Erdheim-Chester disease with chorioretinal and orbital involvement: a case report / Doença de Erdheim-Chester com envolvimento coriorretiniano e orbitário: relato de caso

ABSTRACT A 42-year-old woman presented with bilateral proptosis, chemosis, leg pain, and vision loss. Orbital, chorioretinal, and multi-organ involvement of Erdheim-Chester disease, a rare non-Langerhans histiocytosis, with a negative BRAF mutation was diagnosed based on clinical, radiological, and pathological findings. Interferon-alpha-2a (IFNα-2a) was started, and her clinical condition improved. However, 4 months later, she had vision loss with a history of IFNα-2a cessation. The same therapy was administered, and her clinical condition improved. The Erdheim-Chester disease is a rare chronic histiocytic proliferative disease that requires a multidisciplinary approach and can be fatal if left untreated because of multisystemic involvements.

RESUMO Uma mulher de 42 anos apresentou proptose bi-lateral, quemose, dor nas pernas e perda de visão. Com base em achados clínicos, radiológicos e patológicos, foi diag-nosticada doença de Erdheim-Chester com acometimento orbitário, coriorretiniano e multiorgânico. Trata-se de uma rara histiocitose não Langerhans negativa para a mutação BRAF. Foi iniciado tratamento com interferon alfa-2a (IFNα-2a) e o quadro clínico melhorou. No entanto, quatro meses depois, a paciente apresentou perda visual após a cessação do IFNα-2a. A mesma terapia foi administrada novamente e sua condição clínica melhorou novamente. A doença de Erdheim-Chester é uma doença proliferativa histiocítica crônica rara que necessita de uma abordagem multidisciplinar e pode ser fatal se não tratada, devido a envolvimentos multissistêmicos.

Erdheim-Chester disease with chorioretinal and orbital involvement: a case report.

A 42-year-old woman presented with bilateral proptosis, chemosis, leg pain, and vision loss. Orbital, chorioretinal, and multi-organ involvement of Erdheim-Chester disease, a rare non-Langerhans histiocytosis, with a negative BRAF mutation was diagnosed based on clinical, radiological, and pathological findings. Interferon-alpha-2a (IFNα-2a) was started, and her clinical condition improved. However, 4 months later, she had vision loss with a history of IFNα-2a cessation. The same therapy was administered, and her clinical condition improved. The Erdheim-Chester disease is a rare chronic histiocytic proliferative disease that requires a multidisciplinary approach and can be fatal if left untreated because of multisystemic involvements.

Erdheim-Chester disease with chorioretinal and orbital involvement: a case report.

A 42-year-old woman presented with bilateral proptosis, chemosis, leg pain, and vision loss. Orbital, chorioretinal, and multi-organ involvement of Erdheim-Chester disease, a rare non-Langerhans histiocytosis, with a negative BRAF mutation was diagnosed based on clinical, radiological, and pathological findings. Interferon-alpha-2a (IFNα-2a) was started, and her clinical condition improved. However, 4 months later, she had vision loss with a history of IFNα-2a cessation. The same therapy was administered, and her clinical condition improved. The Erdheim-Chester disease is a rare chronic histiocytic proliferative disease that requires a multidisciplinary approach and can be fatal if left untreated because of multisystemic involvements.

Corneal biomechanical features in patients with ankylosing spondylitis.

PURPOSE: To evaluate the corneal biomechanical features and central corneal thickness in ankylosing spondylitis patients and to evaluate correlations of these parameters with disease activity. METHODS: The study included 51 patients diagnosed with ankylosing spondylitis (mean age, 40.80 ± 13.15 years; range, 18-72 years) and 34 age- and sex-matched healthy controls (mean age, 42.00 ± 12.32 years; range, 18-60 years). All underwent a complete ophthalmological and physical examination, including visual acuity testing and biomicroscopic anterior and posterior segment examinations. Corneal hysteresis, corneal resistance factor, Goldmann-correlated intraocular pressure, and corneal compensated intraocular pressure were evaluated with an ocular response analyzer, and the central corneal thickness was measured with Sirius® corneal tomography. The Bath Ankylosing Spondylitis Disease Activity Index, Functional Index, and Metrology Index scores were recorded. RESULTS: In the ankylosing spondylitis patients, the mean disease duration was 7.73 ± 6.05 (range, 1-30) years. There was no statistically significant difference between the patients and controls in the corneal biomechanical features. The Goldmann-correlated intraocular pressure and corneal compensated intraocular pressure both showed positive correlations with age (p=0.003 and p=0.001, res-pectively). There was a negative correlation between corneal hysteresis and disease duration (p=0.002), and between central corneal thickness and the Bath Ankylosing Spondylitis Metrology Index score (p=0.003). CONCLUSION: This study demonstrated a significant negative correlation between corneal hysteresis and disease duration in ankylosing spondylitis patients. Furthermore, the central corneal thickness value decreased with an increase in Bath Ankylosing Spondylitis Metrology Index score, which may result in an underestimate of intraocular pressure readings and thus an inaccurate risk assessment of glaucoma.

Corneal biomechanical features in patients with ankylosing spondylitis / Características biomecânicas da córnea entre pacientes com espondilite anquilosante

ABSTRACT Purpose: To evaluate the corneal biomechanical features and central corneal thickness in ankylosing spondylitis patients and to evaluate correlations of these parameters with disease activity. Methods: The study included 51 patients diagnosed with ankylosing spondylitis (mean age, 40.80 ± 13.15 years; range, 18-72 years) and 34 age- and sex-matched healthy controls (mean age, 42.00 ± 12.32 years; range, 18-60 years). All underwent a complete ophthalmological and physical examination, including visual acuity testing and biomicroscopic anterior and posterior segment examinations. Corneal hysteresis, corneal resistance factor, Goldmann-correlated intraocular pressure, and corneal compensated intraocular pressure were evaluated with an ocular response analyzer, and the central corneal thickness was measured with Sirius® corneal tomography. The Bath Ankylosing Spondylitis Disease Activity Index, Functional Index, and Metrology Index scores were recorded. Results: In the ankylosing spondylitis patients, the mean disease duration was 7.73 ± 6.05 (range, 1-30) years. There was no statistically significant difference between the patients and controls in the corneal biomechanical features. The Goldmann-correlated intraocular pressure and corneal compensated intraocular pressure both showed positive correlations with age (p=0.003 and p=0.001, res­pectively). There was a negative correlation between corneal hysteresis and disease duration (p=0.002), and between central corneal thickness and the Bath Ankylosing Spondylitis Metrology Index score (p=0.003). Conclusion: This study demonstrated a significant negative correlation between corneal hysteresis and disease duration in ankylosing spondylitis patients. Furthermore, the central corneal thickness value decreased with an increase in Bath Ankylosing Spondylitis Metrology Index score, which may result in an underestimate of intraocular pressure readings and thus an inaccurate risk assessment of glaucoma.

RESUMO Objetivo: Avaliar as características biomecânicas da córnea e espessura central da córnea em pacientes com espondilite anquilosante e analisar a correlação destes parâmetros no grupo de estudo com a atividade da doença. Métodos: Foram incluídos no estudo 51 pacientes com diagnóstico de espondilite anquilosante e 34 controles saudáveis com idade e sexo. Todos os sujeitos foram submetidos a um exame oftalmológico e físico completo, incluindo exames de acuidade visual, exames de segmento anterior e posterior biomicroscópicos. Foram avaliados o coeficiente de resistência da córnea, a pressão intraocular correlacionada com Goldmann e a pressão intraocular compensada da córnea com o analisador de resposta ocular, a espessura corneana central com a tomografia corneana pelo Sirius®. Se o índice de atividade da doença de espondilite anquilosante de banho, o índice funcional de espondilite anquilosante de banho, o índice de metrologia de espondilite anquilosante de banho. Resultados: Foram incluídos no estudo 51 pacientes com idade média de 40,80 ± 13,15 (intervalo: 18-72) anos e 34 casos de controle com idade média de 42,00 ± 12,32 (intervalo: 18-60) anos. No grupo espondilite anquilosante a duração média da doença foi de 7,73 ± 6,05 (1,00-30,00) anos. Não houve diferença estatisticamente significante entre dois grupos quanto às características biomecânicas da córnea. Na análise de correlação, no grupo de estudo; pressão intraocular correlacionada com Goldmann e pressão intraocular compensada da córnea estavam positivamente correlacionados com a idade (p=0,003, p=0,001, respectivamente). Houve uma correlação negativa entre a duração da doença e CH (p=0,002), e entre índice de metrologia de espondilite anquilosante de banho e espessura corneana central (p=0,003). Conclusão: Este estudo demonstrou correlação negativa significativa entre a duração da doença e a histerese corneal em pacientes com espondilite anquilosante. Além disso, com um aumento na pontuação de índice de metrologia de espondilite anquilosante de banho, o valor de espessura corneana central também estava di­minuindo o que pode causar uma diminuição nas leituras de pressão intraocular artificialmente e resultar em avaliação de risco imprecisa de glaucoma.

Evaluation of inner segment/outer segment junctions in different types of epiretinal membranes.

PURPOSE:: This study was conducted to evaluate the relationships of inner/outer segment (IS/OS) junction disruption, macular thickness, and epiretinal membrane (ERM) grade with best-corrected visual acuity (BCVA), as well as the relationship between IS/OS junction disruption and ERM grade. METHODS:: Fifty-four eyes of 54 patients with different grades of ERM were retrospectively reviewed. Patients were classified into three groups by ERM grade according to retinal striae and vessel distortion: grade/group 1, visible membranes without retinal striae or vessel distortion; grade/group 2, mild to moderate macular striae or vessel straightening; and grade/group 3, moderate to severe striae and vascular straightening. Correlations of BCVA with age, central retinal thickness, ERM grade, and IS/OS disruption as well as of IS/OS disruption, central macular thickness, and BCVA with ERM grade were evaluated. RESULTS:: Twenty-nine (53.7%) eyes exhibited IS/OS junction disruption. Groups 1 and 2 differed significantly with respect to BCVA (p=0.038), but groups 2 and 3 did not (p=0.070). Central macular thickness was significantly greater in group 2 than in group 1 (p=0.031) and in group 3 than in group 2 (p=0.033). Groups 1 and 2 differed significantly in terms of IS/OS disruption (p=0.000), but groups 2 and 3 did not (p=0.310). CONCLUSIONS:: The IS/OS junction appears to be disrupted during the early stages of ERM. Grade 3 ERM is associated with a significantly higher incidence of IS/OS disruption.

Evaluation of inner segment/outer segment junctions in different types of epiretinal membranes / Avaliação da junção segmento interno/segmento externo em diferentes graus de membranas epirretinianas

ABSTRACT Purpose: This study was conducted to evaluate the relationships of inner/outer segment (IS/OS) junction disruption, macular thickness, and epiretinal membrane (ERM) grade with best-corrected visual acuity (BCVA), as well as the relationship between IS/OS junction disruption and ERM grade. Methods: Fifty-four eyes of 54 patients with different grades of ERM were retrospectively reviewed. Patients were classified into three groups by ERM grade according to retinal striae and vessel distortion: grade/group 1, visible membranes without retinal striae or vessel distortion; grade/group 2, mild to moderate macular striae or vessel straightening; and grade/group 3, moderate to severe striae and vascular straightening. Correlations of BCVA with age, central retinal thickness, ERM grade, and IS/OS disruption as well as of IS/OS disruption, central macular thickness, and BCVA with ERM grade were evaluated. Results: Twenty-nine (53.7%) eyes exhibited IS/OS junction disruption. Groups 1 and 2 differed significantly with respect to BCVA (p=0.038), but groups 2 and 3 did not (p=0.070). Central macular thickness was significantly greater in group 2 than in group 1 (p=0.031) and in group 3 than in group 2 (p=0.033). Groups 1 and 2 differed significantly in terms of IS/OS disruption (p=0.000), but groups 2 and 3 did not (p=0.310). Conclusions: The IS/OS junction appears to be disrupted during the early stages of ERM. Grade 3 ERM is associated with a significantly higher incidence of IS/OS disruption.

RESUMO Objetivo: Este estudo foi realizado para avaliar a relação entre a interrupção da junção segmento interno/segmento externo (IS/OS), espessura macular e grau de membrana epirretiniana (ERM), com a melhor acuidade visual corrigida (BCVA), e a relação entre a interrupção da junção IS/OS com a severidade da ERM. Métodos: Cinquenta e quatro olhos de 54 pacientes com diferentes graus de ERM foram avaliados retrospectivamente. ERMs foram classificadas, de acordo com as estrias de retina e a distorção dos vasos, em 3 grupos: grupo 1 foram membranas visíveis sem estrias retinianas ou distorção dos vasos, grupo 2 membranas com estrias maculares discretas a moderadas ou retificação dos vasos, e grupo 3 membranas com estrias moderadas a graves e retificação vascular. A correlação da BCVA com a idade, espessura central da retina, severidade da ERM e interrupção da junção IS/OS foram avaliadas. A relação de interrupção da junção IS/OS, a espessura macular central e acuidade visual com a severidade da ERM também foram avaliadas. Resultados: Vinte e nove olhos (53,7%) apresentavam interrupção da junção IS/OS. A BCVA foi diferente entre ERMs grupo 1 e grupo 2 (p=0,038), a diferença entre o grupos 2 e 3 não foi estatisticamente significativa (p=0,070). A espessura macular central foi estatisticamente maior no grupo 2, quando comparado ao grupo 1 (p=0,031) e maior no grupo 3 quando comparado ao grupo 2 (p=0,033). A diferença entre o grupo 1 e grupo 2 em relação à interrupção da junção IS/OS foi estatisticamente significativa (p=0,000), ao passo que a diferença entre o grupo 2 e do grupo 3 não foi estatisticamente significativa (p=0,310). Conclusões: As junções IS/OS parecem estar interrompidas nos estágios iniciais da ERM. O grau 3 de ERM têm uma maior incidência significativa de interrupção da junção IS/OS.

Tear osmolarity and tear function assessment in patients with polycystic ovary syndrome / Avaliação da osmolaridade lacrimal e da função lacrimal em pacientes com síndrome dos ovários policísticos

ABSTRACT Purpose: Polycystic ovary syndrome (PCOS) is an endocrine disease characterized by chronic anovulation and hyperandrogenism. Hormonal changes can affect tear function. This study evaluates tear function and impact of hyperandrogenism on it in PCOS patients. Methods: Fifty patients with PCOS and thirty control volunteers were examined for tear break-up time, Schirmer-I and tear osmolarity. Also, serum levels of total testosterone, FSH, LH and AMH were determined in venous blood samples in the early follicular phase. PCOS patients were divided into two groups by plasma total testosterone level: Group A with normal (≤0.513 ng/ml;n=27), Group B with higher hormone level (>0.513 ng/ml;n=23). Healthy control group indicated as Group C (n=30). Results: LH, total testosterone levels were higher in the PCOS group than in the control group (p=0.012; p=0.025). Mean values of tear break-up time and Schirmer-I were different between groups and especially Group A and C were near to each other differing from B (p>0.05). Tear osmolarity results were higher in Group B, compared to A and C (p=0.049; p=0.033). No significant difference detected in tear osmolarity value means of Group A and C (p=0.107). AMH levels were higher in Group B, compared to A and C (p=0.002; p=0.001). AMH levels in Group A were higher than that of C (p=0.002). Positive correlation between levels of total testosterone and AMH was detected in all PCOS patients (n=50;Pearson's r=0.579; p<0.001). Conclusion: Tear function can be affected in PCOS patients with hyperandrogenism. Tear osmolarity is the most sensitive and objective assessment method for ocular surface changes in PCOS.

RESUMO Objetivo: A síndrome do ovário policístico (SOP) é uma doença endócrina caracterizada por anovulação crônica e hiperandrogenismo. As alterações hormonais podem afetar a função cardíaca. Este estudo avalia a função lacrimal e o impacto do hiperandrogenismo sobre ela em pacientes com SOP. Métodos: Cinquenta pacientes com SOP e trinta voluntárias de controle foram examinadas para tempo de ruptura lacrimal, Schirmer-I e osmolaridade lacrimal. Além disso, os níveis séricos de testosterona total, FSH, LH e HAM foram determinados em amostras de sangue venoso na fase folicular precoce.As pacientes com SOP foram divididas em dois grupos por nível de testosterona plasmática total: Grupo A com nível normal (≤0.513 ng/ml; n = 27), Grupo B com nível superior de hormônio (> 0,513 ng/ml; n = 23). Grupo de controle saudável indicado como Grupo C (n = 30). Resultados: Os níveis de LH e testosterona total foram maiores no grupo com SOP do que no grupo controle (p = 0,012; p = 0,025). Os valores médios de tempo de ruptura lacrimal e Schirmer-I foram diferentes entre os grupos, e especialmente os Grupos A e C estavam próximos um do outro, diferente do B (p > 0,05). Os resultados de osmolaridade lacrimal foram maiores no Grupo B, em comparação com A e C (p = 0,049; p = 0,033). Não houve diferença significativa detectada em valor médio de osmolaridade lacrimal nos Grupos A e C (p = 0,107). Os níveis de HAM foram maiores no Grupo B, em comparação com A e C (p = 0,002; p = 0,001). Os níveis de AMH no Grupo A foram superiores aos de C (p = 0,002). Uma correlação positiva entre os níveis de testosterona total e AMH foi detectada em todas as pacientes com SOP (n = 50; Pearson's r = 0,579; p < 0,001). Conclusão: a função lacrimal pode ser afetada em pacientes com SOP com hiperandrogenismo. A osmolaridade lacrimal é o método de avaliação mais sensível e objetivo para alterações da superfície ocular em SOP.

Factors affecting visual acuity after accelerated crosslinking in patients with progressive keratoconus.

PURPOSE: The present study aimed to report the outcomes of patients with progressive keratoconus who were treated via accelerated crosslinking (CXL) 6 months earlier and to determine the factors that promoted improved visual acuity after treatment. METHODS: This retrospective study included 35 eyes of 34 patients with progressive keratoconus who underwent CXL. Topographical measurements were obtained preoperatively and in the first, third, and sixth months postoperatively using a rotating Scheimpflug camera. The uncorrected visual acuity (UCVA), best-corrected visual acuity (BCVA), flat keratometry (K) value (K1), steep K value (K2), average K value (avgK), topographic cylindrical value (Cyl), apical keratoscopy front (AKf), apical keratoscopy back (AKb), symmetry index front (SIf), symmetry index back (SIb), and thinnest point of the cornea (ThkMin) were recorded. RESULTS: At the 6-month follow-up, the mean UCVA and BCVA values were improved, and the K values remained stable. Statistically significant decreases in AKf (p=0.04) and the thinnest point of the cornea (p=0.001) and a statistically significant increase in AKb (p=0.01) were observed. A correlation analysis revealed that the preoperative BCVA, UCVA, K1, K2, avgK, AKf, and AKb values significantly affected visual acuity at the 6-month follow-up. CONCLUSIONS: Accelerated CXL is an effective treatment for the prevention or even reversal of keratoconus progression. The preoperative K values and apexes of the anterior and posterior cornea were found to affect visual acuity at 6 months after accelerated CXL. Both AKb steepening and AKf flattening appear to be important factors in the stabilization of keratometric values and improvement of visual outcomes.

Factors affecting visual acuity after accelerated crosslinking in patients with progressive keratoconus / Fatores que afetam a acuidade visual após crosslinking acelerado entre pacientes com ceratocone progressivo

ABSTRACT Purpose: The present study aimed to report the outcomes of patients with progressive keratoconus who were treated via accelerated crosslinking (CXL) 6 months earlier and to determine the factors that promoted improved visual acuity after treatment. Methods: This retrospective study included 35 eyes of 34 patients with progressive keratoconus who underwent CXL. Topographical measurements were obtained preoperatively and in the first, third, and sixth months postoperatively using a rotating Scheimpflug camera. The uncorrected visual acuity (UCVA), best-corrected visual acuity (BCVA), flat keratometry (K) value (K1), steep K value (K2), average K value (avgK), topographic cylindrical value (Cyl), apical keratoscopy front (AKf), apical keratoscopy back (AKb), symmetry index front (SIf), symmetry index back (SIb), and thinnest point of the cornea (ThkMin) were recorded. Results: At the 6-month follow-up, the mean UCVA and BCVA values were improved, and the K values remained stable. Statistically significant decreases in AKf (p=0.04) and the thinnest point of the cornea (p=0.001) and a statistically significant increase in AKb (p=0.01) were observed. A correlation analysis revealed that the preoperative BCVA, UCVA, K1, K2, avgK, AKf, and AKb values significantly affected visual acuity at the 6-month follow-up. Conclusions: Accelerated CXL is an effective treatment for the prevention or even reversal of keratoconus progression. The preoperative K values and apexes of the anterior and posterior cornea were found to affect visual acuity at 6 months after accelerated CXL. Both AKb steepening and AKf flattening appear to be important factors in the stabilization of keratometric values and improvement of visual outcomes.

RESUMO Objetivo: O objetivo do estudo é relatar os resultados do sexto mês após o tratamento de crosslinking acelerado (CXL) em pacientes com ceratocone progressivo e determinar os fatores que afetam a melhora da acuidade após o tratamento. Métodos: Neste estudo retrospectivo, foram incluídos 35 olhos de 34 pacientes com ceratocone progressivo que se submeteram CXL. Acuidade visual não corrigida (UCVA) e melhor acuidade visual corrigida (BCVA) foram registradas. Medidas topográficas foram obtidas utilizando uma câmara Scheimpflug rotativa no pré-operatório e no 1º, 3º e 6º meses após a cirurgia. Os valores de ceratometria (K) mais plana (K1), K mais curva (K2), médio de K (avgK), astigmatismo topográfico (Cyl), ápice anterior da ceratoscopia (AKf), ápice posterior da ceratoscopia (AKb), índice anterior de simetria (SIf), índice posterior de simetria (SIb) e ponto mais fino da córnea (ThkMin) foram avaliados. Resultados: A média UCVA e BCVA melhoraram, enquanto valores de K ficaram estáveis 6º mês. Houve uma diminuição estatisticamente significativa na AKf e um aumento estatisticamente significativo na AKb (p=0,04, p=0,01, respectivamente). O ponto mais fino da córnea diminuiu significativamente (p=0,001). Na análise de correlações, além da UCVA e BCVA pré-operatórias; valores K1, K2, avgK, AKf e AKb pré-operatórios influenciaram significativamente a acuidade visual no 6º mês de acompanhamento. Conclusões: CXL acelerado é uma forma eficaz de tratamento na prevenção ou no mesmo inversão da progressão do ceratocone. A acuidade visual no 6º mês após CXL acelerado foi afetada a partir dos valores de K e dos ápice anterior e posterior da córnea. Encurvamento do AKb e aplanamento do AKf parecem ser fatores importantes na estabilização dos valores ceratométricos e na melhora da acuidade visual.