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A case of tyrosinosis due to lack of soluble tyrosine aminotransferase is described. The first clinical sign of this disorder may be bilateral keratopathy. Treatment is diet with restriction of phenylalanine and tyrosine. The disorder is rare and must be differentiated from other conditions of tyrosinosis.

The series studied included 51 patients subjected to operation for pituitary adenoma. The visual status was analysed both pre- and postoperatively. The pre- and postoperative parameters were compared with clinical information, ophthalmological and neuroradiological findings with a view to an evaluation of their prognostic value. In 36 patients with chromophobe adenoma, visual field defects were present in 92% before the operation; visual function improved in 62% and returned to normal in 24%. Among 15 patients with eosinophil or mixed adenoma, only two (13%) had visual field defects pre-operatively. In those patients where operation was followed by a distinct visual improvement, the pre-operative ophthalmological findings were as follows: visual acuity greater than 6/24, normal optic discs, visual field defects up to two quadrants, and pneumoencephalographic findings suggestive of only a small suprasellar tumour.

A 51-year-old man is reported with cystic disease of the renal medulla ushered in by polyuria and weakness, followed by progressive uraemia with loss of salt and severe anaemia. The urine contained no protein and was sterile, and the sediment was normal. The specific gravity of the urine was less than 1.010. Necropsy revealed small, shrunken kidneys with medullary cysts ranging in size up to 5 mm in diameter. The diagnosis of cystic disease of the renal medulla as well as the difficulty in differentiating this disease from familial juvenile nephronophthisis is discussed. It is suggested that cystic disease of the renal medulla and familial juvenile nephronophthisis are probably the same disease, the former name being used for cases with gross cysts, the latter for those with known heredity.

Screening for hypertension has been done in an epidemiological study of a large group of 5 200 Copenhagen men aged 40–59. Men having BP readings above the limits systolic ≥ 165 mmHg and diastolic 105 mmHg, and ≥ diastolic 110 mmHg alone, were subjected to further study. 196 men were untreated and had BPs above the arbitrary limit set up, 150 of whom were included in the present study. One-third of the patients had manifestations of high BP in heart or eyes. Blood values of cholesterol, uric acid, quantitative lipoprotein electrophoresis, Hb and haematocrit were compared with normotensive controls. No differences between patients and controls were found. All patients had their BP measured twice by one observer, the value being lower in the second than in the first measurement, but in only two patients was the second BP below 140–90 mmHg. Few of the patients had earlier been to see their doctor because of symptoms. The results of the study indicate that hypertension is a common and symptomless abnormality or disease and, as shown in this and other studies, involves an increased risk of cardiovascular complications.

Eleven patients with essential hypertension were treated with hydrochlorothiazide/KCl for three months. A significant fall in total blood volume, exchangeable sodium and blood pressure could be demonstrated both after one to two weeks and after three months of treatment, while a fall in serum sodium and body weight was only significant after one to two weeks of treatment. Thus, hypovolemia may, perhaps, be the explanation for the antipressor effect of thiazide even after three months of treatment.

We describe a case of painless progressive loss of vision in a 15 years old male patient with Alport syndrome and diffuse Leiomyomatosis. After a comprehensive history and ocular examination, a diagnosis of bilateral posterior subcapsular cataracts was given. Patient underwent cataract extraction. His best corrected post-operative visual acuity was 20/25 in both eyes. We conclude that posterior subcapsular cataracts may lead to painless and progressive loss of vision in patients with Alport syndrome and Diffuse Leiomyomatosis.Nós descrevemos o caso de perda visual progressiva indolor em um paciente de 15 anos, sexo masculino, com Síndrome de Alport e Leiomiomatose difusa. Após história completa e exame oftalmológico, foi feito o diagnóstico de catarata subcapsular posterior bilateral. O paciente foi submetido à cirurgia de catarata. Nós concluímos que cataratas subcapsulares posteriores podem levar a perda visual progressiva e indolor em pacientes com Síndrome de Alport e Leiomiomatose Difusa.

SUMMARY The authors describe two cases of myoclonic encephalopathy of infants showing the characteristic features of ‘dancing eyes’, somatic myoclonic ataxia and irritability. The findings in these and in other reported cases are discussed with regard to treatment and etiology. RESUME l' encephalopathie myoclonique des nourrissons: rapport de deux cas Les auteurs decrivent deux cas d'encephalopathie myoclonique des nourrissons qui presentaient les traits caracteristiques des ‘yeux dansants’, ataxie somatique myoclonique et irritabilitye. Les constatations dans ces cas et dans les autres cas rapportes dans la literature sont discutees du point de vue du traitement et de l'etiologie. ZUSAMMENFASSUNG Myoklonische Encephalopathie bei Kindern: Bericht uber zwei Falle Die Autoren beschreiben zwei Falle von myoklonischer Encephalopathie mit den charakteristischen Zeichen der ‘tanzenden Augen’, einer somatischen myoklonischen Ataxie und Erregbarkeit. Die Befunde bei diesen und anderen Fallen in der Literatur werden diskutiert im Hinblick auf Behandlung und Atiologie. RESUMEN Encefalopatla mioclonica del lactante: relacion de dos casos Los autores describen dos casos de encefalopatia mioclonica del lactante que presentan las characteristicas de los ‘ojos danzantes’, ataxia somatica mioclonica e irritabilidad. Se discuten los hallazgos de estos casos y de otros publicados con miras a su tratamiento y etiologia.

SUMMARY Three new cases of neuroblastoma with acute cerebellar encephalopathy in infants are reported and a survey of more than 20 cases is given. The relationship between this disease and the ‘ancing eye’ syndrome (or Kinsbourne's infantile myoclonic encephalopathy) is discussed. The authors feel that a neuroblastoma may be the causative factor in both diseases, since there is evidence that neuroblastomata spontaneously regress or mature into neural crest cells in early infancy. Because acute cerebellar encephalopathy may be associated with deterioration of mental function, all children with symptoms of cerebellar encephalopathy must be studied repeatedly in order to exclude a neuroblastoma. RESUME Les auteurs rapportent trois nouveaux cas avec encephalopathie cerebelleuse aigue ainsi qu'une revue de plus de vingt cas de la litterature. La relation entre cette affection et le syndrome des ‘yeux dansant’ ou encephalopathie myoclonique infantile est discutee. Les auteurs pensent qu'un neuroblastome ayant spontanement regresse ou evolue dans les cellules de la crete neurale peut etre la cause d'encephalopathie myoclonique infantile. Puisque celle-ci peut entrainer une deterioration des fonctions mentales, tous les enfants presentant une telle atteinte doivent faire l'objet d'etudes systematiques pour eliminer un neuroblastome. ZUSAMMENFASSUNG Es wird uber drei neue Falle eines Neuroblastomsmitakutercerebellaref Enzephalopathie bei Kindern berichtet und ein Uberblick uber mehr als 20 publizierte Falle gegeben. Die Beziehung dieses Krankheitskomplexes zu dem Syndrom der ‘tanzenden Augen’ oder der infantilen myoklonischen Enzephalopathie (von Kinsbourne beschrieben) wird diskutiert. Die Autoren sind der Ansicht, daβ ein Neuroblastom, das sich spontan zuruckgebildet oder zu Zellen der embryonalen Neuralleiste umgebildet hat, als Ursache einer infantilen myoklonischen Enzephalopathie in Frage kommt. Da es zum Abbau geistiger Funktionen fuhren kann, mussen alle Kinder mit diesen Symptomen wiederholt untersucht werden, um ein Neuroblastom mit Sicherheit auszuschlieβen. RESUMEN Se aportan tres nuevos casos de neuroblastoma con encefalopatia cerebelosa aguda en ninos, y se da una revision de mas de 20 casos publicados. Se discute la relacion de esta entidad patologica con el sindrome de ‘ojos danzante’ o encefalopatia mioclonica infantil (descrita por Kinsbourne). Los autores piensan que un neuroblastoma que regreso espontaneamente o que maduro en las celulas de la cresta neural, puede haber sido la causa de casos de encefalopatia mioclonica infantil. Puesto que puede causar alguna deterioracion mental, todos los ninos con estos sintomas deben ser estudiados repetidamente para excluir un neuroblastoma.

In a longitudinal study, 19 infants who displayed the setting-sun eye phenomenon were observed during the first year of life. Nine of the infants showed no signs of illness, eight had an evident increase in intracranial pressure requiring surgical relief, and two had transient signs of increased intracranial pressure which resolved spontaneously. The setting-sun phenomenon could be elicited both by alteration of the infant's position and by removal of light, and it also occurred spontaneously. The effectiveness of the eliciting mechanism depended on the age of the infant. The component parts of the phenomenon consist of downward rotation of the eyeballs and retraction of the upper eyelids, sometimes accompanied by raising of the brow. The phenomenon can be observed in healthy infants, and its value in early recongnition of increased intracranial pressure is limited. The response might indicate increased intracranial pressure if it can be elicited by alteration of position in infants older than four weeks of age or if there is a marked response to removal of light in infants younger than eight weeks or older than 20 weeks of age, especially if the response is combined with constant or intermittent strabismus or undulating eye-movements.

Submitted by Guilherme Lemeszenski (guilherme@nead.unesp.br) on 2013-08-22T18:46:03Z No. of bitstreams: 1 S0004-27492007000600027.pdf: 1889207 bytes, checksum: 144e42adda5ee17a3aa27d7a60f75959 (MD5) Made available in DSpace on 2013-08-22T18:46:03Z (GMT). No. of bitstreams: 1 S0004-27492007000600027.pdf: 1889207 bytes, checksum: 144e42adda5ee17a3aa27d7a60f75959 (MD5) Previous issue date: 2007-12-01 Made available in DSpace on 2013-09-30T19:35:15Z (GMT). No. of bitstreams: 2 S0004-27492007000600027.pdf: 1889207 bytes, checksum: 144e42adda5ee17a3aa27d7a60f75959 (MD5) S0004-27492007000600027.pdf.txt: 20785 bytes, checksum: 6fae4b6dc593b837f8e88c689043c297 (MD5) Previous issue date: 2007-12-01 Submitted by Vitor Silverio Rodrigues (vitorsrodrigues@reitoria.unesp.br) on 2014-05-20T13:36:28Z No. of bitstreams: 2 S0004-27492007000600027.pdf: 1889207 bytes, checksum: 144e42adda5ee17a3aa27d7a60f75959 (MD5) S0004-27492007000600027.pdf.txt: 20785 bytes, checksum: 6fae4b6dc593b837f8e88c689043c297 (MD5) Made available in DSpace on 2014-05-20T13:36:28Z (GMT). No. of bitstreams: 2 S0004-27492007000600027.pdf: 1889207 bytes, checksum: 144e42adda5ee17a3aa27d7a60f75959 (MD5) S0004-27492007000600027.pdf.txt: 20785 bytes, checksum: 6fae4b6dc593b837f8e88c689043c297 (MD5) Previous issue date: 2007-12-01 São apresentados três raros casos de osteoma do etmóide, com extensão para o quadrante medial da órbita e que apresentavam algumas particularidades que os tornavam ainda mais inusitados, como terem acontecido em mulheres, em faixa etária não usual e com queixa de epífora. Os achados radiográficos foram típicos da afecção e os casos foram operados, com resolução do problema. We report three rare cases of ethmoid osteoma extending to the medial quadrant of the orbit that had singular particularities, such as occurring in women, at an unusual age group, and complaint of epiphora. The radiographic images were typical of this condition. Patients were submitted to surgery with complete resolution of the disease. Universidade Estadual Paulista Julio de Mesquita Filho Faculdade de Medicina UNESP Faculdade de Medicina Departamento de Oftalmologia, Otorrinolaringologia e Cirurgia de Cabeça e Pescoço Universidade Estadual Paulista Julio de Mesquita Filho Faculdade de Medicina Departamento de Oftalmologia, Otorrinolaringologia e Cirurgia de Cabeça e Pescoço UNESP Faculdade de Medicina Departamento de Patologia Universidade Estadual Paulista Julio de Mesquita Filho Faculdade de Medicina UNESP Faculdade de Medicina Departamento de Oftalmologia, Otorrinolaringologia e Cirurgia de Cabeça e Pescoço Universidade Estadual Paulista Julio de Mesquita Filho Faculdade de Medicina Departamento de Oftalmologia, Otorrinolaringologia e Cirurgia de Cabeça e Pescoço UNESP Faculdade de Medicina Departamento de Patologia

São apresentados três raros casos de osteoma do etmóide, com extensão para o quadrante medial da órbita e que apresentavam algumas particularidades que os tornavam ainda mais inusitados, como terem acontecido em mulheres, em faixa etária não usual e com queixa de epífora. Os achados radiográficos foram típicos da afecção e os casos foram operados, com resolução do problema.We report three rare cases of ethmoid osteoma extending to the medial quadrant of the orbit that had singular particularities, such as occurring in women, at an unusual age group, and complaint of epiphora. The radiographic images were typical of this condition. Patients were submitted to surgery with complete resolution of the disease.

OBJETIVO: Avaliar os achados oculares, pelo exame oftalmológico, em indivíduos que receberam transplante cardíaco, buscando especialmente investigar possíveis alterações na camada de fibras nervosas da retina com polarímetro de varredura a laser. MÉTODOS: Foram estudados 15 indivíduos que receberam transplante cardíaco no período de setembro de 2003 a julho de 2004. Todos foram submetidos a exame que constava de acuidade visual para longe (AVL), biomicroscopia, tonometria e fundoscopia. Onze pacientes foram submetidos ao analisador de fibras nervosas GDx. Doze eram do sexo masculino e a média da idade foi de 55,0 ± 13,5 anos. O tempo decorrido desde o transplante variou de 3 a 74 meses, com média de 29,7 ± 20,8 meses. RESULTADOS: A AVL com melhor correção foi igual ou melhor do que 20/40 em todos os pacientes. Em um deles observou-se a presença de catarata subcapsular posterior; em outro, nubéculas na córnea secundárias a quadro de herpes zoster. À fundoscopia pôde-se observar lesão cicatrizada sugestiva de retinocoroidite em um paciente. As alterações observadas à biomicroscopia e à fundoscopia eram esperadas devido à imunossupressão subseqüente ao transplante. Ao GDx observou-se perda de fibras da camada de fibras nervosas da retina superior em 12 dos 22 olhos avaliados. CONCLUSÃO: Os resultados apóiam a suposição de que antes ou durante o transplante cardíaco tenha havido diminuição no aporte de oxigênio à circulação retiniana, levando a perda parcial de fibras da retina.PURPOSE: To evaluate findings of ophthalmologic examinations in cardiac transplant recipients, searching especially for changes in the retinal nerve fiber layer by means of Scanning Laser Polarimetry. METHODS: Fifteen cardiac transplant recipients were examined from September 2003 to July 2004. All of them underwent ophthalmologic examination, which consisted of visual acuity (VA), biomicroscopy, tonometry and fundoscopy. Fiber layer analyzer - GDx - examination was performed in eleven patients. Twelve patients were men. The mean age was 55.0 ± 13.5 years. The follow-up since transplantation lasted from 3 to 74 months; mean value 29.7 ± 20.8 months. RESULTS: VA with best correction in all patients attained at least 20/40. Subcapsular posterior cataract was seen in one patient; another presented corneal nubeculae secondary to herpes zoster. In one case a scar suggesting retinocoroiditis was seen at fundoscopy. Biomicroscopic and the fundoscopic findings were expected because of immunosuppressive treatment, following transplantation. GDx examination disclosed loss of fibers in the superior retinal fiber layer in 12 of the 22 examined eyes. CONCLUSION: These results support the hypothesis that reduction of oxygen inflow in retinal circulation before or during heart transplantation could lead to loss of fibers in the retinal nerve fiber layer.

OBJETIVOS: Estudar a prevalência de uveítes na população local de espondiloartropatias e sua relação temporal com achados articulares. MÉTODOS: Foram revisados prontuários de 77 pacientes com espondiloartropatias atendidos no ambulatório de reumatologia do Hospital Universitário Evangélico de Curitiba, para diagnóstico do tipo de espondiloartropatia, sexo, idade, presença e tipo de uveite, tempo decorrido entre as primeiras manifestações oculares e as articulares. RESULTADOS: Uveíte foi encontrada em 12 dos 77 pacientes (15,6%), sendo anterior em 83,3% dos casos. O aparecimento da uveíte foi semelhante em todas as formas de espondiloartropatia (p=0,27) e não sofreu influência do sexo do paciente (p=0,74). O tempo médio de aparecimento dos sintomas oculares em relação ao diagnóstico articular foi de 4,04 meses para artrite reativa e 73 meses para espondilite anquilosante (p=0,009). CONCLUSÕES: A uveíte encontrada em pacientes com espondiloartropatia é, na sua grande maioria, anterior. O aparecimento da uveíte em relação aos sintomas articulares é mais precoce em casos de artrite reativa do que em espondilite anquilosante.PURPOSE: To study uveitis prevalence in the local population with spondyloarthritis and its temporal relationship with joint complaints. METHODS: We reviewed seventy-seven charts of spondyloarthropathy patients from the rheumatology clinic of the "Hospital Universitário Evangélico de Curitiba" for spondyloarthritis class, patients' sex and age, occurrence of uveitis and its location and relationship between the first episode of uveitis and initial joint complaints. RESULTS: Uveitis was found in 12 of 77 patients (15.6%) which was anterior in 83.3% of the cases, without preference for spondyloarthropathy class (p=0.72) and patients' sex (p=0.74). In patients with reactive arthritis, the mean time between uveitis appearance and joint complaints was 4.04 months and in ankylosing spondylitis 73 months (p=0.009). CONCLUSION: Spondyloarthropathy patients have uveitis that is anterior in most of the cases and that appears earlier in reactive arthritis than in ankylosing spondylitis.

Apresentação de um caso de síndrome de Urbach-Wiethe com manifestações típicas, inclusive oculares. Paciente do sexo feminino, 15 anos, com quadro de prurido ocular relacionado à presença de lesões papuliformes em margens palpebrais (blefarose moniliforme), em associação com outras alterações sistêmicas. O diagnóstico foi confirmado por meio de biópsia cutânea e foi instituído uso de lágrimas artificiais, com alívio parcial do sintoma. O objetivo do trabalho é relatar um caso com manifestações características da doença atendido no Setor de Oftalmologia da Faculdade de Medicina de Marília.We present a case of Urbach-Wiethe syndrome with typical findings, including ocular lesions. A 15-year-old girl was referred to our department complaining of itchy eyelid lesions (moniliform blepharosis) associated with other systemic manifestations. Diagnosis was confirmed by performing skin biopsy. Artificial tears were prescribed, with partial relief of the symptom. The objective of the present study is to describe a typical case of Urbach-Wiethe syndrome attended at the Ophthalmologic Sector of the Medical School of Marília.

To report and summarize eye manifestations of patients with perinuclear pattern antineutrophil cytoplasmic antibody [pANCA, myeloperoxidase (MPO)-ANCA]-associated vasculitis.The medical records of four consecutive patients with pANCA (MPO-ANCA) vasculitis who showed eye manifestations were retrospectively reviewed. In addition, the medical literature databases, PubMed and Japana Centra Revuo Medicina for Japanese literature, were searched for pANCA vasculitis patients with eye manifestations.Three of the four patients treated at the Okayama University Hospital showed unilateral or bilateral scleritis. In the literature review, eight of the 27 patients showed ocular surface manifestations such as scleritis and peripheral keratitis. Other frequent eye presentations were posterior segment manifestations such as central or branch retinal vein occlusion, optic neuropathy, and acute posterior multifocal placoid pigment epitheliopathy (APMPPE). Systemically, the most frequent manifestations were glomerulonephritis in the present patients as well as in the patients reported in the past studies.Ocular surface manifestations and posterior segment manifestations were major eye presentations in patients with pANCA-associated vasculitis. ANCA testing including both pANCA and cytoplasmic pattern antineutrophil cytoplasmic antibody would help establish a systemic diagnosis in patients with eye manifestations such as scleritis, retinal vein occlusion, optic neuropathy, or APMPPE.

OBJETIVO: Avaliar as condições oftalmológicas atuais de pacientes com síndrome da imunodeficiência adquirida (SIDA), previamente avaliados por oftalmologista, levando em consideração algumas características gerais relacionada com essa doença. MÉTODOS: Estudo observacional de 42 pacientes com SIDA, subdivididos em dois grupos: Grupo I: 8 pacientes com SIDA e diagnóstico prévio de retinite por citomegalovírus; Grupo II: 34 pacientes com SIDA sem retinite por citomegalovírus. Os dados gerais relacionados com a SIDA foram obtidos pela análise dos prontuários médicos. RESULTADOS: A maioria dos pacientes apresentou acuidade visual no melhor olho entre logMAR 0,0 (68,3%) e 0,1 (26,9%). Prescrição óptica para longe beneficiou 39,4% dos pacientes do Grupo II mas nenhum dos paciente do Grupo I. Presbiopia foi corrigida em 27,3% no Grupo II e 12,5% no Grupo I. Não foram encontradas manifestações oculares atuais relacionadas a SIDA em nenhum dos grupos. As alterações fundoscópicas encontradas em 10 pacientes foram todas alterações cicatriciais de retinite/retinocoroidite, sendo 7 (16,7%) pacientes pertencentes ao Grupo I e 3 (7,1%) pacientes pertencentes ao Grupo II. CONCLUSÃO: Dez (24,4%) pacientes apresentaram alteração visual decorrente do envelhecimento. Com exceção dos pacientes com cicatrizes prévias de retinite ou retinocoroidite, todos os outros participantes estavam em boas condições oftalmológicas e a maioria dos mesmos se encontrava em recuperação imunológica, devido ao uso da terapia anti-retroviral de alta potência.PURPOSE: To evaluate the ophthalmologic conditions of patients with AIDS, with long-term follow-up, previously evaluated by an ophthalmologist, considering general conditions related with AIDS. METHODS: Observational study of 42 patients with AIDS divided into two groups: Group I: 8 patients with previous AIDS-related cytomegalovirus retinitis, Group II: 34 patients with AIDS without cytomegalovirus retinitis. Each patient had been submitted to one ophthalmologic examination. General data of the patients were obtained from the medical records. RESULTS: The majority of the patients presented visual acuity in the best eye between logMAR 0.0 (68.3%) and 0.1 (26.9%). Optic prescription for refractive errors benefited 39.4% of the patients in Group II but none of the patients in Group I. Presbyopia was corrected in 27.3% of Group II and in 12.5% of Group I patients. No current ocular AIDS-related manifestations were detected in any group. Ocular posterior segment alterations, all of them consisting of retinitis / retinochoroiditis scars, were found in 10 patients, 7 (16.7%) belonging to Group I and 3 (7.1%) to Group II. CONCLUSION: Ten (24.4%) patients presented visual alteration due to age. Except for the patients presenting previous retinitis and retinochoroiditis, all the other patients were in good ophthalmic conditions and most of them were in immunologic recovery due to the use of highly active antiretroviral therapy.

Descrição de um caso da síndrome de displasia ectodérmica, ectrodactilia e fissura lábio-palatal (EEC), doença rara com importante acometimento ocular. Paciente de 26 anos, com queixa de dor, fotofobia e baixa acuidade visual no olho esquerdo há três dias, submetida à investigação genética, após exames físico e oftalmológico completos. Foi diagnosticado síndrome EEC e identificadas todas as alterações sistêmicas e oculares. Apresentava uma úlcera paracentral estéril no olho esquerdo, com dificuldades de cicatrização devido às alterações oculares próprias da síndrome (alteração do filme lacrimal, triquíase, ausência de glândulas de Meibomius, entre outras). Foi feita descrição das alterações oculares nessa síndrome rara, para que haja tratamento preventivo e diminuam os riscos de baixa de acuidade visual em pacientes que recebam esse diagnóstico genético.A case of ectodermal dysplasia, ectrodactyly and clefting syndrome (EEC), a rare disease with an important ocular impairment and with scarce literature. Patient, 26 years old with complaints of pain, with photophobia and low visual acuity in the left eye for three days. The patient was submitted to a genetic investigation after complete physical and ophthalmologic examinations. EEC syndrome was diagnosed and all systemic and ocular modifications identified. The patient presented a scar in the left eye, with difficulties in healing due to ocular damage caused by the syndrome (lack of tear film, trichiasis, Meibomius gland absence, among others). The ocular modifications in this rare syndrome were described in order to institute preventive treatment and to reduce the risks of low visual acuity in patients who receive this genetic diagnosis.

Purpose To determine the prevalence and the pattern of ocular involvement in children with leukemia at the time of diagnosis. Methods The data of patients with leukemia who underwent complete ophthalmic examination at the time of diagnosis between January 2005 and December 2014 were retrospectively reviewed. Demographic data, type of leukemia, ocular findings, blood parameters, and duration of follow-up were analyzed. Results A total of 185 patients (111 male and 74 female) were included in the study, with a median age of 6.0 years (range 0.5-18.0 years) and a median follow-up time of 36.0 months (range 0.5-108.0 months). Ocular signs were present in 24.3% of the patients at the time of diagnosis and 37.8% of them were symptomatic. The prevalence of ocular involvement was 20.4% in patients with acute lymphocytic leukemia (ALL) and 36.4% in patients with acute myelocytic leukemia (AML) (p = 0.051). Fatality rate was significantly higher in subjects with AML compared with ALL (p = 0.019), but was not significantly different between patients with and without ocular involvement (p = 0.166). There were no significant differences in hemoglobin levels, white blood cell counts, or platelet counts between patients with ALL and AML. Platelet counts were significantly lower in patients with ocular signs compared with subjects without ocular involvement (p = 0.012), while hemoglobin levels and white blood cell counts did not differ significantly. Conclusions Various ocular signs may be present at the time of diagnosis in childhood leukemia, even in patients without any symptoms. Routine ophthalmic examination should be performed in recently diagnosed children with leukemia.

Apresentamos o caso de uma paciente de 64 anos, com diagnóstico de artrite reumatóide, apresentando nódulos episclerais bilaterais, sem inflamação articular ativa. A biópsia das lesões revelou presença de granulomas com células epitelióides e fibroblastos em orientação radial à zona central de degeneração necrobiótica do colágeno da episclera e esclera superficial e infiltrados de linfócitos e plasmócitos em todos os níveis da substância própria da conjuntiva. Na literatura reumatológica o desenvolvimento de nódulos reumatóides na ausência de doença articular ativa é chamado de "nodulosis rheumatoidis".A 64-year-old woman with a diagnosis of rheumatoid arthritis developed painless bilateral episcleral rheumatoid nodules without any flareup of her associated disease. Biopsy of the lesions disclosed a lymphocytic and plasmacytic infiltration within the conjunctiva, overlying palisading granulomas with multinucleated giant cells, and central necrobiotic degeneration of the collagen of the episclera and superficial sclera. The rheumatologic designation for the development of groups of nodules in inactive rheumatoid arthritis is rheumatoid nodulosis.

OBJETIVOS: Investigar possíveis alterações oftalmológicas em pacientes que tiveram desnutrição grave durante os primeiros seis meses de vida. MÉTODOS: Foram analisados 182 olhos de 91 crianças entre 2 e 11 anos que tiveram desnutrição grave durante os primeiros seis meses de vida (grupo estudo). Como grupo controle foram incluídas 88 crianças, selecionadas aleatoriamente segundo características similares de idade, gênero, condições econômicas e demográficas. RESULTADOS: Observou-se, de forma significante, no grupo estudo, maior freqüência de crianças com acuidade visual de 0,3 a 0,1 e menor que 0,1 (11,5% versus 0,7% - p < 0,0001). Houve maior freqüência de astigmatismo e miopia no grupo estudo. Observou-se ainda, maior freqüência de astigmatismo de uma dioptria ou mais nesse grupo (p< 0,0001). As alterações fundoscópicas encontradas foram nervo óptico hipocorado (2,2%), aumento da escavação papilar (4,4%), aumento da tortuosidade vascular (6,6%), alteração da cor da retina (13,2%) e atrofia do epitélio pigmentar da retina (12,0%). CONCLUSÕES: Os dados dão suporte ao conceito de que a desnutrição precoce efetivamente interfere na saúde visual dos indivíduos. Estudos futuros são necessários para aprofundar o estabelecimento da relação causa-efeito mais precisa.PURPOSE: To investigate possible ophthalmologic alterations in patients who had severe malnutrition during the first six months of life. METHODS: 182 eyes of 91, 2 to 11-year-old, children who had had severe malnutrition during the first six months of life (study group) were analyzed. As a control group 88 children selected according to similar characteristics of age, gender, demographic and economic conditions were included. RESULTS: In the study group, a higher frequency of children with visual acuity from 0.3 to 0.1 and less than 0.1 (11.5% versus 0.7% - p

Background: Microscopic polyangiitis (mPA) is one of the ANCA-associated primary systemic vasculitides. It is defined as necrotic vasculitis without granuloma development and without/minimal immunodepots in situ. The clinical picture is characterised by destruction of the small vessels with the main manifestations in the upper and lower respiratory tract, in the lungs and kidneys. The eye manifestations were noted yet not so often. Patient: There were 2 clinical cases, aged 5 -12 years, with primary eye manifestations of the mPA. The initial oedema and the reddening of the lid area were common to all the patients. The diagnostic excisions of the inflammatory tumour of the anterior orbital area have shown histologically vasculitis of the small vessels. mPA was diagnosed by clinical and immunological parameters, including the examination of the respiratory tract and kidneys. Conclusions: In inflammatory orbital pseudotumour, diagnostic excision and evaluation of the immunological parameters are useful for the exclusion of a systemic vasculitis. Proper examinations must be performed to determine other possible organ manifestations. Prognosis is characterised by the severity of kidney involvement. Early immunosuppressive therapy is crucially important for survival prognosis.

Descrevemos 2 casos de coroidopatia lúpica, uma manifestação ocular incomum do lúpus eritematoso sistêmico, caracterizada por elevação serosa do epitélio pigmentário retiniano e/ou retina sensorial e moteamento do epitélio pigmentário.We describe 2 cases of lupus choroidopathy, an unusual ocular manifestation of systemic lupus erythematosus, characterized by serous elevation of the retinal pigment epithelium and/or sensory retina and pigment epithelium mottling.

OBJETIVO: Descrever os sistemas eletrônicos de comunicação utilizados por um paciente com esclerose lateral amiotrófica (ELA) e a doença oftal-mológica apresentada por um grupo de pacientes gravemente incapacitados. A partir deste relato, revisamos as manifestações oftalmológicas da esclerose lateral amiotrófica, os sistemas de comunicação não convencionais e a importância do atendimento domiciliar e da comunicação no tratamento destes pacientes. MÉTODOS: Relato de casos clínicos, descrição de equipamento e revisão da literatura. RESULTADOS: O paciente com esclerose lateral amiotrófica apresentou sintomas de origem bulbar, comprometimento da musculatura respiratória e dos membros, com musculatura ocular extrínseca parcialmente poupada, intelecto e estado de consciência intactos. Utilizando a mobilidade facial e a ocular, equipamento eletrônico e computador, ele conseguiu comunicar-se e trabalhar como desenhista gráfico. Atualmente, o tratamento paliativo recomendado para pacientes crônicos acamados é prestado por equipes multi-profissionais como a Assistência Domiciliar da Unimed-Campinas (ADUC). A doença oftalmológica encontrada neles é diversa. CONCLUSÕES: A esclerose lateral amiotrófica, assim como outras doenças crônicas podem deteriorar drasticamente a qualidade de vida. O seu tratamento e planejamento de custos de longo prazo devem proporcionar a maior autonomia possível, boa comunicação e meio ambiente digno e adequado, visando à saúde física e psicológica dos pacientes e a de seus familiares. O oftalmologista deve estar preparado para formar parte deste atendimento. Medidas simples, como piscar diante uma cartela, ou sofisticadas, como usar computador, são úteis e possibilitaram a "comunicação visual" dos pacientes, isto é, a expressão de idéias e pensamentos mediante os olhos e as pálpebras. PURPOSE: To describe the electronic systems a patient with amyotrophic lateral sclerosis (ALS) uses for communication. To review the ophthalmic manifestations of amyotrophic lateral sclerosis and the importance of vision, ocular motility, communication, and a home care system in the treatment of severely handicapped patients. METHODS: Case series report, description of equipment, and literature review. RESULTS: The patient with amyotrophic lateral sclerosis has bulbar symptoms, deficiency of lung and limb muscles, oculomotor system partially spared, and intellect intact. Using his facial and ocular motility, electronic equipment, and a computer, the patient has achieved close and distant communication, and works as graphic designer. Presently, multiprofessional teams like the home-care system of Unimed-Campinas (ADUC) provide recommended supporting treatment for chronic in-bed patients. A wide range of ophthalmic pathology may be found among these patients. CONCLUSIONS: Amyotrophic lateral sclerosis and other chronic diseases may reduce the quality of life. Treatment and long-term cost management must seek the physical and psychological health of patients and their family, and provide a greater possible autonomy, good communication, and appropriate environment. Ophthalmologists must be prepared to deal with this type of patients. Simple techniques, like blinking in front of a chart, or more sophisticated approaches using a computer are possible and allow patients' "visual communication" (expression of ideas and thinking using eyes and lids).

Background In the past 15 years, a recrudescence of syphilis was observed in Canada, along with a surge in ocular syphilis cases. Without treatment, ocular syphilis can have serious consequences potentially leading to blindness. Our goal was to describe the demographics, clinical presentations, proportion of co-infection with HIV, treatments and visual outcomes of ocular syphilis cases. Methods Patients with a confirmed positive syphilis serology between 2000 and 2015 were identified through the reference laboratory database. A retrospective chart review was performed for those who visited the ophthalmology clinic of Hôpital Maisonneuve-Rosemont or Hôpital Notre-Dame to identify ocular syphilis cases. Results Among the 119 patients (174 eyes) identified (2.5% of the population screened), 80% were male; of which 63% were MSM. Mean presenting logMAR visual acuity was 0.70 (20/100 Snellen) and unilateral ocular involvement occurred in 54%. Ocular manifestations included interstitial keratitis (24 eyes), anterior uveitis (37 eyes), intermediate uveitis (17 eyes), posterior uveitis (31 eyes), panuveitis (27 eyes), isolated optic nerve involvement (25 eyes), and others (12 eyes) including VI nerve palsy, scleritis, and episcleritis. Cerebrospinal fluid (CSF) examination was done in 65 (55%) patients. Of those, VDRL was positive in 14 (22%) patients; white blood cells and proteins were elevated in, respectively, 28 (43%) and 39 (60%) of patients. HIV status was unknown in 39 (33%) patients; among those whose serology were performed (or previous status was known), 38 (48%) were HIV infected. Intravenous aqueous penicillin G was administered in 69 (58%), intramuscular benzathine penicillin in 25 (21%) and other antibiotics, mainly due to allergy, in three (3%) patients. Treatment allowed a visual improvement of –0.22 logMAR (gain of five lines on Snellen chart) after a mean follow-up period of 19 months. Conclusion Syphilis can manifest with a widely diversified array of ocular presentations, especially uveitis and optic nerve involvement. Therefore it is primordial to keep this diagnosis in mind when facing high-risk patients with ocular symptoms. It is of utmost importance that clinicians improve rates of lumbar puncture, HIV screening and intraveinous penicillin treatment when managing ocular syphilis. Disclosures All authors: No reported disclosures.

Background Syphilis is an ulcerative sexually transmitted genital infection caused by Treponema pallidum, which is a member of the order Spirochaetales, family Spirochaetaceae, and genus Treponema. The incidence rate of Syphilis has been steadily rising since 2000; from 2.1 cases per 100,000 population to up to 7.5 cases per 100,000 population in 2014–2015 (the highest rate since 1994). In the state of West Virginia, we have witnessed an increase in the number of cases from 0.5 cases per 100,000 population in 2011, to 5.9 cases per 100,000 population in 2015. Systemic symptoms can include cardiovascular and neurological manifestations. We report to your attention four cases of syphilis mainly with neurological and ocular manifestations. Methods We report a series of four cases of neurosyphilis we encountered between 2013 and 2016. Main presentation of all four cases was ocular; primarily redness and photophobia. Diagnosis was confirmed by standard ophthalmological examination with positive initial rapid plasma regain titers (RPR) and fluorescent treponemal antibody absorption testing (FTA-ABS). The cerebrospinal fluid venereal disease research laboratory test (CSF-VDRL) was positive in two of the four cases (in which lumbar puncture was performed). Two of the four cases suffered from an overt immunodeficiency (HIV and laryngeal cancer on chemotherapy) and subjects of all four cases confessed to high-risk sexual behaviors. All four cases were managed with continuous infusions of Penicillin G potassium 24 million International Units for 14 days with variable response. Results Response to treatment was variable in that initial complete resolution was achieved in one patient (Case #3), another (Case #1) was retreated in 6 months due to rising RPR titers on follow-up with subsequent improvement. Two patients were lost to follow-up (Cases #2 and #4). Conclusion Sir William Osler reportedly said: “He who knows syphilis knows medicine”. The steady rise in the incidence of Syphilis warrants that health care providers consider such a diagnosis in the evaluation of suggestive neurological and ocular manifestations in predisposed patients. We also stress on the importance of follow-up to detect failure of initial treatment. Disclosures All authors: No reported disclosures.

Background Ocular candidiasis is a major complication of candidemia; however, many remains unknown for the incidence, risk factors, and outcome of eye involvement. Methods We retrospectively reviewed the medical records and obtained information related to fungal infection and its management, and visual outcome at Fukuoka University Hospital from 2000 to 2016. Results Of 143 patients with candidemia for whom an ophthalmology consult was requested, 26 had findings consistent with the diagnosis of ocular candidiasis. Patients with ocular candidiasis were mostly infected with Candida albicans (n = 20), followed by C. glabrata (n = 4), and C. tropicalis (n = 2). In contrast, only one patient infected with C. parapsilosis had ocular involvement although the number of the patients with C. parapsilosis candidemia was second the most among candidemia. No difference was seen for the β-d-glucan in patients with or without ocular candidiasis (128.6 vs. 106.1, P = 0.654). All of the isolates other than C. glabrata were susceptible to fluconazole. In all of 23 patients with existing central venous cathers, CVCs were removed after the diagnosis of candidemia. Four-week mortality rate in patients with ocular candidiasis was 16.7% (three of 18 patients) which was not significantly different from that in patients without ocular manifestations. All treated patients were confirmed for clearance of candidemia, received systemic antifungals, and improved for visual outcome or remained stable, and no patients complicated visual loss without surgical treatment. Therapy with micafungin or caspofungin followed by fluconazole (12 patients) was successful in all patients. Conclusion Ocular involvement occurred in 18% of patients with candidemia, and treatment with echinocandins followed by fluconazole was successful in most cases with follow-up. Disclosures T. Takata, Taisho Toyama Pharma: Speaker’s Bureau, Speaker honorarium

Purpose To describe the characteristics and frequency of ophthalmologic findings in patients with Lennox-Gastaut syndrome (LGS). Methods The medical records of patients diagnosed with LGS at Seoul National University Children's Hospital from January 2004 to August 2014 were retrospectively reviewed. The records of 34 patients (mean age ± standard deviation, 2.66 ± 3.51 years; male, 58.8%) were reviewed. The primary measure was the incidence of ophthalmologic manifestations. Results Of the 34 patients, 88.2% had at least one ocular abnormality. Refractive error (52.9%) was the most frequently observed ophthalmologic manifestation in patients with LGS, followed by strabismus (32.4%), cortical visual impairment (23.5%), and retinopathy of prematurity (8.8%). Among these cases, seven patients had exotropia and three had esotropia. Conclusions LGS is a childhood-onset epileptic encephalopathy with variable ophthalmologic manifestations, the most frequent being refractive errors. Patients with suspected LGS should be examined regularly because ophthalmological features can change during their disease course.

Central retinal vein occlusion (CRVO) is a rare complication of scleroderma. Here we report a case of a 30-year-old man who was diagnosed to have scleroderma in the rheumatology and dermatology clinic. During treatment with systemic steroids and immunosuppressive therapy the patient developed a sudden decrease of vision in the right eye and was diagnosed to have right CRVO with macular edema on fundus examination. After three consecutive Intravitreal bevacizumab (IVB) injections for macular edema, best-corrected visual acuity (BCVA) improved from 20/80 to 20/25. All ocular and systemic causes of CRVO other than scleroderma were excluded in our patient by thorough clinical examination and investigations, suggesting that scleroderma was the most possible etiology in his condition.

Although the distinctive and diagnostically valuable signs present in the eyes of patients with symptomatic Wilson disease have been described in specialist journals and in monographs1,2 on this disease, they have received little attention in the general literature. Furthermore, they have not been definitively illustrated. These are the Kayser–Fleischer (KF) rings (Figure 1) and the sunflower cataracts. As a result, many physicians, although they know of such signs, have never seen them or as a result may have missed them when present, as did Wilson3 himself in his original description of the disease which now bears his name. Indeed, for many years he denied that they were related to this condition. The rings were first described by Kayser in 1902 and then by Fleischer in 1909.4,5 The fact that the rings are composed of copper was finally established by Gerlach and Rohsrschneider as late as 1949,6 shortly after Cumings7 had demonstrated that excess copper was deposited in the brains and livers of patients dying of this disease. That the corneal rings were indeed due to copper deposition was confirmed by Sternlieb.8 Originally, it was believed that the presence of such copper containing rings were diagnostic of Wilson disease but in 1975 Fleming and his associates9 were able to show that …

Se estudiaron 27 pacientes con artritis reactiva para determinar su comportamiento clínico. De ellos, 18 pertenecían al sexo masculino. La edad promedio de inicio fue 27,6 años. Se encontraron manifestaciones clásicas como artritis periférica en todos los casos, 20 con toma oligoarticular y 7, poliarticular; las rodillas estuvieron afectadas en el 81,4 % y los tobillos en el 77,7 % de los pacientes. Se hallaron manifestaciones oculares en el 70,3 %, dermatológicas en el 74 % y genitourinarias en el 85,1 % de los casos. Se informó la presencia de fiebre en 22 de los casos, 15 con síndrome febril agudo y 7 con fiebre prolongada. Se determinaron los antecedentes de infección gastrointestinal y genitourinaria en el 55,5 y el 25,9 % de los casos, respectivamente, afectación cardiovascular sólo en 4 casos. Ningún enfermo se asoció a SIDA.27 patients -18 males and 9 females- with reactive arthritis were studied to determine their clinical performance. Their average age was 27.6 years. Classical manifestations sucha as peripheral arthritis were found in all the patients being 20 oligoarticular and 7 polyarticular. Knees were affected in 81.4 % and ankles in 77.7 % of the patients. Eye, dermatologic al and urogenital manifestations occured in 70.3 %, 74 % and 85.1 % of cases respectively. 22 patients were reported to have fever, 15 with acute fever syndrome and 7 with persistent fever. The history of gastrointestinal and urogenital infections were demonstrated in 55.5 % and 25.9 % of cases respectively whereas cardiovascular disorders were found only in four (4) patients. None of them had AIDS.

A rare case of hyperlipropoteinemia in a 35-day-old infant who presented not only high blood levels of cholesterol and triglycerides but also an ocular manifestation described as lipemia retinalis. The fundoscopic abnormality cleared as the levels of chilomicrons in plasma dropped. Lipemia retinalis is an important and reliable parameter of high levels of chilomicrons and triglycerides and should be considered as a significant clue while diagnosing.Caso raro de hiperlipoproteinemia em recém-nascido com 35 dias de idade. Identificados altos níveis de colesterol e triglicérides associados a manifestãção ocular descrita como lipemia retinalis. As alterações oculares mostraram melhora uma vez que os níveis séricos foram controlados. Lipemia retinalis é parâmetro confiável e importante a ser considerado como suspeita de alterações de colesterol e triglicérides em crianças e em adultos.