph for the study of the anterior segment

El ojo humano es un instrumento óptico simple, pero extremadamente robusto. Los sistemas de imágenes para el diagnóstico y evaluación del segmento anterior del ojo constituyen una herramienta fundamental para el oftalmólogo. Hasta hace poco, el uso de estas técnicas proporcionaba fundamentalmente información cualitativa sobre ciertas enfermedades; sin embargo, el desarrollo de nuevas técnicas de cuantificación abre una nueva Era de evaluación y tratamiento basado en imagen. La tomografía de coherencia óptica de segmento anterior se ha convertido en una herramienta crucial en la Oftalmología. El MS-39 es un topógrafo que usa el dominio espectral y la topografía con disco de Plácido para obtener mediciones del segmento anterior del ojo. Brinda información sobre paquimetría, elevación, curvatura y poder dióptrico de ambas caras de la córnea. Además, permite realizar mapas epiteliales y biometría del cristalino. La alta repetibilidad de esta tecnología justifica su uso en la práctica clínica. De ahí la motivación para realizar una búsqueda de diversos artículos publicados, con el objetivo de describir las características y la utilidad del MS-39 para el estudio del segmento anterior del ojo. Se utilizó la plataforma Infomed, específicamente la Biblioteca Virtual de Salud, con todos sus buscadores(AU)

The human eye is a simple but extremely robust optical tool. Imaging systems for the diagnosis and evaluation of the anterior segment of the eye are a fundamental tool for ophthalmologists. Until recently, use of these techniques mainly provided qualitative information about certain diseases; however, the current development of quantification techniques has paved the way for a new era in image-based evaluation and treatment. Optical coherence tomography of the anterior segment has gained crucial importance in ophthalmology. MS-39 is a topograph that uses the spectral domain and Placido disc topography to obtain measurements of the anterior segment of the eye. This tool provides information about the pachymetry, elevation, curvature and dioptric power of both sides of the cornea. It also permits the development of epithelial maps and crystalline lens biometry. The great repeatability of this technology justifies its use in clinical practice. Hence the motivation to conduct a search for a variety of published papers, with the purpose of describing the characteristics and usefulness of the MS-39 for the study of the anterior segment of the eye. Use was made of the Infomed platform, particularly the Virtual Health Library with all its search engines(AU)

Characteristics of the Filtering Bleb and the Agreement between Glaucoma Specialist and Anterior Segment-Optical Coherence Tomography Assessment.

INTRODUCTION: This study aimed to evaluate the characteristics of the filtering bleb in failed late trabeculectomy and the agreement between glaucoma specialist assessment and anterior segment-optical coherence tomography (AS-OCT) system assessment in terms of the presence of subconjunctival fluid in the filtering bleb. METHODS: Patients with a diagnosis of glaucoma who were scheduled to undergo trabeculectomy in at least one eye and with uncontrolled intraocular pressure (IOP) were enrolled. All participants underwent a complete ophthalmological examination. The presence of fluid under the filtering bleb was first evaluated by a glaucoma specialist using biomicroscopy evaluation and then using the OCT 1000 AS-OCT Version 3.0.1.8 (Carl Zeiss Meditec, Dublin, CA, USA) system. A Kappa statistical test was used to evaluate the agreement between AS-OCT and the examiner. The correlation between conjunctiva and tenon thickness and clinical parameters was also assessed. RESULTS: Forty eyes of 40 patients were evaluated in this study. The ages ranged from 21 to 86 years, with a mean of 66.55 ± 12.33. The average IOP was 21.20 ± 4.44 mm Hg (range 14-38 mm Hg) in the entire group. The mean thickness of the conjunctiva and tenon was 302.03 ± 406.76 µm (range 251-1,616 µm). There was a significant negative correlation between the mean thickness of the conjunctiva and tenon and IOP (p = 0.045; confidence interval = -0.558, 0.024). Additionally, there was a significant negative correlation between the mean thickness of the conjunctiva and tenon, and the number of medications used at baseline (p = 0.043; confidence interval = -0.538, 0.051). There was significant negative correlation between the horizontal measurement of the bleb and the use of glaucoma medications (p = 0.017; confidence interval = -0.560, 0.004). A total of 26 patients were determined to have fluid by the examiner (glaucoma expert), and the presence of fluid in AS was confirmed in 19 patients by AS-OCT. Of the 14 patients who were determined to have an absence of fluid, this was confirmed by AS-OCT in 7 patients (Kappa = 0.231; agreement of 65.00%). CONCLUSION: There is fair agreement between glaucoma specialist assessment and AS-OCT assessment in terms of the presence of fluid in trabeculectomy. Our findings highlight the importance of AS-OCT in some patients before deciding upon a new intervention.

Amniotic membrane transplantation in ocular surface diseases / Transplante de membrana amniótica em doenças da superfície ocular

Abstract Objective: To evaluate the clinical effectiveness of amniotic membrane transplantation for ocular surface reconstruction. Methods: Prospective study including 23 eyes of 21 patients who underwent amniotic membrane transplantation at Hospital de Clínicas da Universidade Federal do Paraná (HC-UFPR) and at Cirurgia e Diagnose em Oftalmologia do Paraná (CDOP) clinic, located in Curitiba, PR, Brazil, from may 2015 to july 2019. The amniotic membrane was collected from elective and term cesarean delivery, and conserved in preservation medium and glycerol 1:1, stored at -80° Celsius. The membrane was fixed on the ocular surface with 10-0 nylon, 8-0 vicryl, biological glue or a combination of these materials. Results: The ocular surface reconstruction was successful in 22 eyes (95.6%). Failure was observed only in 1 case (bullous keratopathy) in which the condition was maintained postoperatively. Patients' age ranged from 11-82 years, with a mean age of 37.4 years. There was a higher incidence in males (66.6%). A difference was perceived in the distribution of the affected eye (which was greater in the right eye - 65.2%). As for the previous ophthalmic surgery history, 12 of the 23 eyes had a positive history (52.2%). It was observed that all patients who had preoperative visual acuity assessed showed improvement or maintenance of corrected visual acuity. In the postoperative period, complications associated with the underlying disease were observed, although not particularly related to the amniotic membrane transplantation. There were not any cases of postoperative infection. Conclusions: There was an improvement in the general state of the ocular surface in almost all of the cases in which the transplant was performed. Therefore, the amniotic membrane can be considered a good alternative for reconstructing the ocular surface, as a single or supporting treatment.

Resumo Objetivo: Avaliar a eficácia clínica do transplante de membrana amniótica na reconstrução da superfície ocular. Métodos: Estudo prospectivo incluiu 23 olhos de 21 pacientes que realizaram transplante de membrana amniótica no Hospital de Clínicas da Universidade Federal do Paraná (UFPR) e na clínica de Cirurgia e Diagnose em Oftalmologia do Paraná (CDOP), localizados em Curitiba, PR, Brasil, no período de maio de 2015 a julho de 2019. A membrana amniótica foi captada a partir de parto cesárea eletivo e a termo, conservada em meio de preservação e glicerol 1:1 e armazenada a -80° Celsius. A membrana foi fixada na superfície ocular com fio nylon 10-0 ou vicryl 8-0 e/ou cola biológica. Resultados: A idade dos pacientes variou de 11-82 anos, com média de 37,4 anos. Houve maior incidência no sexo masculino (66,6%). Ocorreu diferença na distribuição do olho acometido (maior no olho direito - 65,2%). Quanto à história de cirurgia oftalmológica prévia, 12 dos 23 olhos tinham história positiva (52,2%). Observamos que nos pacientes em que foi possível a avaliação da acuidade visual pré-operatória, todos apresentaram melhora ou manutenção da acuidade visual. No pós-operatório foi observado complicações associadas à doença de base e não propriamente ao transplante de membrana amniótica. Não foram registrados casos de infecção pós-operatória. Conclusão: Houve melhora do estado geral da superfície ocular em quase totalidade dos casos em que o transplante foi realizado. Portanto, a membrana amniótica pode ser considerada uma boa alternativa para reconstrução da superfície ocular, como tratamento único ou coadjuvante.

Interplay between Oxidative Stress, Inflammation, and Amyloidosis in the Anterior Segment of the Eye; Its Pathological Implications.

There are different pathologies associated with amyloidogenic processes caused by the increase of reactive oxygen species (ROS) and the overactivation of inflammatory responses. These alterations are present in different regions of the anterior segment of the eye, and they have been associated with the development and progression of ocular pathologies, such as glaucoma, dry eye syndrome, keratitis, and cataracts among other pathologies. Aim. To discuss briefly the anatomical characteristics of the anterior segment of the eye and describe the interaction between oxidative stress (OS) and inflammatory responses, emphasizing the misfolding of several proteins leading to amyloidogenic processes occurring in the anterior segment and their implications in the development of ocular diseases. We performed a search on PubMed, CINAHL, and Embase using the MeSH terms "eye," "anterior segment", "inflammation", "oxidative stress", and "amyloidosis". The search encompassed manuscripts published up to April 2019. A hundred forty-four published studies met the inclusion criteria. We present the current knowledge regarding the interaction between OS and the activation of inflammatory processes and how both can cause conformational changes in several peptides and proteins in each compartment of the anterior segment. However, we found that there is no consensus about which factor is the first to cause amyloidosis. Our conclusions suggest that there is an interplay among these factors forming a vicious cycle that leads to the loss of protein structure in ocular pathologies, and multifactorial therapies should be developed to avoid protein misfolding and to stop the progression of ocular pathologies.

Post-operative complications of penetrating corneal keratoplasty in patients with anterior segment toxic syndrome secondary to cataract surgery

INTRODUCTION: Toxic Anterior Segment Syndrome (TASS) after cataract surgery may cause severe corneal decompensation that compromises corneal transparency and may require penetrating corneal keratoplasty to improve visual acuity. OBJECTIVE: We evaluated the postoperative complications of patients who underwent penetrating corneal transplantation for severe corneal decompensation secondary to TASS after cataract surgery, such as persistent epithelial defect, glaucoma, and primary and secondary transplant button failure. We will also evaluate pre- and postoperative visual acuity, graft survival time, and the presence of anterior chamber disorganization. METHODS: Retrospective observational study in which a review of medical records of 9 patients diagnosed with TASS after cataract surgery who underwent penetrating corneal keratoplasty will occur. RESULTS: In the present study all operated patients had glaucoma after penetrating corneal transplantation, and this presence of glaucoma was not correlated with graft survival time and with any other parameter evaluated. The presence of persistent epithelial defect correlated negatively with visual acuity. CONCLUSION: Postoperative complications of penetrating corneal transplantation in patients with TASS were frequent, such as glaucoma, primary and secondary button failure and persistent epithelial defect. The only complication that compromised visual acuity was the persistent epithelial defect. All patients evolved with glaucoma.

Novel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld-Rieger syndrome.

PURPOSE: Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder that affects the anterior segment of the eye. The aim of this study was to examine the PITX2 gene to identify possible novel mutations in Pakistani and Mexican families affected by the ARS phenotype. METHODS: Three unrelated probands with a diagnosis of ARS were recruited for this study. Genomic DNA was isolated from the peripheral blood of the probands and their family members. Polymerase chain reaction and Sanger sequencing were used for the analysis of coding exons and the flanking intronic regions of the PITX2 gene. Bioinformatics tools and database (VarSome, Provean, and MutationTaster, SIFT, PolyPhen-2, and HOPE) were evaluated to explore missense variants. RESULTS: We identified novel heterozygous variations in the PITX2 gene that segregated with the ARS phenotype within the families. The variant NM_153426.2(PITX2):c.226G > T or p.(Ala76Ser) and the mutation NM_153426.2(PITX2):c.455G > A or p.(Cys152Tyr) were identified in two Pakistani pedigrees, and the mutation NM_153426.2(PITX2):c.242_265del or p.(Lys81_Gln88del), segregated in a Mexican family. CONCLUSION: Our study extends the spectrum of PITX2 mutations in individuals with ARS, enabling an improved diagnosis of this rare but serious syndrome.

Causes of congenital corneal opacities and their management in a tertiary care center / Causas de opacidades corneanas congênitas e seu controle em um centro de cuidados terciários

ABSTRACT Purpose: To evaluate causes and management of congenital corneal opacities (CCO) diagnosed in a tertiary care eye center and to compare the data with a previous study at the same institution. Methods: Computerized medical records in all patients with congenital corneal opacities diagnosed in the Cornea Service at Wills Eye Hospital (Philadelphia, PA) between January 1, 2007, and December 31, 2015, were retrospectively reviewed. Children aged 12 years and younger at the first visit were included in the study. Patients' demographics, ocular diagnosis, laterality, associated ocular abnormalities, other ocular surgery performed prior or subsequent to the first visit, and their treatment were extracted from the medical records. Results: A total of 77 eyes in 56 patients were examined. The mean age at presentation was 32.8 ± 44.2 months, with the mean follow-up period of 26.7 ± 30.1 months. The most frequent diagnosis was Peters anomaly (53.2%), followed by limbal dermoid (13.0%), aniridia with glaucoma and microphthalmos (6.5%), sclerocornea and congenital glaucoma (5.2%), idiopathic (3.9%), Axenfeld-Rieger anomaly and Hurler syndrome (2.6%), and microcornea (1.3%). Primary keratoplasty was performed in 26 eyes, with the outcome rate in the clear cornea of 76.0% during the follow-up. Conclusion: Peters anomaly is the most common cause of congenital corneal opacities encountered at our institution. Penetrating keratoplasty is the most frequent choice of corneal surgery to treat congenital corneal opacities. Additional interventions during penetrating keratoplasty were moderately positively correlated with graft failure. This study also shows the rates of some etiologies of that changed over the recent decades in our tertiary care Cornea Service. Although Peters anomaly remains the most common presenting reason for congenital corneal opacities, its rate appears to be increasing over the recent decade. Congenital corneal opacities due to birth trauma, which is one of the preventable causes, were observed in a previous study in our clinic; however, no new cases were noted in this study.

RESUMO Objetivo: Avaliar as causas e o controle das opa cidades corneanas congênitas diagnosticadas em um centro oftal mológico de atendimento terciário e comparar os dados com um estudo anterior realizado na mesma instituição. Métodos: Prontuários médicos informatizados de todos os pacientes com opacidade corneana congênita diagnosticada no Serviço de Córnea no Wills Eye Hospital (Filadélfia, PA) entre 1º de ja neiro de 2007 e 31 de dezembro de 2015 foram revisados retrospectivamente. Crianças com 12 anos ou menos na primeira consulta foram incluídas no estudo. A demografia dos pacientes, o diagnóstico ocular, a lateralidade, as anormalidades oculares associadas, outras cirurgias oculares realizadas antes ou após a primeira consulta e o tratamento foram extraídos dos prontuários médicos. Resultados: Um total de 77 olhos de 56 pacientes foi examinado. A idade média de apresentação foi de 32,8 ± 44,2 meses, com um tempo médio de acompanhamento de 26,7 ± 30,1 meses. O diagnóstico mais frequente foi anomalia de Peters (53,2%), seguido por dermóide límbico (13,0%), aniridia com glaucoma e microftalmia (6,5%), esclerocórnea e glaucoma congênito (5,2%), idiopático (3,9%), síndrome de Axenfeld-Rieger e síndrome de Hurler (2,6%) e microcórnea (1,3%). Ceratoplastia primária foi realizada em 26 olhos, com desfecho de córnea clara de 76,0% durante o acompanhamento. Conclusão: A anomalia de Peters é a causa mais comum de opacidade corneana congênita encontrada em nossa instituição. A ceratoplastia penetrante é a escolha mais frequente de cirurgia corneana para o tratamento de opacidades corneanas congênitas. Intervenções adicionais durante a ceratoplastia penetrante foram moderadamente correlacionadas positivamente com a falha do enxerto. Este estudo também mostra as taxas de algumas etiologias do que mudou ao longo faz últimas décadas em nosso serviço de córnea de atendimento terciário. Embora a anomalia de Peters continue a ser a causa mais comum das opacidades congênitas da córnea, sua taxa parece estar aumentando na última década. Opacidades congênitas da córnea devido a trauma no nascimento, que é uma das causas evitáveis, foram observadas em um estudo anterior em nossa clínica; no entanto, nenhum caso novo foi observado neste estudo.

Causes of congenital corneal opacities and their management in a tertiary care center.

PURPOSE: To evaluate causes and management of congenital corneal opacities (CCO) diagnosed in a tertiary care eye center and to compare the data with a previous study at the same institution. METHODS: Computerized medical records in all patients with congenital corneal opacities diagnosed in the Cornea Service at Wills Eye Hospital (Philadelphia, PA) between January 1, 2007, and December 31, 2015, were retrospectively reviewed. Children aged 12 years and younger at the first visit were included in the study. Patients' demographics, ocular diagnosis, laterality, associated ocular abnormalities, other ocular surgery performed prior or subsequent to the first visit, and their treatment were extracted from the medical records. RESULTS: A total of 77 eyes in 56 patients were examined. The mean age at presentation was 32.8 ± 44.2 months, with the mean follow-up period of 26.7 ± 30.1 months. The most frequent diagnosis was Peters anomaly (53.2%), followed by limbal dermoid (13.0%), aniridia with glaucoma and microphthalmos (6.5%), sclerocornea and congenital glaucoma (5.2%), idiopathic (3.9%), Axenfeld-Rieger anomaly and Hurler syndrome (2.6%), and microcornea (1.3%). Primary keratoplasty was performed in 26 eyes, with the outcome rate in the clear cornea of 76.0% during the follow-up. CONCLUSION: Peters anomaly is the most common cause of congenital corneal opacities encountered at our institution. Penetrating keratoplasty is the most frequent choice of corneal surgery to treat congenital corneal opacities. Additional interventions during penetrating keratoplasty were moderately positively correlated with graft failure. This study also shows the rates of some etiologies of that changed over the recent decades in our tertiary care Cornea Service. Although Peters anomaly remains the most common presenting reason for congenital corneal opacities, its rate appears to be increasing over the recent decade. Congenital corneal opacities due to birth trauma, which is one of the preventable causes, were observed in a previous study in our clinic; however, no new cases were noted in this study.

Self-Reported Quality of Life in Patients with Long-Standing Vogt-Koyanagi-Harada Disease.

Purpose: To assess health-related (HR-) and vision-related (VR-) quality of life (QoL) in patients with long-standing Vogt-Koyanagi-Harada disease (VKHD).Methods: Cross-sectional study of 49 patients with disease duration ≥12 months followed at Uveitis Service, Universidade de São Paulo, BR, for at least 12 months. HR- and VR-QoL were evaluated using SF-36 and NEI VFQ-25 questionnaires, respectively. Demographic, clinical and visual function data were compared with questionnaire scores.Results: After generalized linear models, lower mensal household income was associated with lower scores in both questionnaires while unemployment was associated with SF-36 questionnaire only. Treatment with peri-/intraocular medications and ocular surgery were associated with higher scores on SF-36 questionnaire. Worse visual acuity (VA), ocular complications and no ocular surgery were related to lower scores on NEI VFQ-25 questionnaire.Conclusions: On HR- and VR-QoL questionnaires difficulties perceived by patients with long-standing VKHD were mainly associated with socio-economic aspects, VA, local treatment and ocular complications.

Effects of two different contact lenses on ocular physiological parameters and tear function tests / Efeitos de duas lentes de contacto diferentes nos parâmetros fisiológicos oculares e nos testes de função lacrimal

Abstract Objective: To investigate the effects of two types of contact lenses made of two different types of silicone hydrogel material on ocular physiological parameters and tear function tests. Methods: The contact lenses with the appropriate diopters were supplied to the volunteering patients. The patients were evaluated before wearing the contact lenses (visit0:V0), at the first month(visit1:V1) and at the thirth month(visit2:V2) following their wear. At all visits a detailed biomicroscopic examination was done, ocular physiological variables were collected, the tear function tests were performed and the tear meniscus area (TMA) was visualized and measured with anterior segment optical coherence tomography (AS-OCT). Results: The results of Schirmer 1 test were 12.07 ± 1.51 [9-16] mm for the right eyes (samfilcon A group) and 12.09 ± 1.5 [9-16] mm for the left eyes (senofilcon A group) at V0. (p=0.950) At V2, the mean Schirmer 1 test results were 11.92±1.34 [9-15] mm in the samfilcon A group and 12.2±1.41 [9-16] mm in the senofilcon A group (p=0.239). The mean TMA dimensions in the AS-OCT images were 338.42±47.1 [241-401] microns in the samfilcon A group and 338.42±47.1 [241-401]microns in the senofilcon A group at V0. (p>0.05). At V2, the mean TMA dimensions were 337.2±45.53 [241-402] microns in thesamfilcon A group and 340.31±48.22 [240-411] microns in the senofilcon A group (p=0.728). Conclusions: Our study has demonstrated that contact lenses containing samfilcon A and senofilcon A silicone hydrogel material do not cause meaningful ocular surface problems.

Resumo Objetivo: Investigar os efeitos de dois tipos de lentes de contacto feitas de dois tipos diferentes de material de hidrogel de silicone nos parâmetros fisiológicos oculares e testes de função lacrimal. Métodos: As lentes de contacto com as dioptrias apropriadas foram fornecidas aos pacientes voluntários. Os pacientes foram avaliados antes do uso das lentes de contacto (visita0: V0), no primeiro mês (visita1: V1) e no terceiro mês (visita2: V2), após o uso destas. Em todas as visitas, foi realizado um exame biomicroscópico detalhado, as variáveis fisiológicas oculares foram recolhidas, os testes de função lacrimal foram realizados e a área do menisco lacrimal (TMA) foi visualizada e medida com tomografia de coerência óptica do segmento anterior (AS-OCT). Resultados: Os resultados do teste de Schirmer 1 foram 12,07 ± 1,51 [9-16] mm para os olhos direitos (grupo samfilcon A) e 12,09 ± 1,5 [9-16] mm para os olhos esquerdos (grupo senofilcon A) em V0. (p = 0,950) Em V2, os resultados médios do teste de Schirmer 1 foram 11,92 ± 1,34 [9-15] mm no grupo samfilcon A e 12,2 ± 1,41 [9-16] mm no grupo senofilcon A (p = 0,239). As dimensões médias do TMA nas imagens AS-OCT foram 338,42 ± 47,1 [241-401] mícrons no grupo samfilcon A e 338,42 ± 47,1 [241-401] mícrons no grupo senofilcon A em V0. (p> 0,05).> Em V2, as dimensões médias do TMA foram 337,2 ± 45,53 [241-402] mícrons no grupo samfilcon A e 340,31 ± 48,22 [240-411] mícrons no grupo senofilcon A (p = 0,728). Conclusões: O nosso estudo demonstrou que as lentes de contacto que contêm material de hidrogel de silicone de samfilcon A e senofilcon A não causam problemas significativos na superfície ocular.