TUBGCP4 - associated microcephaly and chorioretinopathy.

Background Microcephaly and chorioretinopathy (MCCRP) is a rare neuro-ophthalmologic disorder that causes microcephaly and chorioretinopathy. In a recessive inheritance pattern, there are three types: MCCRP1; MCCRP2 and MCCRP3. MCCRP3 results from pathogenic variants in the tubulin-gamma complex-associated protein 4 (TUBGCP4) gene.Materials and Methods This is a case report of a patient with a molecular diagnosis defined by mutations in the TUBGCP4 gene. Segregation analyses were carried out.Results The molecular investigation found two heterozygous variants c.1380 G > A (p.Trp460*) a novel nonsense variant, and c.1746 G > T (p Leu582=) a synonymous variant in TUBGCP4. The clinical phenotype was characterized by microcephaly, microphthalmia, chorioretinopathy, a punched-out retinal appearance, dysmorphic facial features, decreased visual acuity, and learning difficulties. The clinical features were similar to those described previously in children with MCCRP3. The proband also had additional features including centripetal obesity, stretch marks, acanthosis nigricans, scoliosis, and hypercholesterolemia. These other features could be part of a ciliopathy syndrome.Conclusions MCCRP2 caused by pathogenic variants in PLK4 is well established as a ciliopathy disease. The role of TUBGCP4 is not well established in the cilium physiology. MCCRP3 may be part of the ciliopathy spectrum.

Bilateral chorioretinopathy in child-onset systemic lupus erythematosus.

Any of the various layers of the eye may suffer injury in systemic lupus erythematosus, ranging from keratoconjunctivitis sicca to retinopathy and optic neuritis. Rheumatologists must always be aware of ocular involvement in those patients since rapid diagnosis and a prompt intervention in those severe cases can prevent visual loss or even irreversible blindness. We present here the case of a 14-year-old girl who, despite a short period of disease, developed chorioretinopathy with transitory visual impairment with a good treatment response.

Prevalência de cicatrizes coriorretinianas em exames angiográficos / Prevalence of chorioretinal scars in angiographics exams

RESUMO A toxoplasmose é uma zoonose que tem como agente etiológico o Toxoplasma gondii, que se caracteriza por ser uma doença infecciosa de distribuição mundial. Considera-se que no mundo existam mais de 2 bilhões de pessoas infectadas pela toxoplasmose. É bem conhecido que a toxoplasmose é uma causa frequente de cicatriz coriorretiniana. Nesse grupo de doenças, o exame angiográfico (ou angiofluoresceinografia de retina) é de fundamental importância para o diagnóstico. Objetivo: Realizar um levantamento da prevalência de cicatrizes coriorretinianas em angiografias em serviço privado na região de Cascavel (PR), Brasil. Métodos: Realização um estudo retrospectivo, transversal, com levantamento de documentos fonte, onde foram analisados 8719 laudos de angiografias de retina realizadas no Instituto da Visão na cidade de Cascavel (PR), Brasil, entre os anos de 2000 a 2011, sendo selecionados como primeiro diagnóstico de cada paciente, completando um total de 4928 exames válidos. As alterações encontradas foram classificadas de acordo com o tipo de cicatriz visualizada, e divididas conforme frequência percentual. Resultados: Observou-se uma prevalência de cicatrizes de 6,38%, sendo que o percentual de cicatriz coriorretiniana encontrado foi de 6,14%. Conclusão: A baixa prevalência de cicatrizes coriorretinianas encontrada na região de Cascavel (PR), Brasil, quando comparada à de Erechim (RS), Brasil, se deve a diversos fatores, tanto climáticos, socioculturais e institucionais. Além das cicatrizes coriorretinianas, que representaram o maior número entre as cicatrizes, foram encontrados outros subtipos cicatriciais com prevalências menores.

ABSTRACT Toxoplasmosis is a zoonosis whose etiologic agent is Toxoplasma gondii, which is characterized as an infectious disease of worldwide distribution. There are thought to be more than 2 billion people globally infected with toxoplasmosis. It is well known that toxoplasmosis is a frequent cause of chorioretinal scarring. In this group of diseases, the angiographic examination (or retinal fluorescein angiography) is very important for diagnosis. Objective: To perform a survey on the prevalence of chorioretinal scars in angiography at a private clinic in the area of Cascavel, Paraná State, Brazil. Methods: This was a retrospective, cross-sectional study with collection of data from source documents, involving the analysis of 8,719 reports of retinal angiograms performed at the Instituto da Visão of Cascavel, Brazil, between the years 2000-2011. The first diagnosis of each patient was selected, completing a total of 4,928 valid exams. The changes were classified according to the type of visualized scarring, and divided as percentage frequency. Results: We observed a prevalence of 6.38% scars, and the percentage of chorioretinal scars was found to be 6.14%. Conclusion: The low prevalence of chorioretinal scars found in the region of Cascavel, Brazil, when compared with the region of Erechim (Rio Grande do Sul State), Brazil, is due to climatic, sociocultural and institutional factors. Besides the chorioretinal scars, which represent the largest group of scars, other subtypes of scars with lower prevalence were found.

Idiopathic polypoidal choroidal vasculopathy masquerading as choroidal tumors: one year follow-up of a peripheral lesion.

This case report describes peripheral idiopathic polypoidal choroidal vasculopathy (IPCV) with a collection of small aneurysmal dilations that masqueraded as choroidal tumors in an elderly patient. A 68-year-old African American woman was referred to us with a suspected diagnosis of asymptomatic vascular choroidal tumor and choroidal capillary hemangioma, affecting the temporal peripheral fundus. Upon examination, optical coherence tomography (OCT) revealed two large hemorrhagic pigment epithelium detachments (PED), and indocyanine green angiography (ICG) confirmed the diagnosis of IPCV. One year later, there was reduction in the hemorrhagic pigment epithelium detachments and the lesion took on a different appearance, resembling a choroidal osteoma. No treatment was necessary despite the presence of multiple polyps. IPCV is a rare condition that can resemble other choroidal diseases depending on the stage of presentation. OCT is the best tool to determine the characteristics of the lesions, and indocyanine green angiography should be used to confirm the diagnosis. Not all cases require treatment.

Idiopathic polypoidal choroidal vasculopathy masquerading as choroidal tumors: one year follow-up of a peripheral lesion / Vasculopatia polipoidal idiopática da coroide simulando tumores da coroide: um ano de seguimento de uma lesão periférica

ABSTRACT This case report describes peripheral idiopathic polypoidal choroidal vasculopathy (IPCV) with a collection of small aneurysmal dilations that masqueraded as choroidal tumors in an elderly patient. A 68-year-old African American woman was referred to us with a suspected diagnosis of asymptomatic vascular choroidal tumor and choroidal capillary hemangioma, affecting the temporal peripheral fundus. Upon examination, optical coherence tomography (OCT) revealed two large hemorrhagic pigment epithelium detachments (PED), and indocyanine green angiography (ICG) confirmed the diagnosis of IPCV. One year later, there was reduction in the hemorrhagic pigment epithelium detachments and the lesion took on a different appearance, resembling a choroidal osteoma. No treatment was necessary despite the presence of multiple polyps. IPCV is a rare condition that can resemble other choroidal diseases depending on the stage of presentation. OCT is the best tool to determine the characteristics of the lesions, and indocyanine green angiography should be used to confirm the diagnosis. Not all cases require treatment.

RESUMO Relato de um caso de vasculopatia polipoidal idiopática da coroide (IPCV) com múltiplas dilatações aneurismáticas em região temporal periférica da retina, em uma paciente idosa que assemelhou-se com alguns tumores de coroide no seguimento de um ano. Paciente de 68 anos da raça negra, assintomática, foi encaminhada com a hipótese diagnóstica de um tumor vascular de coroide e hemangioma capilar da coroide, em região temporal inferior periférica da retina. Ao exame de tomografia de coerência óptica (OCT) era observado dois grande descolamentos de epitélio pigmentado (DEP), sendo confirmado o diagnóstico de vasculopatia polipoidal idiopática da coroide pela angiografia com indocianina verde (ICG). Após um ano, houve absorção do descolamento do epitélio pigmentado hemorrágico assemelhando-se assim ao osteoma de coroide. Nenhum tratamento foi necessário apesar da quantidade dos pólipos. A vasculopatia polipoidal idiopática da coroide é uma doença rara que, dependendo do estágio da apresentação, pode se assemelhar com algumas doenças da coroide. A tomografia de coerência óptica pode ilustrar melhor as características das lesões e a ICG confirma o diagnóstico. Nem todos os casos necessitam ser tratados.

Transient spectral domain optical coherence tomography findings in classic MEWDS: a case report.

The purpose of this study was to describe a patient with multiple evanescent white dot syndrome (MEWDS) who presented with classic retinal findings and transient changes in outer retinal anatomy. A 20-year-old man presented with mild blurred vision in the left eye, reporting flu-like symptoms 1 week before the visual symptoms started. Fundus examination of the left eye revealed foveal granularity and multiple scattered spots deep to the retina in the posterior pole. Fluorescein angiography and indocyanine green angiography showed typical MEWDS findings. Spectral Domain Optical Coherence Tomography has shown transient changes in outer retinal anatomy with disappearance of inner segment-outer segment junction and mild attenuation of external limiting membrane. Six months later, Spectral Domain Optical Coherence Tomography has shown complete resolution with recovery of normal outer retinal aspect.

Transient spectral domain optical coherence tomography findings in classic MEWDS: a case report / Alterações transitórias evidenciadas na tomografia de coerência óptica de domíno espectral em quadro clássico de MEWDS: relato de caso

The purpose of this study was to describe a patient with multiple evanescent white dot syndrome (MEWDS) who presented with classic retinal findings and transient changes in outer retinal anatomy. A 20-year-old man presented with mild blurred vision in the left eye, reporting flu-like symptoms 1 week before the visual symptoms started. Fundus examination of the left eye revealed foveal granularity and multiple scattered spots deep to the retina in the posterior pole. Fluorescein angiography and indocyanine green angiography showed typical MEWDS findings. Spectral Domain Optical Coherence Tomography has shown transient changes in outer retinal anatomy with disappearance of inner segment-outer segment junction and mild attenuation of external limiting membrane. Six months later, Spectral Domain Optical Coherence Tomography has shown complete resolution with recovery of normal outer retinal aspect.

O propósito deste estudo é descrever o caso de um paciente com síndrome dos múltiplos pontos brancos evanescentes (MEWDS), apresentando achados retinianos clássicos e alterações transitórias na anatomia retiniana externa. Paciente do sexo masculino, 20 anos de idade, apresentando embaçamento visual no olho esquerdo, relatando sintomas gripais uma semana antes do início dos sintomas visuais. Fundoscopia do olho esquerdo revelou granularidade foveal, múltiplos pontos brancos retinianos no polo posterior. A angiografia fluoresceínica e a indocianinografia verde evidenciaram achados típicos de MEWDS. A tomografia de coerência óptica de domínio espectral evidenciou alterações transitórias na anatomia retiniana externa como desaparecimento da junção dos segmentos interno-externo dos fotorreceptores e leve atenuação da membrana limitante externa. Após 6 meses, a tomografia de coerência óptica mostrou completa resolução com recuperação total da anatomia retiniana externa.

Sclerochorioretinal abnormalities in hypercholesterolemic rabbits treated with rosiglitazone.

BACKGROUND AND OBJECTIVE: To evaluate early retinal, choroidal, and scleral abnormalities induced by a hypercholesterolemic diet and the prevention of these abnormalities after oral administration of rosiglitazone in rabbits. MATERIALS AND METHODS: Fifty-four New Zealand rabbits were divided into four study groups: control group, normal diet; group 1, hypercholesterolemic diet; group 2, hypercholesterolemic diet associated with daily administration of 3 mg of rosiglitazone from day 14 after beginning the diet; and group 3, hypercholesterolemic diet associated with daily administration of 3 mg of rosiglitazone since the beginning of the experiment. Sclera and choroid underwent histologic and histomorphometric analyses. Retina underwent immunohistochemical analysis with anti-calretinin and anti-glial fibrillary acidic protein (GFAP) antibodies. RESULTS: No abnormalities were observed in the control group. Group 1 had significant increases in scleral and choroidal thicknesses compared with the control group (P < .01) and group 3 (P < .05). Group 1 presented significant increases in immunoreactivity (P < .001) to the anti-calretinin antibody compared with the other groups. Groups 2 and 3 had significant (P < .002) increases in calretinin immunoreactivity compared with the control group. GFAP was negative in all groups. CONCLUSION: The hypercholesterolemic diet induced early retinal, choroidal, and scleral abnormalities. Rosiglitazone preserved the structural anatomy.

Comprovação anatomopatológica da presença de tecido vascular e nervoso evidenciado à ecografia como eco tangencial ao descolamento de coróide: relato de dois casos / Histopathologic confirmation of vascular and nervous tissue identified on ultrasound as an tangential image to choroidal detachment: report of two cases

São apresentados dois casos de descolamento de coróide em olhos com endoftalmite submetidos a enucleação. O estudo anatomopatológico permitiu identificar a presença de tecido vascular e nervoso interpondo-se entre a esclera e coróide deslocada, como havia sido evidenciado pela ecografia.

Two cases of endophthalmitis with choroidal detachment submitted to enucleation are presented. The histopathologic study allowed the identification of vascular and nervous tissue between the choroid and sclera, as it was seen on ultrasound examination.

Multiple wedge-shaped retinal nerve fiber layer defects in a patient with optic nerve glioma in the contralateral eye: case report.

This case report describes a young non-glaucomatous patient with neurofibromatosis and previous history of optic nerve glioma, which developed multiple wedge-shaped retinal nerve fiber layer defects close to a chorioretinal scar in the fellow eye. After discussing the different possible etiologies to the wedge-shaped defects, the disruption of the nerve fiber layer due to the chorioretinal lesion was considered the most plausible cause. However, further follow-up with visual field assessment, optic nerve head documentation and neuroimaging is mandatory in this case and may provide additional information to better understand it.

Multiple wedge-shaped retinal nerve fiber layer defects in a patient with optic nerve glioma in the contralateral eye: case report / Múltiplos defeitos localizados da camada de fibras nervosas em um paciente com glioma de nervo óptico no olho contralateral: relato de caso

This case report describes a young non-glaucomatous patient with neurofibromatosis and previous history of optic nerve glioma, which developed multiple wedge-shaped retinal nerve fiber layer defects close to a chorioretinal scar in the fellow eye. After discussing the different possible etiologies to the wedge-shaped defects, the disruption of the nerve fiber layer due to the chorioretinal lesion was considered the most plausible cause. However, further follow-up with visual field assessment, optic nerve head documentation and neuroimaging is mandatory in this case and may provide additional information to better understand it.

Este relato de caso descreve um paciente jovem, sem diagnóstico de glaucoma, portador de neurofibromatose e com história prévia de glioma de nervo óptico em um olho, que desenvolveu múltiplos defeitos localizados na camada de fibras nervosas próximos a uma cicatriz coriorretiniana no olho contralateral. Depois de discutir as diferentes etiologias possíveis para os defeitos localizados, a desorganização da camada de fibras nervosas secundária à lesão coriorretiniana foi considerada a causa mais plausível. Contudo, futuro acompanhamento com campo visual, documentação da cabeça do nervo óptico e neuroimagem é mandatório neste caso e pode fornecer informações adicionais para melhor entendê-lo.

[Histopathologic confirmation of vascular and nervous tissue identified on ultrasound as an tangential image to choroidal detachment: report of two cases]. / Comprovação anatomopatológica da presença de tecido vascular e nervoso evidenciado à ecografia como eco tangencial ao descolamento de coróide: relato de dois casos.

Two cases of endophthalmitis with choroidal detachment submitted to enucleation are presented. The histopathologic study allowed the identification of vascular and nervous tissue between the choroid and sclera, as it was seen on ultrasound examination.

[Polypoidal choroidal vasculopathy: clinical and angiographic features]. / Vasculopathie polypoïdale choroïdienne idiopathique: aspects cliniques et angiographiques.

OBJECTIVES: To clarify the clinical and angiographic characteristics of idiopathic polypoidal choroidal vasculopathy (IPCV) and its natural course. METHODS: Descriptive, prospective, consecutive case series of patients with presumed IPCV seen at Fort-de-France Hospital Center (French West Indies) between January and June 2006. All participants underwent complete eye examination and fluorescein and indocyanine green (ICG) angiography. The nature and location of the lesions were assessed in all eyes. Inclusion criteria were demonstration of characteristic lesions of IPCV on ICG angiography. RESULTS: Diagnosis of IPCV was made in 26 eyes of 14 patients, ten women and four men, all of Afro-Caribbean origin. The mean age was 77.4 years (range 60-92 years). Drusen were present in 13 eyes (50%), age-related macular degeneration (AMD) in one eye, and branch retinal vein occlusion in one eye. Twelve patients (85.7%) had bilateral involvement. Twelve eyes (46.2%) had visual acuity (VA) (Snellen) worse than 20/200, six eyes (23.1%) had VA between 20/200 and 20/100, and eight eyes (30.8%) had VA better than 20/100. On ICG angiography, lesions were predominantly located in the peripapillary area but also in the midperiphery, the macular and interpapillomacular areas, and the far periphery. CONCLUSION: Peripheral locations of IPCV and associations with drusen or AMD are not rare. The prognosis of the disease is poor in its natural course. Its etiology is unknown but genetic factors are probably involved. It is the main differential diagnosis for exudative AMD in black patients.

[Number, shape, and topography of leakage points in patients with central serous chorioretinopathy]. / Número, tipo e topografia dos pontos de vazamento em pacientes com coriorretinopatia serosa central.

PURPOSE: To evaluate the number, shape and topography of leakage points in patients with central serous chorioretinopathy (CSC). METHODS: Digital photographic files of fluorescein angiography with the diagnosis of CSC were reviewed by the author. The cases considered in remission and the examinations related to the same episode were excluded. The author filled out a form containing medical record number, initials, sex, age, date of the examination and leakage point characteristics (number, shape, and topography) of the selected cases. RESULTS: The examinations of 418 patients (455 eyes) were included, with a male:female ratio of 2.32:1. Ninety-one point fifteen percent of the patients presented the disease unilaterally and 8.85% bilaterally. The mean age was 43.04 years (range, 19-68 years). Among the 455 selected eyes, 88.35% presented typical forms of CSC while 10.11% decompensation of the retinal pigment epithelium and 1.54% with isolated retinal pigment epithelium (RPE) detachment. The evaluation of typical forms of CSC showed a leakage point with uniform dye spread (inkblot) in 88.81% and 11.19% with a smoke-stack phenomenon. Regarding the leakage points, 46.01% were located in the upper nasal quadrant, 23.27% in the upper temporal quadrant, 19.18% in the lower nasal quadrant, 11.01% in the lower temporal quadrant and 0.53% in the subfoveal area. CONCLUSIONS: In our series men were affected approximately two times more often then women, most of them with a unilateral involvement and in around the fourth decade of life. About 90% of the patients presented the typical forms, with 1 or 2 inkblot points or leakage. The superior nasal quadrant was the most affected. The isolated RPE detachment rarely occurred. Decompensation of RPE affected about 10% of the patients.

Número, tipo e topografia dos pontos de vazamento em pacientes com coriorretinopatia serosa central / Number, shape, and topography of leakage points in patients with central serous chorioretinopathy

OBJETIVO: Avaliar o número, forma e topografia dos pontos de vazamento em pacientes com coriorretinopatia serosa central (CRSC). MÉTODOS: Foram avaliados exames de angiografia fluoresceínica realizados utilizando o sistema digital Imagenet e selecionados os casos com diagnóstico de CRSC. Foram excluídos os casos em remissão e os exames referentes a um mesmo episódio. O autor preencheu fichas contendo o número do prontuário, iniciais, sexo, idade, data do exame e características do ponto de vazamento (número, localização e tipo) dos casos selecionados. RESULTADOS: Foram incluídos 418 pacientes (455 olhos), com uma relação homem:mulher de 2,32:1, sendo que 91,15 por cento dos pacientes apresentaram a doença unilateralmente e 8,85 por cento, bilateralmente. A idade variou de 19 a 68 anos, com média de 43,04 anos. Dos 455 olhos acometidos, 88,35 por cento apresentaram a forma típica de CRSC, enquanto 10,11 por cento a descompensação do epitélio pigmentário da retina (DEPR) e 1,54 por cento com descolamento isolado do epitélio pigmentário da retina (EPR). Entre os casos de CRSC típica, observaram-se 88,81 por cento dos pontos de vazamento em "mancha de tinta" e 11,19 por cento em "chaminé". O quadrante nasal superior foi o mais acometido, abrigando 46,01 por cento dos pontos de vazamento, seguido pelo temporal superior (23,27 por cento), nasal inferior (19,18 por cento), temporal inferior (11,01 por cento) e região subfoveal (0,53 por cento). CONCLUSÕES: Na nossa casuística, a CRSC acometeu aproximadamente duas vezes mais homens que mulheres, na maior parte das vezes unilateralmente e em pacientes da 4ª década de vida. Cerca de 90 por cento dos pacientes apresentaram a forma típica da doença, com 1 ou 2 pontos de vazamento em "mancha de tinta". O quadrante nasal superior foi o mais acometido. O descolamento isolado do EPR mostrou-se apresentação rara. Cerca de 10 por cento dos pacientes apresentaram descompensação do EPR.

Vasculopatia polipoidal idiopática da coróide / Idiopathic polypoidalchoroidal vasculopathy

Objetivo: Descrever os achados da tomografia de coerência óptica, angiofluoresceinografia e indocianinografia na vasculopatia polipoidal idiopática da coróide. Métodos: Realizou-se análise criteriosa dos exames complementares de angiofluoresceinografia e indocianinografia, comumente utilizados para o diagnóstico, assim como da tomografia de coerência óptica, em quatro olhos de uma série de três pacientes com vasculopatia polipoidal idiopática da coróide. Resultados: Os quatro olhos motraram lesöes subretinianas vermelho-alaranjadas, sendo que dois casos apresentaram descolamento hemorrágico do epitélio pigmentado da retina, além de manifestaçöes exsudativas e hemorrágicas associadas. A angiofluoresceinografia revelou dilataçöes aneurismáticas em ramificaçöes anormais de vasos da coróide em apenas 1 caso, ao contrário da indocianinografia que claramente demonstrou as lesöes em todos os casos. A tomografia de coerência óptica confirmou o descolamento hemorrágico espontâneo do epitélio pigmentado da retina em 2 casos. Conclusäo: A indocianinografia é o exame de escolha no diagnóstico da vasculopatia polipoidal da coróide, mas em alguns casos a associaçäo com a tomografia de coerência óptica e angiofluoresc einografia pode ser útil no diagnóstico e seguimento.

Coroidoretinopatia central serosa / Central serous chorioretinopathy

O autor descreve os achados clínicos e novs métodos diagnósticos da coroidoretinopatia central serosa. Discute os estudos experimentais e clínicos relacionados à patogênese da doença e apresenta as alternativas de tratamento e prognóstico da coroidoretinopatia central serosa, baseado em levantamento bibliográfico.