Retinal dystrophies and variants in PRPH2 / Distrofias retinianas e variantes em PRPH2

ABSTRACT - This report presents three patients diagnosed with macular dystrophies with variants in PRPH2. Peripherin-2, the protein of this gene, is important in the morphogenesis and stabilization of the photoreceptor outer segment. Peripherin-2 deficiencies cause cellular apoptosis. Moreover, pathogenic variants in PRPH2 are associated with various diseases, such as pattern, butterfly-shaped pattern, central areolar, adult-onset vitelliform macular, and cone-rod dystrophies as well as retinitis pigmentosa, retinitis punctata albescens, Leber congenital amaurosis, fundus flavimaculatus, and Stargardt disease.

RESUMO - Este relato apresenta três pacientes com diagnóstico de distrofias maculares com mutações no PRPH2. Periferina 2, a proteína deste gene, é importante na morfogênese e estabilização do segmento externo dos fotorreceptores. Deficiências de periferina 2 causam apoptose celular. Além disso, variantes patogênicas no PRPH2 estão relacionadas a diferentes doenças, como distrofia padrão, distrofia padrão em asa de borboleta, distrofia central areolar, distrofia viteliforme do adulto, retinose pigmentar, distrofia de cones e bastonetes, retinite punctata albscens, amaurose congênita de Leber, fundus flavimaculatus e doença de Stargardt.

Retinal dystrophies and variants in PRPH2.

This report presents three patients diagnosed with macular dystrophies with variants in PRPH2. Peripherin-2, the protein of this gene, is important in the morphogenesis and stabilization of the photoreceptor outer segment. Peripherin-2 deficiencies cause cellular apoptosis. Moreover, pathogenic variants in PRPH2 are associated with various diseases, such as pattern, butterfly-shaped pattern, central areolar, adult-onset vitelliform macular, and cone-rod dystrophies as well as retinitis pigmentosa, retinitis punctata albescens, Leber congenital amaurosis, fundus flavimaculatus, and Stargardt disease.

Evaluation of retinectomy in the treatment of severe proliferative vitreoretinopathy.

BACKGROUND: To evaluate the postoperative results and efficacy of retinectomy in the treatment of severe proliferative vitreoretinopathy (PVR). METHODS: The study involved 38 individuals with rhegmatogenous retinal detachment initially diagnosed with PVR grade C3 who had undergone pars plana vitrectomy combined with scleral buckle and silicone oil as a tamponade. A standard three-port pars plana vitrectomy was performed, and the extension of performing a retinectomy was decided during the procedure. The patients were followed for a minimum of 6 months after the last surgical procedure. Reoperation, postoperative hypotony and final reattachment rates were evaluated. Statistical analysis was performed with an Exact Fisher's test. RESULTS: The mean preoperative visual acuity was >1.3 logMAR. The postoperative visual acuity improved and ranged from 1.3 to 0.7 logMAR (p < 0.63). The preoperative intraocular pressure was 10.2 mmHg and postoperatively was 11.6 mmHg. Postoperative hypotony was observed in 15.8 % of the cases. The reoperation rate after the first procedure was 63.2 %. A total of 44.7 % of the patients needed a retinectomy greater than 270° for a final anatomical success. The final retinal reattachment rate was 94.7 %. CONCLUSIONS: Retinectomy can be an effective surgical procedure in the treatment of severe PVR, and it may increase the final reattachment rate.

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.

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

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%) 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%) were white, 91 (29.0%) were yellow, 11 (3.7%) were black, and 3 (1.1%) were mulatto. AE were bilateral in all patients; of 631 researched eyes, 348 (55.1%) had brown color AE, in 153 (24.2%) they were gray and in 124 (19.6%) reddish brown. Upon diagnosis, visual acuities measured with the Snellen chart were worse than 20/200 in 40.4% of the eyes. CN absence was proven in 103 (32.5%) patients. The unilateral lesions were present in 112 (35.3%) and bilateral lesions were present in 99 (31.2%). Regarding location, 242 (74.3%) were macular, 45 (13.8%) were extramacular and 38 (11.7%) 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.

[Use of anatomical measures of idiopathic macular hole obtained through optical coherence tomography as a predictive factor in visual results: a pilot study]. / Emprego das medidas anatômicas do buraco macular idiopático obtidas pela tomografia de coerência óptica como fator preditivo nos resultados visuais: um estudo piloto.

PURPOSE: To evaluate the anatomy of idiopathic macular hole (IMH) using Optical Coherence Tomography (OCT) and to construct a prognostic index that can be correlated with the visual outcomes and the anatomical closing. METHODS: Prospective study, in which 22 eyes with IMH had been evaluated through OCT in the daily postoperative period of IMH surgery. The Prognostic of Macular Hole Index (PMHI) was created which was correlated with the anatomical result and the postoperative visual acuity (VA) six months after surgery. RESULTS: Sixteen eyes (72.7%) got anatomical closing at the end of six months of follow-up. On analysis of PMHI, there was significant difference between group 1 (open MH) and group 2 (closed MH) (p=0.0018). The risk for failure of anatomical closing is 11 times greater when the diameter of the internal base is over 600 microm or IPBM is less than 0.6 (p=0.0495). Regarding final VA, it was observed that the IPBM had a significant negative correlation with AV (p=0.001). CONCLUSIONS: IPBM showed to be the best predictor of anatomical closing and postoperative visual acuity among the studied variables. It predicted 41% of the postoperative final visual acuity, leading us to believe that other factors, such as the time of history and the degeneration of photoreceptors in these older BM, can be involved in the visual outcomes.

[Leber's miliary aneurysms associated with vitreomacular traction syndrome: case report]. / Aneurisma miliar de Leber associado à síndrome de tração vítreomacular: relato de caso.

Retinal telangiectasias are idiopathic vascular abnormalities of the retina characterized by irregular dilatation of the retinal vessels, intraretinal and subretinal exudation. The aim of this article is to describe the uncommon association of Leber's miliary aneurysms and vitreomacular traction syndrome in a female patient. The diagnosis was established with angiofluoresceinography and optic coherence tomography. The patient was treated with focal photocoagulation with argon green laser directed to the perimacular aneurysms and pars plana posterior vitrectomy. The visual acuity showed great improvement after a four-month follow-up. The present report supports the importance of optic coherence tomography in cases where the vitreoretinal interface must be evaluated, including vascular pathologies, which allowed us to offer a better treatment to this patient.

Estudo da morfologia macular após a remoção da membrana epirretiniana idiopática utilizando a tomografia de coerência óptica (OCT): um estudo piloto / Study on macular morphology after removal of the idiopathic epiretinal membrane using the optical coherence tomography (OCT): a pilot study

OBJETIVO: Descrever a relação entre os resultados visuais e a morfologia macular através da tomografia de coerência óptica (OCT) em pacientes submetidos à remoção da membrana epirretiniana idiopática. MÉTODOS: Dez olhos de 10 pacientes com diagnóstico de membrana epirretiniana idiopática foram incluídos neste estudo. Todos os olhos foram submetidos à vitrectomia posterior via pars plana pelo mesmo cirurgião, durante o período de fevereiro de 2002 a março de 2004. A acuidade visual corrigida usando a tabela de Snellen, bem como a retinografia, a angiofluoresceinografia, a biomicroscopia de fundo e a tomografia de coerência óptica pré e pós-operatórios foram obtidos de todos os pacientes em todas as visitas. No estudo da tomografia de coerência óptica foram avaliadas três características em cada imagem: presença de depressão foveal, presença de edema macular cistóide e média da espessura central macular. RESULTADOS: A idade média dos pacientes foi de 63,3 anos (57 a 78). Cinco pacientes eram do sexo masculino e 5, do sexo feminino. A acuidade visual pré-operatória variou de 20/80 a conta dedos a 1 metro. A acuidade visual melhorou pelo menos duas linhas de visão em 8 olhos (80 por cento) e a metamorfopsia melhorou também na mesma proporção (80 por cento). Quatro pacientes não apresentavam metamorfopsia com a tabela de Amsler, e os demais apresentavam melhora parcial. À tomografia de coerência óptica todos os olhos mantiveram o aumento da espessura central, variando de 232 a 605 µ (média= 351,9 µ). Três olhos mantiveram o edema macular cistóide. Quatro olhos apresentaram acuidade visual final melhor ou igual a 20/30. Neste grupo a média de espessura central foi de 277 µ (265 a 285 µ). A recuperação do contorno foveal foi observada em dois destes olhos. Nos quatro pacientes não havia edema macular cistóide residual. CONCLUSÃO: A tomografia de coerência óptica é uma ferramenta capaz de avaliar as alterações estruturais antes e depois da cirurgia...

PURPOSE: To describe the relation between visual results and macular morphology through optical coherence tomography (OCT) in patients submitted to removal of the idiopathic epiretinal membranes. METHODS: Ten eyes of ten patients with diagnosis of idiopathic epiretinal membranes underwent standard 20-G pars plana vitrectomy. Posterior hyaloid attachments were identified and dealt with. Idiopathic epiretinal membranes were removed in all cases. Corrected visual acuity, retinography, fluorescein angiography, fundus biomicroscopy and the optical coherence tomography in the pre- and postoperative periods were performed in all patients. In OCT, three characteristics were considered in each image: presence of foveal depression, presence of cystoid macular edema and mean central macular thickness. RESULTS: Pre-operative visual acuity varied from 20/80 to counting fingers. The mean age was 63 years, ranging from 57 to 78 years. Five patients were male and five female. Preoperative visual acuity (VA) varied from 20/80 to CD to 1 meter. An improvement in VA of at least two lines was noted in all cases and metamorphopsia in eight eyes (80 percent). Four patients did not present metamorphopsia according to Amsler grid test, and the remaining presented partial improvement. On optical coherence tomography all eyes maintained increased central thickness, ranging from 232 to 605 µ (mean of 351.9 µ). Three eyes maintained cystoid macular edema. Four eyes presented final VA better or equal to 20/30. In this group the mean central thickness was of 277 µ. Foveal contour was recovered in two of these eyes. Four patients had no residual cystoid macular edema. CONCLUSIONS: Optical coherence tomography is a tool that evaluates the structural changes before and after surgery to remove idiopathic epiretinal membranes. Although the foveal area architecture stays irregular six months after surgery, the visual outcomes are very promising. Other prognostics factors...

Emprego das medidas anatômicas do buraco macular idiopático obtidas pela tomografia de coerência óptica como fator preditivo nos resultados visuais: um estudo piloto / Use of anatomical measures of idiopathic macular hole obtained through optical coherence tomography as a predictive factor in visual results: a pilot study

OBJETIVO: Avaliar a anatomia do buraco macular idiopático (BMI) a partir da tomografia de coerência óptica (OCT) e construir índice prognóstico que possa ser correlacionado com os resultados visuais e o fechamento anatômico. MÉTODOS: Estudo prospectivo, no qual 22 olhos com BMI foram avaliados pelo OCT no pré-operatório da cirurgia do BMI. Foi criado o índice prognóstico do buraco macular (IPBM) que foi correlacionado com o resultado anatômico e a acuidade visual pós-operatória seis meses após a cirurgia. RESULTADOS: Dezesseis olhos (72,7 por cento) obtiveram fechamento anatômico ao final de seis meses de acompanhamento. Na análise do IPBM, houve diferença significativa entre o grupo 1 (BM aberto) e o grupo 2 (BM fechado) (p=0,0018). O risco de insucesso para o fechamento anatômico é 11 vezes maior quando o diâmetro da base interna for superior a 600 µm ou o IPBM for inferior a 0,6 (p=0,0495). No que diz respeito à AV final, observou-se que o IPBM tem correlação negativa significante na AV (p=0,001). CONCLUSÃO: O IPBM se apresentou como o melhor preditor de fechamento anatômico e acuidade visual pós-operatória entre as variáveis aqui estudadas. Responde por 41 por cento da acuidade visual pós-operatória final, nos levando a crer que outros fatores, como o tempo de história e a degeneração dos fotorreceptores nestes BM mais antigos, possam estar envolvidos nos resultados visuais.

PURPOSE: To evaluate the anatomy of idiopathic macular hole (IMH) using Optical Coherence Tomography (OCT) and to construct a prognostic index that can be correlated with the visual outcomes and the anatomical closing. METHODS: Prospective study, in which 22 eyes with IMH had been evaluated through OCT in the daily postoperative period of IMH surgery. The Prognostic of Macular Hole Index (PMHI) was created which was correlated with the anatomical result and the postoperative visual acuity (VA) six months after surgery. RESULTS: Sixteen eyes (72.7 percent) got anatomical closing at the end of six months of follow-up. On analysis of PMHI, there was significant difference between group 1 (open MH) and group 2 (closed MH) (p=0.0018). The risk for failure of anatomical closing is 11 times greater when the diameter of the internal base is over 600 µm or IPBM is less than 0.6 (p=0.0495). Regarding final VA, it was observed that the IPBM had a significant negative correlation with AV (p=0.001). CONCLUSIONS: IPBM showed to be the best predictor of anatomical closing and postoperative visual acuity among the studied variables. It predicted 41 percent of the postoperative final visual acuity, leading us to believe that other factors, such as the time of history and the degeneration of photoreceptors in these older BM, can be involved in the visual outcomes.

Aneurisma miliar de Leber associado à síndrome de tração vítreomacular: relato de caso / Leber's miliary aneurysms associated with vitreomacular traction syndrome: case report

Telangiectasias retinianas são anormalidades vasculares primárias e idiopáticas caracterizadas por dilatações irregulares e incompetência dos vasos retinianos com variados graus de exsudação intra e sub-retiniana. O objetivo desse relato é documentar uma rara associação entre aneurisma miliar de Leber e síndrome de tração vítreomacular bem caracterizada à angiofluoresceinografia e tomografia de coerência óptica. O tratamento realizado foi fotocoagulação com laser de argônio nos aneurismas perimaculares e cirurgia de vitrectomia posterior via pars plana, o que resultou em melhora consistente da acuidade visual. O caso relatado confirma a importância da tomografia de coerência óptica em estudar a interface vítreorretiniana e suas alterações, o que permitiu abordagem completa da doença em questão.

Retinal telangiectasias are idiopatic vascular abnormalities of the retina characterizad by irregular dilatation of the retinal vessels, intraretinal and subretinal exsudation. The aim of this article is to describe the uncommon association of Leber's miliary aneurysms and vitreomacular traction syndrome in a female patient. The diagnosis was established with angiofluoresceinography and optic coherence tomography. The patient was treated with focal photocoagulation with argon green laser directed to the perimacular aneurysms and pars plana posterior vitrectomy. The visual acuity showed great improvement after a four-month follow-up. The present report supports the importance of optic coherence tomography in cases where the vitreoretinal interface must be evaluated, including vascular pathologies, which allowed us to offer a better treatment to this patient.

[Study on macular morphology after removal of the idiopathic epiretinal membrane using the optical coherence tomography (OCT): a pilot study]. / Estudo da morfologia macular após a remoção da membrana epirretiniana idiopática utilizando a tomografia de coerência óptica (OCT): um estudo piloto.

PURPOSE: To describe the relation between visual results and macular morphology through optical coherence tomography (OCT) in patients submitted to removal of the idiopathic epiretinal membranes. METHODS: Ten eyes of ten patients with diagnosis of idiopathic epiretinal membranes underwent standard 20-G pars plana vitrectomy. Posterior hyaloid attachments were identified and dealt with. Idiopathic epiretinal membranes were removed in all cases. Corrected visual acuity, retinography, fluorescein angiography, fundus biomicroscopy and the optical coherence tomography in the pre- and postoperative periods were performed in all patients. In OCT, three characteristics were considered in each image: presence of foveal depression, presence of cystoid macular edema and mean central macular thickness. RESULTS: Pre-operative visual acuity varied from 20/80 to counting fingers. The mean age was 63 years, ranging from 57 to 78 years. Five patients were male and five female. Preoperative visual acuity (VA) varied from 20/80 to CD to 1 meter. An improvement in VA of at least two lines was noted in all cases and metamorphopsia in eight eyes (80%). Four patients did not present metamorphopsia according to Amsler grid test, and the remaining presented partial improvement. On optical coherence tomography all eyes maintained increased central thickness, ranging from 232 to 605 micro (mean of 351.9 micro). Three eyes maintained cystoid macular edema. Four eyes presented final VA better or equal to 20/30. In this group the mean central thickness was of 277 micro. Foveal contour was recovered in two of these eyes. Four patients had no residual cystoid macular edema. CONCLUSIONS: Optical coherence tomography is a tool that evaluates the structural changes before and after surgery to remove idiopathic epiretinal membranes. Although the foveal area architecture stays irregular six months after surgery, the visual outcomes are very promising. Other prognostics factors may be involved in the final visual results of this pathology.

[Variation of visual acuity in young patients with ectopia lentis submitted to surgery]. / Variação da acuidade visual em pacientes jovens com ectopia lentis submetidos à cirurgia.

PURPOSE: To assess the results as to visual acuity of two different surgical procedures for ectopia lentis. METHODS: Fifty-one eyes of 28 patients (16 males and 12 females, mean age 16.00 +/- 8.5) with simple (19 cases) or Marfan syndrome-associated (9 cases) ectopia lentis with different levels of subluxation underwent lens extraction with implantation of intraocular lenses (IOL) with scleral fixation (21 cases) or by lens extraction with implantation of the intraocular lenses in the capsular bag expanded by endocapsular ring (RING) (30 cases). Result analysis emphasized pre- and postoperative visual acuity during a six-month follow-up. RESULTS: Both techniques showed significant increase of postoperative visual acuity with and without correction, but it was better among the cases operated on by scleral fixation of the intraocular lenses. More than the used technique, the preoperative subluxation grades were crucial as to the results. CONCLUSION: The two surgical techniques for correction of simple or Marfan syndrome-associated ectopia lentis are safe and effective, resulting in significant recovery of visual acuity, although surgical results are completely dependent on the preoperative lens subluxation grades.

Variação da acuidade visual em pacientes jovens com ectopia lentis submetidos à cirurgia / Variation of visual acuity in young patients with ectopia lentis submitted to surgery

OBJETIVOS:Avaliar os resultados quanto à acuidade visual, de dois procedimentos cirúrgicos para a ectopia lentis. MÉTODOS: Foram operados 51 olhos de 28 pacientes (16 do sexo masculino e 12 do feminino, com média de idade de 16,00±8,5 anos) com ectopia lentis simples (19 casos), ou associada à síndrome de Marfan (nove casos), com diferentes graus de subluxação cristaliniana. Em 21 casos a técnica empregada foi a facectomia com implante de lente intra-ocular (LIO) por fixação escleral e em 30 casos foi utilizada a facectomia com implante da lente intra-ocular no saco capsular, previamente expandido por anel endocapsular (ANEL). Os resultados enfatizaram a acuidade visual pré e pós-operatória em seguimento de seis meses. RESULTADOS:Em ambas as técnicas, a acuidade visual pós-operatória sem e com correção teve aumento significante, que foi maior nos casos operados com fixação escleral da lente intra-ocular. Mais do que a técnica empregada, os graus de subluxação pré-operatórios foram determinantes para os resultados. CONCLUSÕES: Mediante as técnicas operatórias apresentadas, a correção cirúrgica da ectopia lentis simples ou associada à síndrome de Marfan é segura e eficaz, com recuperação significante da acuidade visual, embora os resultados operatórios dependam, intrinsecamente, dos graus pré-operatórios de subluxação do cristalino.

Síndrome da fibrose sub-retiniana difusa: relato de três casos / Diffuse subretinal fibrosis syndrome: report of three cases

Os autores descrevem três casos de uma entidade rara, a síndrome da fibrose sub-retiniana difusa. Relatam as características clínicas da doença, os achados fundoscópicos e os resultados após a terapia com corticosteróides. Analisam ainda os diagnósticos diferenciais entre as doenças que compõem a síndrome dos pontos brancos por meio de revisão da literatura. Como conclusão, ressaltam a importância do diagnóstico e tratamento precoce da síndrome da fibrose sub-retiniana difusa no intuito de prevenir o acometimento do olho contralateral.

Telangiectasia retiniana justafoveolar idiopática do grupo 2A: hiperpigmentaçäo macular incomum e dois pacientes / Idiopathic juxtafoveolar retinal telangiectasis of group 2A: macular hyperpigmentation in two patients

Introduçäo: Telangiectasias retinianas justafoveolares idiopáticas (TJI) do grupo 2A ocorrem na 5a ou 6-4 década de vida, em ambos os sexos. A diminuiçäo da visäo está associada a alteraçöes características na mácula que incluem depósitos de pigmento. Objetivo: Descrever dois pacientes com achados incomuns de pigmentaçäo macular. Método: Relato de caso e discussäo. Resultados: Observaçäo de grandes placas de pigmento na mácula de dois pacientes. Nos dois casos houve confusäo diagnóstica com coriorretinite macular cicatrizada. Em um caso demonstrou-se o aumento da quantidade de pigmento em um período de oito anos. Conclusäo: A TJI do grupo 2A pode ser de diagnóstico difícil. A suspeita clínica deve ser feita pelo aspecto característico das placas de pigmento na mácula.

Síndrome de Chandler: relato de caso / Chandler's syndrome: case report

Neste trabalho, os autores relatam dois casos de síndrome de Chandler. Foram realizados exames oftalmológicos de rotina além de biomicroscopia ultra-sônica e microscopia especular para complementar o diagnóstico. Säo discutido a fisiopatologia e o tratamento da doença

Telangiectasias retinianas justafoveolares idiopáticas: padräo clínico e fundoscópico em 19 casos / Idiopathic juxtafoveal retinal telangiectasis: clinic and fundoscopic pattern in 19 cases

A telangiectasia justafoveolar idiopática (TJI) é uma vasculopatia retiniana da idade adulta, pode causar baixa acuidade visual e ser de difícil diagnóstico. Estudou-se os prontuários de 19 pacientes com TJI usando-se a classificaçäo de GASS & BLODI. Observou-se 8 pacientes no grupo 1 (42 p/c), 11 no grupo 2 (58 p/c) e nenhum no grupo 3. Todos os do grupo 1 apresentaram doença unilateral, com as telangiectasias facilmente visíveis, depósitos lipídicos e edema cistóide de mácula. A idade média foi de 55,8 anos, com cinco pacientes do sexo masculino (63 p/c) e três do feminino (37 p/c). Todos os do grupo 2 tinham doença bilateral com telangiectasias evidenciadas apenas à angiofluoresceinografia. A idade média foi de 54,5 anos, com dois