Angioid streaks and optic disc drusen in cherubism: a case report / Estrias angióides e drusas de disco óptico no Querubismo: um relato de caso

ABSTRACT A 65-year-old female patient was referred to our hospital for evaluation for cataract surgery. Her past medical history included corrective jaw surgeries for facial deformities that developed during infancy and persisted through early adulthood. A complete ophthalmological examination revealed bilateral angioid streaks, drusen in both optic disc areas, and a subretinal neovascular membrane in the left macula. Genetic analysis revealed a mutation in the SH3BP2 gene compatible with the diagnosis of cherubism. Clinical and laboratory evaluation revealed no additional systemic disorders. Cherubism is a rare disease characterized by the development of painless fibro-osseous lesions in the jaws and the maxilla in early childhood. Ophthalmologic findings in this disease are primarily related to orbital bone involvement. This is the first report of AS and optic disc drusen in a patient diagnosed with cherubism. Our findings suggest that angioid streaks and optic disk drusen should be included in the differential diagnosis of ophthalmic disorders identified in patients with this genetic abnormality.

RESUMO Paciente de 65 anos, sexo feminino, foi encaminhada para avaliação de cirurgia de catarata. Relatou história de cirurgias mandibulares para correção de deformação facial desenvolvida ao longo da infância e adolescência. O exame oftalmológico completo mostrou estrias angióides bilaterais, drusas em ambas as áreas dos discos ópticos e membrana neovascular sub-retiniana na mácula esquerda. A análise genética revelou mutação no gene SH3BP2 compatível com o diagnóstico de Querubismo. A avaliação clínica e laboratorial descartou outros distúrbios sistêmicos. O Querubismo é uma doença óssea rara caracterizada pelo desenvolvimento de lesões fibro-ósseas indolores na mandíbula e maxila durante a primeira infância. Os achados oftalmológicos nesta doença estão principalmente relacionados ao envolvimento ósseo orbitário. Este artigo descreve pela primeira vez a ocorrência de estrias angióides e drusas de disco óptico no Querubismo. Enfatizamos que essa condição deve ser incluída no diferencial de pacientes com tais achados, principalmente quando ambos existirem em associação.

Pseudoxantoma elástico / Pseudoxanthoma elastic

Resumo O pseudoxantoma elástico é uma doença generalizada do tecido conjuntivo envolvendo a pele, olhos e sistema cardiovascular desencadeando a fragmentação e calcificação das fibras elásticas. Geralmente ocorre após a puberdade, as manifestações características são manchas pequenas, circunscritas, amareladas, localizadas no pescoço, axila e pregas inguinais. Estrias angioides na retina, tendência à hemorragia e insuficiência arterial são as complicações mais comuns. Esta doença pode ser herdada como autossômica dominante ou recessiva. O tratamento das manifestações oculares convencional é através da fototerapia a laser impedindo a ocorrência de hemorragias locais. Entretanto, novas abordagens terapêuticas estão sendo desenvolvidas como a utilização em longo prazo de drogas antiangiogênicas, as quais atuam inibindo a neovascularização ocular. Apesar de não ter ainda efetivamente substituído o tratamento original, pesquisas recentes já evidenciam benefícios da nova técnica. O objetivo deste estudo é relatar sobre o caso de uma paciente de 37 anos, portadora do pseudoxantoma elástico, com estrias angioides e hemorragia ocular, e o tratamento eficaz com a terapia antiangiogênica no ambulatório de oftalmologia em Nova Iguaçu, Rio de Janeiro.

Abstract The pseudoxanthoma elasticum is a generalized disease of the connective tissue involving the skin, eyes and cardiovascular system triggering the fragmentation and calcification of elastic fibers. Usually occurs after puberty, the manifestations characteristics are small spots, circumscribed, yellowish, located on the neck, axilla and inguinal folds. Angioid streaks in the retina, tendency to hemorrhage and arterial insufficiency are the most common complications. This disease can be inherited as autosomal dominant or recessive. The treatment of ocular manifestations is through the conventional phototherapy laser preventing the occurrence of local hemorrhages. However, new therapeutic approaches are being developed as the long-term use of drugs antiangiogenic, which act by inhibiting the ocular neovascularization. Despite not having yet effectively replaced the original treatment, recent research already show benefits of new technique. The objective of this study is to report on a case of a patient of 37 years, the carrier of the Pseudoxanthoma Elasticum, with angioid streaks and ocular hemorrhage, and the effective treatment with antiangiogenic therapy at the clinic of Ophthalmology in Nova Iguaçu, Rio de Janeiro.

Silent polypoidal choroidal vasculopathy in a patient with angioid streaks / Vasculopatia polipoidal de coróide quiescente em um paciente com estrias angióides

ABSTRACT We present a case of silent polypoidal choroidal vasculopathy (PCV) in a patient with angioid streaks. PCV was detected during a routine ophthalmic examination and confirmed by fluorescein angiography, indocyanine green angiography, and optical coherence tomography. After 2 years of follow-up, the PCV remained silent without any complications. We report this rare coexistence and review literature on this topic.

RESUMO Nós apresentamos um relato de vasculopatia polipoidal de coroide (PCV) em paciente com estrias angióides. Vasculopatia polipoidal de coroide detectada em exame oftalmológico de rotina e confirmado por angiofluoresceinografia, angiografia com indocianina verde e tomografia de coerência óptica. Após 2 anos de seguimento a vasculopatia polipoidal de coroide permaneceu quiescente, sem qualquer complicação. Nós relatamos esta coexistência rara e apresentamos revisão da literatura.

Drastic effect of ranibizumab on choroidal neovascularization in idiopathic angioid streaks / Efeito dramático do ranibizumabe na neovascularização de coroide em estrias angióides idiopáticas

ABSTRACTA 28-year-old man presented with bilateral vision loss. His best-corrected visual acuity (BCVA) was 0.3 in the right eye (OD) and 0.6 in the left eye (OS). Fundoscopy and fluorescein angiography showed angioid streaks encircling the optic discs of both eyes (OU). Spectral Domain Optical Coherence Tomography (SD-OCT) showed bilateral macular serous detachment. Systemic and ocular screening tests showed no specific cause for the angioid streaks. The patient had previously received pegaptanib sodium injection on three occasions, photodynamic therapy in OS, and no treatment in OD. Upon intravitreal injection of ranibizumab (twice in OU), subretinal fluid was nearly eliminated in OU. BCVA increased to 0.6 in OD and 0.9 in OS, and remained improved until 6 months after treatment.

RESUMOUm homem de 28 anos apresentou-se com perda de visão bilateral. A melhor acuidade visual corrigida (BCVA) era 0,3 no olho direito (OD) e 0,6 no olho esquerdo (OS). A fundoscopia e a angiofluoresceinografia demonstraram estrias angióides ao redor dos discos ópticos em ambos os olhos (OU). A tomografia de coerência óptica de domínio espectral (SD-OCT) demonstrou descolamento seroso macular bilateral. Testes de triagem sistêmicas e oculares não mostraram causa específica para estrias angióides. O paciente tinha um historia de três tratamentos com injeção de pegaptanibe sódico e terapia fotodinâmica em OS e nenhum tratamento em OD. Após a injeção intravítrea de ranibizumabe (duas vezes em OU), fluido sub-retiniano quase desapareceu em OU. BCVA melhorou para 0,6 em OD e 0,9 em OS e não se alterou até o sexto mês de tratamento.

Estrías angioides y tumor hipofisario: ¿asociación o hallazgo incidental? / Angioid streaks and pituitary tumor: ¿association or incidental finding?

Las estrias angioides de la retina se aprecian como líneas dentelladas rosadas u oscuras radiando irregularmente en todas direcciones desde el área peripapilar hacia la periferia de la retina. Corresponden a roturas del componente elástico de la membrana de Bruch. Su presencia indica una enfermedad sistémica siendo las más importantes el pseudoxantoma elástico, la enfermedad de Paget ósea y la drepanocitosis, Los tumores hipofisiarios raramente se han asociado a está condición existiendo apenas tres descriptores en la literatura. A estas adicionamos tres pacientes más, no obstante, aun no puede asegurarse si se trata de una asociación o de un simple hallazgo incidental.

Retinal angioid streaks can be seen as rough lines pink or dark, irregularly radiating in all directions from the peripapilar area to the periphery of the retina. They correspond of breaks in the elastic component of the Bruch membrane. Its presence indicates a systemic disease being the most important pseudoxanthoma elasticum, bone Paget's disease and sickle cell disease. Pituitary tumors have rarely been associated with this condition and exist just three descriptions in the literature. To these we add three more patients, however, still not be tightened if it's an association or a simple incidental finding.

Bilateral choroidal neovascularization response to unilateral intravitreal Ranibizumab injection in a patient with angioid streaks / Resposta de neovascularização bilateral de coróide à injeção unilateral de Ranibizumabe intravítreo de paciente com estrias angióides

Report of a 48 year-old male with bilateral decrease in vision due to choroidal neovascularization secondary to angioid streaks. Best corrected visual acuity was 20/80 in the right eye and counting fingers at 2 meters on the left eye. Patient underwent intravitreal injection of Ranibizumab (Lucentis) in the eye with worse visual acuity. Fifteen days after treatment patient reported better visual acuity on the fellow eye, which was measured to be 20/25. Treatment result was evaluated with visual acuity and optical coherence tomography. The effect of ranibizumab was observed in the treated eye, but the fellow eye had complete resolution of the choroidal neovascularization complex. This result may be a response to systemic absorption of the medication.

Os autores descrevem paciente do sexo masculino, 48 anos, com diminuição visual bilateral há 15 dias por membrana neovascular sub-retiniana secundária a estrias angióides. A acuidade visual com melhor correção no olho direito era 20/80 e no olho esquerdo de conta dedos a 2 metros. Submetido à injeção intravítrea de Ranibizumabe (Lucentis) no olho com pior acuidade visual. Após 15 dias do tratamento, referiu melhora acentuada da visão no olho contralateral com visão de 20/25. O resultado foi avaliado por meio da acuidade visual e da tomografia de coerência óptica. O efeito do ranibizumabe foi observado no olho tratado, mas no olho contralateral houve completa resolução do complexo da membrana neovascular sub-retiniana. Levanta-se a hipótese de que esse resultado possa ser atribuído à absorção sistêmica da medicação.

Combination treatment of low fluence photodynamic therapy and intravitreal ranibizumab for choroidal neovascular membrane secondary to angioid streaks in Paget's disease – 12 month results.

Angioid streaks also called Knapp striae are small breaks in the Bruch's membrane and have been reported with a host of systemic diseases. Rupture of streaks or development of secondary choroidal neovascular membrane (CNVM) carries a dismal visual prognosis. We report the successful treatment of CNVM secondary to Paget's disease using low fluence photodynamic therapy (PDT) and intravitreal ranibizumab.

A Case of Intravitreal Bevacizumab Injection for the Treatment of Choroidal Neovascularization in Angioid Streaks

A 56-year-old Korean woman presented with decreased visual acuity of the right eye. She had a history of two photodynamic therapy treatments for choroidal neovascularization (CNV) due to angioid streaks in her left eye with central scarring and low visual acuity. She was diagnosed with subfoveal CNV due to angioid streaks in her right eye and treated with six intravitreal bevacizumab (1.25 mg / 0.05 mL) injections over one year. Best corrected visual acuity improved from 20 / 125 at baseline to 20 / 50 at the final visit. The area of CNV had changed into a fibrotic scar by the final visit, and fluorescein angiography and indocyanine green angiography revealed no evidence of leakage. Optical coherence tomography showed that central macular thickness decreased from 311 microm at baseline to 203 microm with complete resolution of subretinal and intraretinal fluid at the final visit. Intravitreal bevacizumab for CNV associated with angioid streaks prevented the progression of disease and resulted in the improvement of visual acuity after one year of follow-up in our patient.

Periumbilical Perforating Pseudoxanthoma Elasticum in a Young Male Patient / 대한피부과학회지

Periumbilical perforating pseudoxanthoma elasticum is a rare acquired disorder of connective tissue. It has been suggested that repeated traumas of pregnancy, obesity, or abdominal surgery promote localized degeneration of elastic fibers. Most cases reported in the English literature occurred in obese, middle aged, multiparous women. We describe a 29-year-old male who had two hyperpigmented plaques on the periumbilical area. He had angioid streaks, but was not obese and did not have hypertension. A skin biopsy revealed transepidermal elimination of degenerated and calcified elastic fibers, which was consistent with periumbilical perforating pseudoxanthoma elasticum. We report an interesting case of periumbilical perforating pseudoxanthoma elasticum that occurred in a young man with no known predisposing risk factors.

Estrias angióides: análise fundoscópica de 317 casos / Angioid streaks: fundoscopic analysis of 317 cases

OBJETIVO: Avaliar a presença de neovascularização de coróide (NVC) e suas seqüelas em pacientes portadores de estrias angióides (EA). MÉTODOS: Foram analisados retrospectivamente os prontuários de pacientes atendidos no Instituto Suel Abujamra, São Paulo (SP), Brasil, de 1976 a 2006. Considerou-se a idade, cor da pele, queixas na primeira consulta, acuidade visual e aspecto fundoscópico com especial atenção a lesões disciformes por NVC sub-retinianas ativas ou cicatrizadas. RESULTADOS: Dos 317 pacientes estudados, 163 (51,5 por cento) eram homens. A média de idade era de 57 anos com desvio-padrão de 12,4 anos, mínimo de 11 e máximo de 91 anos. Quanto a cor da pele, 209 (66,2 por cento) eram brancos, 91 (29,0 por cento) amarelos,11 (3,7 por cento) negros, e 3 (1,1 por cento) pardos. As EA eram bilaterais em todos os pacientes, e de 631 olhos pesquisados, 348 (55,1 por cento) tinham EA de coloração marrom, 153 (24,2 por cento) cinza e 124 (19,6 por cento) marrom-avermelhada. No momento do diagnóstico, as acuidades visuais medidas na tabela de Snellen foram piores que 20/200 em 40,4 por cento dos olhos. Comprovou-se a ausência de NVC em 103 (32,5 por cento) pacientes. As lesões NVC unilaterais estavam presentes em 112 (35,3 por cento) e bilaterais em 99 (31,2 por cento). Quanto à localização, 242 (74,3 por cento) eram maculares, 45 (13,8 por cento) extra-maculares e 38 (11,7 por cento) mistas. CONCLUSÃO: As EA são importante causa de cegueira legal e podem passar despercebidas no exame oftalmológico de rotina quando não apresentam lesões maculares disciformes ativas ou cicatrizadas. A importância deste estudo é o expressivo número de casos e alertar os oftalmologistas quanto à necessidade de um exame fundoscópico minucioso, a fim de monitorá-las, diagnosticar e tratar precocemente a NVC.

PURPOSE: To evaluate the presence of choroidal neovascularization (CN) and their sequels in patient bearing angioid streaks (AE). METHODS: Case records of patients assisted from 1976 to 2006 at the Instituto Suel Abujamra located in the city of São Paulo, Brazil, were analyzed retrospectively. Age, skin color; patient complaints at the first evaluation, visual acuity, fundoscopic aspects with special attention to disciform lesions to active or scarred subretinal CN were considered. RESULTS: Among the 317 studied patients, 163 (51.5 percent) were men. The average age was 57, with standard deviation of 12.4 years, minimum 11 and maximum 91 years. Regarding skin color, 209 (66.2 percent) were white, 91 (29.0 percent) were yellow, 11 (3.7 percent) were black, and 3 (1.1 percent) were mulatto. AE were bilateral in all patients; of 631 researched eyes, 348 (55.1 percent) had brown color AE, in 153 (24.2 percent) they were gray and in 124 (19.6 percent) reddish brown. Upon diagnosis, visual acuities measured with the Snellen chart were worse than 20/200 in 40.4 percent of the eyes. CN absence was proven in 103 (32.5 percent) patients. The unilateral lesions were present in 112 (35.3 percent) and bilateral lesions were present in 99 (31.2 percent). Regarding location, 242 (74.3 percent) were macular, 45 (13.8 percent) were extramacular and 38 (11.7 percent) were both macular and extramacular. CONCLUSION: AE are an important cause of legal blindness and can be easily bypassed in an ophthalmic routine examination in the absence of active or disciform neovascular lesions. The expressive number of these cases brings us to the importance of this study. It highlights the need for a meticulous fundoscopic examination in order to improve diagnoses of the disease and early treatment of CN.

Indocyanine green-mediated photothrombosis for choroidal neovascularization in angioid streaks / Fototrombose mediada por indocianina verde para o tratamento de neovascularização de coróide em estrias angióides

PURPOSE: To investigate the effect of indocyanine green-mediated photothrombosis on choroidal neovascularization secondary to angioid streaks. METHODS: Six eyes of 5 patients with an average age of 70 years were diagnosed to have subfoveal choroidal neovascularization secondary to angioid streaks. Therapy was indicated if choroidal neovascularization was considered to be active, according to evidence of fluorescein leakage on angiograms, as well as presence of intra- or subretinal fluid on optical coherence tomography. Patients received photothrombosis at baseline with retreatment as necessary at 3, 6 and 9 months follow-up. Fluorescein leakage was assessed at 3, 6 and 9 months, along with foveal thickness measured by optical coherence tomography. Indocyanine green angiography was performed initially and whenever retreatment was considered. Retreatment was performed whenever there was evidence of increased leakage on fluorescein angiograms at follow-up visits. RESULTS: The mean follow-up was 13.3 months. All eyes had at least 12 months follow-up. Two eyes underwent retreatment. Three eyes had visual acuity improvement and three eyes had stabilization. All patients showed less fluorescein leakage on final angiograms and reduced foveal thickness upon optical coherence tomography measurement. CONCLUSION: Photothrombosis is a feasible procedure for choroidal neovascularization secondary to angioid streaks. Lesion analysis showed anatomical improvement in most cases in this series. Further studies are warranted to evaluate long-term results of this treatment.

OBJETIVO: Investigar os efeitos da fototrombose mediada por indocianina verde sobre a neovascularização de coróide secundária a estrias angióides. MÉTODOS: Seis olhos de 5 pacientes com média de 70 anos de idade tinham o diagnóstico de neovascularização de coróide secundária a estrias angióides. O tratamento foi indicado para neovascularização de coróide ativa, avaliada pelo vazamento na angiofluoresceinografia e pela presença de fluido intra ou sub-retiniano pela tomografia de coerência óptica. Os pacientes receberam tratamento inicial com indocianina verde, e a seguir foram re-tratados conforme necessário com 3, 6 e 9 meses. Nessas ocasiões avaliava-se o vazamento e a espessura foveal. A angiografia com indocianina verde foi realizada inicialmente e sempre que o re-tratamento era considerado, nos casos em que havia aumento de vazamento pela angiofluoresceinografia nas visitas de seguimento. RESULTADOS: O tempo médio de seguimento foi de 13,3 meses. Todos os olhos atingiram um seguimento de pelo menos 12 meses. Dois olhos foram submetidos a re-tratamento. Três olhos apresentaram melhora e três olhos apresentaram estabilização da acuidade visual. Todos os pacientes apresentaram diminuição final do vazamento e da espessura foveal. CONCLUSÃO: Indocianina verde é procedimento factível para o tratamento de neovascularização de coróide secundária a estrias angióides. A análise das lesões mostrou melhora anatômica na maioria dos casos desta série. Mais estudos são necessários para avaliar os resultados a longo prazo deste tratamento.

Pseudoxantoma elástico: reporte de un caso / Pseudoxanthoma elasticum: a case report

El pseudoxantoma elástico es un raro desorden caracterizado por degeneración de las fibras elásticas, con áreas de calcificación en la piel, la retina y el sistema cardiovascular.1 Esta enfermedad tiene dos tipos de transmisión hereditaria.2 3 4 Reportamos el caso de una mujer de 35 años, quien presenta pápulas amarillentas en el cuello y los miembros superiores. En el examen histopatológico se observa un cuadro sugestivo de pseudoxantoma elástico: fragmentación de las fibras elásticas y depósitos calcáreos en la dermis reticular.

Estudo dos sinais anatômicos em íris humana comfinalidade de pintura da íris em prótese ocular / Study of the anatomical signs in human iris with the finality of the painting iris in the ocular prosthetics

Foi realizado um estudo dos sinais anatômicos presentes em ambas as íris do globo ocular de 112 indivíduos, escolhidos aleatoriamente, por meio de imagens fotográficas digitais. Foram elaboradas tabelas de avaliação dos sinais: lacunas, anéis de tensão, radiis solaris, sulcos radiais, sulcos radiais, manchas, flocos de neve, nuvens e anel de gordura, verificando a freqüência com que os mesmos aparecem nas íris consideradas de cor escura (castanho, castanho claro e castanho escuro), de cor clara (azul, verde e cinza) e de cor média (hazel e âmbar). Os dados obtidos foram processados em análise estatística por meio do teste exato de Fisher e qui-quadrado, com nível de significância de 5%. Os resultados mostraram que: os sinais anatômicos são menos evidentes nas íris de cor escura, sendo que as lacunas e os anéis de tensão foram os mais observados e as nuvens não foram obsevadas; nas íris de cor clara, os sinais mais notados foram as manchas e os flocos de neve e o anel de gordura não foi notado; as íris de cor média foram as que apresentaram maior variedade de sinais, prevalecendo os anéis de tensão e as lacunas, e os menos freqüêntes foram as nuvens e o anel de gordura; o sinal anel de gordura foi observado apenas em indivíduos em idade superior a 50 anos. Por fim verificou-se também que a íris direita e esquerda do mesmo indivíduo são similares, mas não iguais, havendo pequenas alterações na quantidade do mesmo sinal presente em ambas.

Gronblad-Standberg syndrome: a case report and review of literature

Gronblad-Strandberg syndrome is a rare congenital hereditary dysplasic disorder of the connective tissue, characterized by a progressive abnormal mineralization and dystrophic calcification of elastic tissue and collagen. The term Gronblad-Strandberg syndrome is used when angioid streaks in eye occur in association with pseudoxanthoma elasticum [PXE] of skin. We report a young patient having characteristic skin and eye manifestations of the syndrome. He was evaluated thoroughly regarding extent and potential systemic complications of the disease and was counseled accordingly. Since dermatologists are generally not familiar with historical background and ocular findings of the disease, a brief review of these two aspects is also made

A Case of Photodynamic Therapy of Juxtafoveal Choroidal Neovascularization in Angioid Streaks

PURPOSE: To report a case of verteporfin photodynamic therapy (PDT) for juxtafoveal choroidal neovascularization (CNV) secondary to angioid streaks. CASE SUMMARY: An 54-year-old male presented with metamorphopsia of the right eye. It was diagnosed as juxtafoveal CNV secondary to angioid streaks and treated with verteporfin PDT-Best corrected visual acuity (BCVA) and macular thickness by optical coherence tomography (OCT) were measured. Over 14 month follow-up period, baseline BCVA was 0.3 and it increased to 0.4 by the final examination, while macular thickness decreased from 264 micrometer to 229 micrometer. No side effects of PDT were noted. CONCLUSIONS: Verteporfin PDT for CNV-associated with angioid streaks does not appear to significantly alter the course of the disease undergoing enlargement and disciform transformation of the neovascular process. However, we expected that the actual clinical findings improved during short term follow-up. The severity of symptoms of CNV-associated with angioid streaks in a single patient varies over time, so long-term follow-up and careful examination is needed.

Intravitreal bevacizumab (Avastin) in choroidal neovascular membrane in angioid streaks.

Angioid streaks are crack-like dehiscences in the Bruch's membrane, which predispose to the development of a choroidal neovascular membrane (CNVM) that carries a poor visual outcome. We report successful treatment in a 25-year-old woman with bilateral angioid streaks and subfoveal CNVM in the left eye who received two doses of intravitreal bevacizumab (1.25 mg) injections six weeks apart, resulting in rapid regression of the CNVM.