Retinal abnormalities in a patient with cutis marmorata telangiectatica congenita.

Cutis marmorata telangiectatica congenita is a rare congenital vascular malformation characterised by cutaneous vascular abnormalities, typically diagnosed at birth or in the early postnatal period. Although typically benign, this disease is associated with other systemic abnormalities, including rare ocular alterations, such as congenital glaucoma, cataracts and retinopathy.This manuscript describes a female infant, who presented with generalised livedo reticularis, a band of alopecia and cutaneous atrophy in the temporal region above the coronal suture. The patient was diagnosed with cutis marmorata telangiectatica congenita by a paediatrician, and an ophthalmological evaluation was requested. A funduscopy examination in both eyes showed temporal and superior retina with avascular areas with new vessels, venous dilations and shunts, and no retinal detachments. Given these findings, we performed retinal photocoagulation laser treatment with excellent results.This case report highlights the importance of early ophthalmological evaluation of children with this disease to prevent secondary complications, such as vitreous haemorrhage and tractional retinal detachment.

Racemose hemangioma presenting as a vitreous hemorrhage: case report / Hemangioma racemoso apresentando-se como hemorragia vítrea: relato de caso

ABSTRACT This report describes a case of retinal racemose hemangioma that first presented as a vitreous hemorrhage. The authors present the case of a 47-year-old woman with a sudden 5-day painless visual loss in her left eye. At the first visit, the best-correct visual acuities were 20/20 in the right eye and hand motions in the left eyes. Ultrasonography showed an attached retina and a massive vitreous hemorrhage. Pars plana vitrectomy was performed and a dilatation of large vessels was detected bulging from the optic disc. The best-correct visual acuities on day 30 postoperatively was 20/25 in the left eye. Fundus angiography and spectral-domain optical coherence tomography angiography showed anomalous arteriovenous communications with no intervening capillaries. The diagnosis was racemose hemangioma, an arteriovenous malformation of group 2 retina based on the Archer classification.

RESUMO Este relato descreve um caso de hemangioma racemoso da retina que se apresentou inicialmente como hemorragia vítrea. Os autores apresentam o caso de uma mulher de 47 anos com perda visual súbita e indolor 5 dias antes no olho esquerdo. Na primeira visita, a melhor acuidade visual corrigida foi de 20/20 no olho direito e movimentos das mãos no olho esquerdo. A ultrassonografia mostrou uma retina aderida e uma hemorragia vítrea maciça. Foi realizada vitrectomia pars plana, sendo detectada proliferação de grandes vasos salientes do disco óptico. A acuidade visual no dia 30 de pós-operatório foi de 20/25 no olho esquerdo. A angiografia de retina e a angiotomografia de coerência óptica de domínio espectral mostraram comunicações arteriovenosas anômalas sem capilares intermediários. O diagnóstico foi hemangioma racemoso, uma malformação arteriovenosa da retina do grupo 2 com base na classificação de Archer.

Ambliopia severa na infância relacionada à persistência da vasculatura fetal / Severe childhood amblyopia associated to persistence of fetal vasculature

RESUMO A persistência do vítreo primário hiperplásico, atualmente referida como persistência da vasculatura fetal, é uma anomalia congênita que resulta da não regressão do vítreo vascular primário e do sistema da artéria hialoide durante a embriogênese. Trata-se de uma anomalia unilateral na maioria dos casos, esporádica e comumente não associada a nenhum outro achado sistêmico. Clinicamente, essa condição pode ser classificada em persistência anterior e em persistência posterior da vasculatura fetal. A condição anterior está relacionada ao sistema da artéria ciliar, enquanto a persistência da vasculatura posterior associa-se à artéria hialoide e pode apresentar anormalidades, com desfecho visual desfavorável. A detecção da persistência do vítreo primário hiperplásico é de suma importância, visto que é um diagnóstico diferencial para retinoblastoma. O relato de caso a seguir descreve o acompanhamento ambulatorial em um Serviço de Oftalmologia de uma criança do sexo masculino com persistência da vasculatura fetal unilateral e sem alterações sistêmicas.

ABSTRACT Hyperplastic primary vitreous persistence, currently referred to as fetal vasculature persistence, is a congenital anomaly that results from non-regression of the primary vascular vitreous and hyaloid artery system during embryogenesis. It is a unilateral anomaly in the vast majority of cases, sporadic and commonly not associated with any other systemic finding. Clinically, this condition can be classified into anterior and posterior persistence of fetal vasculature. The anterior condition is related to the ciliary artery system, while the persistence of the posterior vasculature is associated with the hyaloid artery, which may present abnormalities with an unfavorable visual outcome. Detecting persistent hyperplastic primary vitreous is of paramount importance, as it is a differential diagnosis for retinoblastoma. The following case report describes the outpatient follow-up at the ophthalmology service of the Federal University of Triângulo Mineiro (UFTM) of a male child with persistent unilateral fetal vasculature and no systemic changes.

Ocular findings in Fabry disease in Colombian patients / Manifestaciones oculares de la enfermedad de Fabry en pacientes colombianos

Fabry disease is a rare X-linked disorder caused by an alpha-galactosidase enzyme deficiency, which leads to a progressive lysosomal glycosphingolipids accumulation, mainly globotriaosylceramide, in multiple organism tissues including the eye. This case series describes the first ophthalmological Colombian report of Fabry disease highlighting the importance of ocular signs as markers of the disease, useful in diagnosis and treatment to avoid long-term complications that lead to a morbi-mortality increment. We describe five cases of Fabry disease from Bogotá, Colombia, including a complete clinical history, ophthalmologic, optometric examination, and photographs. We found that all patients had refractive defects and that in all cases corneal verticillata pattern was found. Four patients presented with posterior capsule lens brown-beige deposits and four patients had conjunctival and retinal tortuous vessels. A complete ophthalmologic examination is important for prompt diagnosis, which is key to starting a multidisciplinary treatment and reducing morbi-mortality.

La enfermedad de Fabry es un raro trastorno ligado al cromosoma X causado por deficiencia de la enzima alfa-galactosidasa y la consiguiente y progresiva acumulación lisosómica de glucoesfingolípidos, especialmente la globotriaosilceramida, en múltiples tejidos del organismo, incluido el ojo. En este reporte se presenta la primera serie de casos de manifestaciones oculares de la enfermedad de Fabry en Colombia, resaltando la importancia de los signos oculares como ayuda para el diagnóstico temprano. Se presentan cinco casos de la enfermedad en Bogotá y se da cuenta de las historias clínicas y los exámenes oftalmológicos y de optometría, y se incluyen fotografías. En todos los pacientes se hallaron errores de refracción y se evidenció el patrón de córnea verticillata. Cuatro pacientes presentaban depósitos de color café y castaño claro en la cápsula posterior del cristalino, y cuatro tenían tortuosidad vascular conjuntival y retiniana. El examen oftalmológico completo es importante para hacer un diagnóstico oportuno con el fin de iniciar el tratamiento multidisciplinario y reducir la morbimortalidad.

Ocular findings in Fabry disease in Colombian patients / Manifestaciones oculares de la enfermedad de Fabry en pacientes colombianos

ABSTRACT Fabry disease is a rare X-linked disorder caused by an alpha-galactosidase enzyme deficiency, which leads to a progressive lysosomal glycosphingolipids accumulation, mainly globotriaosylceramide, in multiple organism tissues including the eye. This case series describes the first ophthalmological Colombian report of Fabry disease highlighting the importance of ocular signs as markers of the disease, useful in diagnosis and treatment to avoid long-term complications that lead to a morbi-mortality increment. We describe five cases of Fabry disease from Bogotá, Colombia, including a complete clinical history, ophthalmologic, optometric examination, and photographs. We found that all patients had refractive defects and that in all cases corneal verticillata pattern was found. Four patients presented with posterior capsule lens brown-beige deposits and four patients had conjunctival and retinal tortuous vessels. A complete ophthalmologic examination is important for prompt diagnosis, which is key to starting a multidisciplinary treatment and reducing morbi-mortality.

RESUMEN La enfermedad de Fabry es un raro trastorno ligado al cromosoma X causado por deficiencia de la enzima alfa-galactosidasa y la consiguiente y progresiva acumulación lisosómica de glucoesfingolípidos, especialmente la globotriaosilceramida, en múltiples tejidos del organismo, incluido el ojo. En este reporte se presenta la primera serie de casos de manifestaciones oculares de la enfermedad de Fabry en Colombia, resaltando la importancia de los signos oculares como ayuda para el diagnóstico temprano. Se presentan cinco casos de la enfermedad en Bogotá y se da cuenta de las historias clínicas y los exámenes oftalmológicos y de optometría, y se incluyen fotografías. En todos los pacientes se hallaron errores de refracción y se evidenció el patrón de córnea verticillata. Cuatro pacientes presentaban depósitos de color café y castaño claro en la cápsula posterior del cristalino, y cuatro tenían tortuosidad vascular conjuntival y retiniana. El examen oftalmológico completo es importante para hacer un diagnóstico oportuno con el fin de iniciar el tratamiento multidisciplinario y reducir la morbimortalidad.

Coats disease associated with vasoproliferative tumor treated with cryotherapy and intravitreal injections of triamcinolone / Doença de Coats associada a tumor vasoproliferativo tratada com crioterapia e injeções intravítreas de triancinolona

Abstract Report of a case of Coats disease associated with retinal vasoproliferative tumor in a young female patient with two peripheral vascularized tumors and lipid exudation involving the macula and peripapillary region with serous retinal detachment areas and pre-papillary fibrous proliferation. The proposed and performed treatment was the intravitreal injection of triamcinolone acetonide to decrease the tumor exudation, followed by photocoagulation of the peripheral areas of telangiectasia without subretinal fluid and cryotherapy of the tumors. Despite that this is a rare and difficult to treat combination, in this case report, success was obtained in receding the tumor masses and reapplying the retina, leading to anatomic and visual stabilization.

Resumo Relato de um caso de Doença de Coats associada a tumor vasoproliferativo de retina em uma paciente jovem com duas tumorações vascularizadas periféricas e exsudação lipídica acometendo mácula e região peripapilar com áreas de descolamento de retina seroso e proliferação fibrosa pré-papilar. O tratamento proposto e realizado foi a injeção intra-vítrea de triancinolona para diminuir a exsudação do tumor, seguida de fotocoagulação periférica das áreas de telangiectasia sem fluido subretiniano e criocoagulação dos tumores. Apesar de se tratar de uma associação rara e de difícil tratamento, neste relato de caso, obteve-se êxito em regredir as massas tumorais e reaplicar a retina, levando à estabilização anatômica e visual.

[Ophthalmic manifestations in Mexican patients with Fabry disease]. / Manifestaciones oftalmológicas en pacientes mexicanos con enfermedad de Fabry.

UNLABELLED: Fabry disease (FD) is a rare X-linked genetic lysosomal storage disease caused by a deficiency of the enzyme α-galactosidase A, that produces accumulation of globotriaosylceramide. There is a multisystemic involvement, including renal, cardiac, eye, and nervous system manifestations. AIM: To perform a descriptive analysis of the ophthalmological manifestations in Mexican patients with FD. MATERIAL AND METHODS: We studied 13 patients with clinical and biochemical diagnostic of FD. RESULTS: Cornea verticillata was found in 57% of men and 33% carriers. CONCLUSION: Cornea verticillata was the most common ocular manifestation in males and carriers of FD in Mexico.

[Retinal racemose hemangioma (Wyburn-Mason syndrome)--a patient ten years follow-up: case report]. / Hemangioma racemoso de retina (síndrome de Wyburn-Mason)--acompanhamento de um paciente por dez anos: relato de caso.

To describe the case of a patient who presents retinal racemose hemangioma (Wyburn-Mason syndrome) and his 10 years follow-up. Ten years after the disease diagnosis, the ophthalmologic exam had no changes, as well as the campimetry and the retinography. The long term prognosis is controversial. Some authors report ocular lesions stability and others report progressive visual loss.

Hemangioma racemoso de retina (síndrome de Wyburn-Mason): acompanhamento de um paciente por dez anos: relato de caso / Retinal racemose hemangioma (Wyburn-Mason syndrome): a patient ten years follow-up: case report

Relatar o caso de um paciente que apresentou hemangioma racemoso de retina (síndrome de Wyburn-Mason) e seu acompanhamento por 10 anos. Dez anos após o diagnóstico da doença o exame oftalmológico não sofreu alterações, assim como o campo visual e a retinografia. O prognóstico a longo prazo é controverso. Alguns autores relatam estabilidade das lesões oculares, como no caso descrito, enquanto outros referem perda progressiva da visão.

To describe the case of a patient who presents retinal racemose hemangioma (Wyburn-Mason syndrome) and his 10 years follow-up. Ten years after the disease diagnosis, the ophthalmologic exam had no changes, as well as the campimetry and the retinography. The long term prognosis is controversial. Some authors report ocular lesions stability and others report progressive visual loss.

Doença de Coats: perfil de casos encaminhados para serviço referência em oncologia ocular / Coats Disease: profile of patients referred to a reference ocular oncology service

OBJETIVO: Relatar o perfil de pacientes com doença de Coats encaminhados para afastar o diagnóstico de retinoblastoma. MÉTODOS: Realizado estudo retrospectivo, com base na revisão de prontuários e exames de imagem, de dez pacientes consecutivos. Foram avaliados os dados referentes à idade, sexo, queixa principal, estágio da doença à apresentação, tratamento e evolução. RESULTADOS: A média de idade à apresentação foi de 43,9 meses. Oito pacientes eram do sexo masculino. Leucocoria ou estrabismo foram as principais queixas, presentes em nove casos. Oito pacientes tinham doença em estágio 3B, um estágio 3A e um estágio 2B. Dos oito casos com descolamento total de retina (3B) em sete foi optado apenas pela observação e um submetido a retinopexia sem sucesso. O caso com descolamento parcial (3A) foi tratado por crioterapia e depois feita fotocoagulação por laser diodo, evoluindo com reaplicação da retina e obliteração das teleangiectasias. O caso sem descolamento associado (2B) foi tratado por fotocoagulação por laser de argônio, com boa obliteração dos vasos anormais. A acuidade visual final foi de percepção luminosa em 3 e ausência de percepção luminosa em 5 dos 8 casos com doença 3B, os casos com doença 3A e 2B mantiveram visão de movimentos de mão. Nenhum dos casos evoluiu para glaucoma neovascular no segmento médio de 26,7 meses. CONCLUSÃO: A maioria dos pacientes com doença de Coats encaminhados para afastar a suspeita de retinoblastoma apresenta doença avançada ao diagnóstico. Nestes casos, devido ao péssimo prognóstico visual e alta complexidade do tratamento cirúrgico, pode-se optar apenas pela observação.

PURPOSE: To report the profile of Coats' disease patients, referred to exclude retinoblastoma. METHODS: Retrospective study of medical charts from ten consecutive patients. Data evaluated include age at diagnosis, gender, chief complain, disease stage, treatment and evolution. RESULTS: Mean age at diagnosis was 43.9 months. Eight patients had stage 3B of the disease, one stage 3A and one 2B. From the eight patients with total retinal detachment (3B disease), seven were managed by observation one was submitted to unsuccessful retinopexy. The patient with partial retinal detachment (3A) was treated with cryotherapy followed by diode laser photocoagulation with resolution of the retinal detachment and obliteration of the abnormal vessels. The patient without retinal detachment (2B), was treated by argon laser photocoagulation with good obliteration of the abnormal vessels. Final visual acuity was light perception in 3 and no light perception in 5 out of the 8 patients with 3B disease, patients with 3A and 2B disease, retained hand motions vision. None of the patients developed neovascular glaucoma in a mean follow-up of 26.7 months. CONCLUSIONS: The majority of Coats' disease patient referred to exclude retinoblastoma diagnosis, have advanced disease. In these cases, due to the very poor visual prognosis and high complexity of surgical treatment, simple observation can be an option.

[Congenital retinal macrovessel: case report]. / Macrovaso retiniano congênito: relato de caso.

The authors report a case of arteriolar retinal macrovessel, diagnosed by routine ophthalmologic examination, as well as its optic coherence tomography aspects. Congenital retinal macrovessel is a large aberrant vessel, often unilateral, usually a vein, rarely an artery, located in the posterior pole which can cross the fovea and median raphe.

Macrovaso retiniano congênito: relato de caso / Congenital retinal macrovessel: case report

Os autores apresentam o caso de um macrovaso arteriolar de retina, diagnosticado ao exame de rotina, bem como seu aspecto à tomografia de coerência óptica. O macrovaso retiniano congênito é um grande vaso aberrante, geralmente unilateral, usualmente uma veia, raramente uma artéria, presente no pólo posterior e que pode cruzar a região foveal e rafe mediana.

The authors report a case of arteriolar retinal macrovessel, diagnosed by routine ophthalmologic examination, as well as its optic coherence tomography aspects. Congenital retinal macrovessel is a large aberrant vessel, often unilateral, usually a vein, rarely an artery, located in the posterior pole which can cross the fovea and median raphe.

[Congenital retinal macrovessel: case report]. / Macrovaso retiniano congênito: relato de caso.

Congenital retinal macrovessel is a rare vascular anomaly in which a large vessel and its tributaries cross the macula. We describe a case of retinal macrovessel in a patient complaining of decrease in visual acuity.

Occult chorioretinal anastomosis in age-related macular degeneration: a prospective study by optical coherence tomography.

PURPOSE: To investigate macular optical coherence tomography (OCT) features in patients with chorioretinal anastomosis (CRA) and drusen, as well as their correlation with the Gass occult-CRA hypothesis. DESIGN: Prospective observational case series. METHODS: setting: Tertiary ophthalmic referral center. study population: All patients with biomicroscopic evidence of CRA and drusen consecutively evaluated between February 2003 and March 2004. observation procedures: Third-generation OCT evaluation and stereoscopic angiographic studies. main outcome measures: Macular morphologic features at baseline and at 12 weeks. RESULTS: Twenty eyes with CRA and drusen were identified in 11 patients, seven women (63.6%) and four men (36.4%) ranging in age from 69 to 82 years (median, 79 years). Focal elevation of the retinal pigment epithelium was seen in eyes with stage 1 (pre-clinical) CRA. Small hyperreflective signals at the level of the elevated retinal pigment epithelium were seen in stage 2 CRA. In stage 3 CRA, a hyperreflective "mound" at the level of the elevated retinal pigment epithelium was seen in association with a thickened retina. In stage 4 CRA sub-retinal pigment epithelium fluid accumulation was present, and complete disorganization of the macular region was observed in stage 5 CRA. Macular changes were observed in eight eyes (40%) at follow-up, with all but one CRA lesion progressing one stage. CONCLUSION: Morphologic features and changes demonstrated by OCT suggest that fibrovascular detachment of the retinal pigment epithelium followed by development of occult CRA are the initial events occurring in eyes with CRA in age-related macular degeneration. Our findings may support the evolutionary CRA staging system proposed by Gass.

Macrovaso retiniano congênito: relato de caso / Congenital retinal macrovessel: case report

O macrovaso retiniano congênito é rara anomalia vascular em que um vaso grande e suas tributárias cruzam a mácula. Descrevemos um caso de macrovaso retiniano em paciente com queixa de baixa acuidade visual.

Vascular retinal abnormalities in neonates of mothers who smoked during pregnancy.

OBJECTIVE: To investigate whether maternal smoking during pregnancy causes retinal abnormalities in the newborn. STUDY DESIGN: One hundred sixty-two neonates of smoking mothers and 162 matched neonates of nonsmoking mothers (112 appropriate for gestational age [AGA], 30 small for gestational age [SGA], 20 large for gestational age [LGA] in each group) were studied. RESULTS: Retinal arterial narrowing and straightening (RANS) was observed in 52 and 10 eyes of the newborns of smoking and nonsmoking mothers, respectively (P <. 000001) in association with elevated blood pressure in the neonates. The frequency of RANS was more than 3-fold greater in the SGA neonates than in the AGA and LGA neonates of the smoking mothers. Retinal venous dilatation and tortuosity (RVDT) was found in 100 and 36 eyes of neonates of smoking and nonsmoking mothers, respectively (P <.000001). The frequency of RVDT in the SGA neonates of the smoking mothers was 2.5-fold and 4.2-fold greater than in the AGA infants and the LGA infants, respectively. Also, intraretinal hemorrhages were found in 61 and 31 eyes of neonates of smoking and nonsmoking mothers, respectively (P =.0007) in association with elevated hematocrit and RVDT, whereas no intraretinal hemorrhages were found when RANS was present. All retinal abnormalities resolved by 6 months in infants of smoking mothers and by 2 months in infants of nonsmoking mothers. CONCLUSIONS: Maternal smoking during pregnancy causes increased frequency of RANS, RVDT, and intraretinal hemorrhages; but these retinal abnormalities resolve by 6 months of age.

Complicaçäo ocular de comunicaçäo arteriovenosa de retina / Ocular complications of arteriovenous communications of the retina

Os autores descrevem um caso de comunicação arteriovenosa de retina (CAVR), com descompensação microvascular progressiva e edema macular. Analisam fsiopatologia do processo, variedades clínicas, complicações e terapêutica desta patologia extremamente rara.

Vitreo-retinopatia familial exsudativa: relato de uma família / Familial exudative vitreoretinopathy: report of a family

Os aa. apresentam 6 casos de vítreo-retinopatia familial exsudativa enfatizando os principais aspectos clínicos, oftalmoscópicos, angiográficos e ecográficos que permitiram o diagnóstico desta rara patologia. Fazem uma revisäo do assunto e concluem ser esta patologia de diagnótico fácil se analisada em conjunto, porém, em casos isolados o diagnóstico diferencial deve ser feito com a fibroplasia retrocristaliana e Doença de Coats, devendo sempre ser lembrada frente a um caso de leucocoria na infância