Evaluation of Meibomian gland dysfunction using meibography in patients with xeroderma pigmentosum

ABSTRACT Purpose: To assess Meibomian gland dysfunction using meibography in patients with xeroderma pigmentosum and correlate with ocular surface changes. Methods: This cross-sectional study evaluated patients with xeroderma pigmentosum. All patients underwent a comprehensive and standardized interview. The best-corrected visual acuity of each eye was determined. Detailed ophthalmic examination was conducted, including biomicroscopy examination of the ocular surface, Schirmer test type I, and meibography, and fundus examination was also performed when possible. Meibomian gland dysfunction was assessed by non-contact meibography using Oculus Keratograph® 5M (OCULUS Inc., Arlington, WA, USA). Saliva samples were collected using the Oragene DNA Self-collection kit (DNA Genotek Inc., Ottawa, Canada), and DNA was extracted as recommended by the manufacturer. Factors associated with abnormal meiboscores were assessed using generalized estimating equation models. Results: A total of 42 participants were enrolled, and 27 patients underwent meibography. The meiboscore was abnormal in the upper eyelid in 8 (29.6%) patients and in the lower eyelid in 17 (62.9%). The likelihood of having abnormal meiboscores in the lower eyelid was 16.3 times greater than that in the upper eyelid. In the final multivariate model, age (p=0.001), mutation profile (p=0.006), and presence of ocular surface malignant tumor (OSMT) (p=0.014) remained significant for abnormal meiboscores. For a 1-year increase in age, the likelihood of abnormal meiboscores increased by 12%. Eyes with OSMT were 58.8 times more likely to have abnormal meiboscores than eyes without ocular surface malignant tumor. Conclusion: In the final model, age, xeroderma pigmentosum profile, previous cancer, and clinical alterations on the eyelid correlated with a meiboscore of ≥2. Meibomian gland dysfunction was common in patients with xeroderma pigmentosum, mainly in the lower eyelid. The severity of Meibomian gland dysfunction increases with age and is associated with severe eyelid changes.

Impression cytology of ocular surface in xeroderma pigmentosum

ABSTRACT Purpose: To describe cellular alterations detected by impression cytology of the ocular surface in patients with xeroderma pigmentosum. The secondary objective was to assess the reliability of impression cytology in diagnosing ocular surface squamous neoplasia. Methods: Patients with xeroderma pigmentosum underwent a single-day complete ophthalmological examination and impression cytology for ocular surface evaluation using 13 mm diameter mixed cellulose esters membrane filters and combined staining with Periodic Acid Schiff, Hematoxylin and Eosin, and Papanicolaou stains followed by microscopic analysis. The cytological findings were correlated with the clinical diagnosis. The impression cytology findings at baseline and one-year follow-up were correlated with the clinical course (no tumor, treated tumor, residual tumor recurrent tumor, new tumor). Results: Of the 42 patients examined, impression cytology was performed in 62 eyes of 34 participants (65% females). The mean age of patients was 29.6 ± 17 years (range 7-62). Fifteen eyes had a clinical diagnosis of ocular surface squamous neoplasia. Impression cytology showed goblet cells (47, 75%), inflammatory cells (12, 19%), keratinization (5, 8%), and squamous metaplasia (30, 48%). Impression cytology was positive for atypical cells in 18 patients (12 with and 6 without ocular surface squamous neoplasia). The sensitivity, specificity, positive predictive value, and negative predictive value of impression cytology (at baseline) for diagnosis of ocular surface squamous neoplasia were 80%, 87%, 67%, and 93%, respectively, using clinical diagnosis of ocular surface squamous neoplasia as the reference standard. Conclusion: Impression cytology has a moderate positive predictive value for the diagnosis of ocular surface squamous neoplasia in patients with xeroderma pigmentosum. However, the lack of detection of atypical cells on impression cytology has a high negative predictive value for ocular surface squamous neoplasia. Integration of impression cytology in the long-term management of high-risk patients, such as patients with xeroderma pigmentosum, can avoid unnecessary diagnostic biopsies.

Epidemiological Profile of the Contact Lens Sector of the Benjamin Constant Institute in Rio de Janeiro / Perfil Epidemiológico do Setor de Lentes de Contato do Instituto Benjamin Constant do Rio de Janeiro

Abstract Objective: The objective of this project is to describe the epidemiological profile of the Contact Lens Sector of the Benjamin Constant Institute in Rio de Janeiro. Methods: A retrospective study of 788 cases was carried out from March / 2004 to June / 2015. Results: Most of the objects in the cases were female (62.23%). As for the indication, 445 cases (56.47%) were optical, 281 cases (35.65%) were esthetic, 44 cases (5.58%) were prosthetic, and 18 cases (2.30%) were cosmetic. The most prevalent age group was from 20-39 years of age (46.34% of cases), followed by 40-64 years of age (25.31% of cases). Of the total of adapted cases, 81.6% were with rigid lenses, and among the optical medical indications, 61.4% of the cases were by keratoconus. Conclusions: Because it is a reference medical service, whose main objective is the rehabilitation of patients with low vision, the optical medical indication was the most frequent. The rigid lenses showed up with a prominent role in the adaptations.

Resumo Objetivo: Descrever as estatísticas do Setor de Lente de Contato do Instituto Benjamin Constant do Rio de Janeiro. Métodos: Estudo retrospectivo de 794 casos no período de março/2004 a junho/2015. Resultados: A maior parte dos casos foi do sexo feminino (62,21%) e a indicação mais frequente foi médicas ópticas (56,04%). A faixa etária mais prevalente foi a de 20-39 anos, correspondendo a 46,34%, e em seguida a de 40-64 anos (25,31%). Do total de casos adaptados, 81,6% foram com lentes rígidas. Entre as indicações médicas ópticas 61,4% dos casos foram por ceratocone. Conclusões: Por ser tratar em um serviço médico de referencia, cujo principal objetivo é a reabilitação de pacientes com visão subnormal, a indicação médica óptica foi a mais frequente. As lentes rígidas mostraram-se com papel de destaque nas adaptações.

Ceratoplastias penetrantes realizadas em serviço oftalmológico de referência revisão dos resultados e complicações / Penetrating keratoplasty performed at ophthalmologic reference service review of results and complications

Resumo Objetivo: Descrever o perfil epidemiológico, avaliar as complicações e a melhora da acuidade visual em pacientes submetidos a ceratoplastia penetrante na Policlínica de Botafogo-RJ. Métodos: Estudo transversal e retrospectivo, realizado no período de janeiro/2014 a abril/2018, com revisão de 27 prontuários de pacientes submetidos a transplante. Resultado: Dos 27 pacientes avaliados, 15 (55,5%) do sexo masculino e 12 (44,5%) eram do sexo feminino. A média de idade foi 46,7 (Dp 20,2). As indicações para realização de transplante foram úlcera de córnea 6 (22,2%), ceratocone 5 (18,5%), ceratopatia bolhosa 5 (18,5%), ceratopatia em faixa 2 (7,4%), leucoma 2 (7,4%), rejeição, 2 (7,4%), falência primária 1 (3,7%), recidiva da infecção 1 (3,7%), ectasia corneana pós LASIK 1 (3,7%), descemetocele 1 (3,7%) e distrofia granular 1 (3,7%). As principais complicações 4 (26,6%) foram a ocorrência de glaucoma e catarata. Em relação a acuidade visual, no período pré transplante 22 (81.5%) dos pacientes apresentavam a melhor AV corrigida pior ou igual a 20/400. No pós-operatório apenas 9 (33.3%) se mantiveram com a melhor AV corrigida pior ou igual a 20/400. Conclusão: Estudos dessa natureza nos permite o aprimoramento cirúrgico, acompanhamento pós-operatório e cuidado com os pacientes.

Abstract Objective: To describe the epidemiological profile, complications and visual acuity improvement in patients submitted to penetrating keratoplasty in the Policlínica de Botafogo-RJ. Methods: Cross - sectional and retrospective study, carried out from January 2014 to April 2018, with review of 27 charts of patients submitted to transplantation. Results: Of the 27 patients evaluated, 15 (55.5%) were male and 12 (44.5%) were female. Mean age was 46.7 (DP 20.2). The indications for transplantation were corneal ulcer 6 (22.2%), keratoconus 5 (18.5%), bullous keratopathy 5 (18.5%), keratopathy in lane 2 (7.4%), leukoma 2 (7.4%), rejection, 2 (7.4%), primary failure 1 (3.7%), recurrence of infection 1 (3.7%), corneal ectasia after LASIK 1 (3.7%), descemetocele 1 (3.7%) and granular dystrophy 1 (3.7%). The main complications 4 (26.6%) were the occurrence of glaucoma and cataract. Regarding visual acuity, in the pre-transplant period 22 (81.5%) of the patients had the best corrected VA worse than or equal to 20/400. Conclusion: Studies of this nature allow us to improve surgical, postoperative follow-up and patient care.

Síndrome de Bardet-Biedl: série de caso e revisão da literatura / Bardet- Biedl Syndrome: case series and literature revision

Resumo A Síndrome de Bardet-Biedl é uma desordem autossômica recessiva rara, com heterogeneidade clínica e genética. As principais características são retinopatia pigmentar, obesidade, polidactilia, dificuldades de aprendizado, diversos graus de deficiência intelectual, anomalias renais e hipogonadismo. O objetivo desse trabalho é relatar dois casos de síndrome de Bardet-Biedl em pacientes diagnosticados no Instituto Benjamin Constant e fazer uma revisão literária da síndrome. Revisão de prontuário e pesquisa bibliográfica nas bases de dados do PubMed, SciELO, MEDLINE e LILACS. Atualmente não há tratamento para a Síndrome de Bardet-Biedl, mas o diagnóstico precoce é importante para orientar a gestão da criança através de uma avaliação regular da pressão arterial, peso, estudos de imagiologia renais, exames oftalmológicos e apoio psicológico.

Abstract The Bardet-Biedl Syndrome is a rare autosomal recessive disorder with clinical and genetic heterogeneity. Its main characteristics are pigmentary retinopathy, obesity, polydactyly, learning disabilities, various degrees of intellectual disability, renal anomalies and hypogonadism. The objective of this study is to report two cases of the Bardet-Biedl syndrome in patients diagnosed at the Benjamin Constant Institute and to perform a literary review of the syndrome. Review of medical records and bibliographic research were made from the PubMed, SciELO, MEDLINE and LILACS databases. Currently, treatment for the Bardet-Biedl Syndrome does not exist, but early diagnosis is important to guide the child through a regular assessment of blood pressure, weight, renal imaging studies, eye exams and psychological support.

Oftalmomiíase externa / External ophthalmomyiasis

RESUMO O objetivo deste resumo é relatar um caso de portador de oftalmomiíase externa, discorrendo sobre o quadro clínico, os diagnósticos diferenciais e as opções de tratamento. As informações foram obtidas por meio de revisão do prontuário, entrevista com o paciente e registro fotográfico dos métodos diagnósticos e terapêuticos aos quais o paciente foi submetido. Dados foram analisados junto a uma extensa revisão da literatura. O nosso artigo relata um caso de um paciente que foi inicialmente diagnosticado e tratado como celulite pré -septal e após avaliação de especialista em oculoplástica foi realizado o diagnóstico e tratamento adequado para oftalmomiíase. Também revela a importância deste diagnóstico, infrequente nos grandes centros urbanos, seu tratamento e evolução.

ABSTRACT The purpose of this report is to describe a case of external ophthalmomyiasis, discussing the clinical picture, differential diagnoses and treatment options. The information was obtained by means of a review of the medical record, an interview with the patient and a photographic record of the diagnostic and therapeutic methods to which the patient was submitted. Data were analyzed together with an extensive review of the literature. Our article reports a case of a patient who was initially diagnosed and treated for pre-septal cellulitis and after evaluation by a specialist in oculoplastics, the diagnosis and appropriate treatment for ophthalmomyiasis was performed. It also reveals the importance of this diagnosis, infrequent in large urban centers, its treatment and evolution.

Perfil epidemiológico das aplicações intravítreas de Ranibizumab / Epidemiological profile of Ranibizumab intravitreal applications

Resumo Objetivo: O objetivo desse trabalho é avaliar o perfil de aplicações intravítreas do Ranibizumab em uma população de adultos atendidos no Instituto Benjamin Constant, no ano de 2015, levando em consideração o efeito sobre a acuidade visual e a espessura macular após tratamento. O objetivo secundário é apresentar as principais indicações desse tipo tratamento no serviço de olhos acima citado. Métodos: Foi realizado um estudo retrospectivo seccional, em indivíduos acima de 20 anos entre os meses de março a agosto de 2015, para analisar a acuidade visual e espessura foveal pré e pós tratamento. A dose do anti-VEGF utilizada foi de 0,05ml por aplicação com intervalo de quatro semanas entre elas. A aferição da acuidade visual assim como o OCT pós tratamento foram realizados em torno de trinta dias após a última aplicação. As análises estatísticas foram feitas com uso do software SPSS versão 21 e o nível de significância estatística foi de 95% com um valor de p <0,05. Resultado: O estudo mostrou que a principal afecção relacionada a esse tratamento foi a retinopatia diabética não proliferativa associada ao edema macular (32,8%). Após o tratamento indicado com Ranibizumab, houve uma melhora da acuidade visual média de 0,70 para 0,59 (logMAR) e uma regressão da espessura macular, visto no OCT, de 408,1µm para 337,2 µm (valor de p <0,05). Conclusão: Pode-se concluir portanto, que o tratamento com Ranibizumab na população estudada contribuiu para uma melhor qualidade de vida dos pacientes, pois a maioria dele apresentou uma melhora estatisticamente significativa na acuidade visual após as aplicações.

Abstract The objective of this work is to evaluate the profile of intravitreal applications of Ranibizumab in a population of adults attended at the Benjamin Constant Institute in the year of 2015, taking into account the effect on visual acuity and macular thickness after the treatment. The secondary objective is to present the main indications of this type of treatment in the eye care mentioned above. A retrospective cross-sectional study was performed in individuals over 20 years of age between March and August of 2015 to analyze visual acuity and foveal thickness before and after treatment. The dose of anti-VEGF used was 0.05 ml per application with an interval of four weeks between them. Visual acuity assessment as well as OCT post treatment were performed around 30 days after the last application. Statistical analyses were performed using SPSS software version 21 and the level of statistical significance was of 95% with a value of p <0.05. The study showed that the main condition related to this treatment was non-proliferative diabetic retinopathy associated with macular edema (32.8%). After treatment indicated with Ranibizumab, there was an improvement in the average visual acuity from 0.70 to 0.59 (logMAR) and a regression of the macular thickness, seen in the OCT, from 408.1μm to 337.2μm (p < 0.05). It can be concluded, therefore, that treatment with Ranibizumab in the studied population contributed to a better quality of life of the patients, since most of them presented a statistically significant improvement in the visual acuity after the applications.

Avaliação da melhora da acuidade visual após adaptação de lentes de contato em pacientes portadores de ceratocone / Evaluation of visual acuity improvement after adaptation of contact lenses in patients with keratoconus

Resumo Objetivo: Avaliar a eficácia na adaptação de lentes de contato em relação à melhora da acuidade visual em pacientes portadores de ceratocone. Métodos: Foi realizado um estudo retrospectivo, através de revisão de prontuários médicos, em 175 pacientes (326 olhos) portadores de ceratocone, atendidos no período de março/2004 a junho/2015. Foram coletados os dados sobre sexo, idade, número de olhos adaptados, severidade do ceratocone e acuidade visual com óculos e com lentes de contato. Resultados: Dos pacientes avaliados, 100 pacientes (57,4%) eram do sexo feminino e 75 pacientes (42,6%) do sexo masculino. Dos olhos classificados, 267 (81,9%) tinham ceratocone moderado (45 a 52D). A faixa etária mais frequente foi de 10-39 anos (84%) e a taxa de sucesso ao fim do tratamento foi de 92,3% (acuidade visual boa ou satisfatória). Conclusão: A adaptação de lentes de contato mostrou-se eficaz em proporcionar importante melhora da acuidade visual em pacientes portadores de ceratocone.

Abstract Objective: To evaluate the efficiency of the contact lens adaptation in relation to the improvement of visual acuity in patients with keratoconus. Methods: A retrospective study of 175 patients (326 eyes) with keratoconus was carried out from March 2004 to June 2015. Data on sex, age, number of adapted eyes, keratoconus severity, and visual acuity with glasses and contact lenses were collected. Results: Of the classified eyes, 267 (81.9%) had moderate keratoconus (45 to 52D). The most frequent age group was 10-39 years of age (84%) and the success rate at the end of treatment was 92.3% (good or satisfactory visual acuity). Conclusion: Adaptation of contact lenses was effective in providing important improvement of visual acuity in patients with keratoconus.

Phenotypic expression variability in Best Disease: a purpose of a series of cases / Variabilidade de expressão Fenotípica na Doença de Best: a propósito de uma série de casos

Abstract The objective of the following work is to document the phenotypic expression variability in Best Disease in first-degree relatives. The information was collected by assessing medical notes, interviewing the patient and obtaining photographic record of the diagnostic methods to which the patient was submitted. Data was analyzed along with a thorough review of the literature. A series of cases were reported in which the patient presenting the phenotypic characteristics of the disease has first degree relatives without ophthalmic findings during examination, but present an abnormal pattern on the electro-oculogram (EOG). Our article reveals the importance of electrophysiological exams in the diagnosis of Best vitelliform macular dystrophy, including the prevention of its clinical manifestation (autosomal dominant), providing concrete subsidies for genetic counseling.

Resumo O objetivo do presente trabalho é a documentação da variabilidade de expressão fenotípica da Doença de Best em parentes de primeiro grau. As informações foram obtidas por meio de revisão do prontuário, entrevista com o paciente e registro fotográfico dos métodos diagnósticos aos quais os pacientes foram submetidos. Dados foram analisados junto a uma extensa revisão da literatura. Relatamos uma série de casos, no qual o paciente que apresenta as alterações fenotípicas da doença tem familiares de primeiro grau sem alterações ao exame oftalmológico, porém os mesmos apresentam padrão anormal de eletro-oculograma (EOG). O nosso artigo revela a importância dos exames eletrofisiológicos no diagnóstico da distrofia macular viteliforme de Best, inclusive no que se refere à prevenção de sua manifestação clínica (autossômica dominante), fornecendo subsídios concretos para o aconselhamento genético.

Assessment of visual acuity improvement in patients with AMD referred to the low vision department / Avaliação da melhora da acuidade visual em pacientes com DMRI encaminhados ao setor de visão subnormal

Abstract Purpose: To evaluate the vision improvement through the use of visual aids of patients with Age-Related Macular Degeneration (AMD) those were examined in the low vision department. Methods: A retrospective study was conducted by reviewing medical records of 61 patients with AMD who were referred to the Low Vision Department from January 2012 to December 2014. The data collected included age, sex, diagnosis of the type of AMD and previous use of vascular endothelium growth factor inhibitor or antioxidants. In addition, far acuity, with and without optical aid, was indicated as well as which aid was prescribed. Results: In this study with 61 patients, 54.1% were male and 45.9% female. The most prevalent age group was 71-80 years old (44.3%) and most of the patients had the dry form of AMD (70.5%). With the use of visual aids, 73.8% of the patients improved visual acuity for far vision. The most prescribed optical aid was the Galileu 2.8x telescope (50.8%). Conclusion: Patients with visual impairment and AMD can benefit significantly from the visual aids if they are properly prescribed and fitted. Most patients in the study were fitted with at least one of the indicated visual aids, resulting in a significant improvement in far acuity.

Resumo Objetivo: Avaliar a melhora da visão através de auxílios visuais em pacientes portadores de Degeneração Macular Relacionada a Idade (DMRI) encaminhados ao serviço de visão subnormal. Métodos: Foi realizado um estudo retrospectivo, através da revisão 61 prontuários de pacientes com diagnóstico de DMRI que foram encaminhados ao departamento de Visão Subnormal (VSN), no período de janeiro 2012 a dezembro de 2014. Foram coletados dados sobre idade, sexo, diagnóstico do tipo de DMRI e uso prévio de inibidor do fator de crescimento do endotélio vascular (anti-VEGF) ou antioxidante. Além disso, outras informações foram colhidas como acuidade visual para longe sem auxílio e com auxílio óptico, indicando o(s) auxílio(s) óptico(s) prescrito(s). Resultados: Dos 61 pacientes avaliados, 54,1% eram do sexo masculino e 45,9% do sexo feminino. A faixa etária mais prevalente foi de 71-80 anos (44,3%) e a maioria (70,5%) apresentava a forma seca de DMRI. Com o uso de recursos visuais, 73,8% dos tiveram melhora da acuidade visual para longe. O auxilio óptico mais prescrito foi o telescópio do tipo Galileu 2,8x (50,8%). Conclusão: Pacientes com deficiência visual e DMRI podem se beneficiar significativamente dos recursos visuais se esses forem devidamente indicados e adaptados. A maioria dos pacientes aceitou pelo menos um dos recursos visuais indicados resultando numa melhora importante da acuidade visual de longe.