El secreto que revelan los ojos. Compromiso ocular como manifestación de enfermedades sistémicas no infecciosas / The secret revealed by the eyes. Ocular involvement as a manifestation of non-infectious systemic diseases

La coroides es el tejido ocular más comúnmente afectado por la enfermedad metastásica debido a su abundante vascularización y, en ocasiones, la primera manifestación (44-70% según las series) de cáncer de pulmón en hombres o de cáncer de mama en mujeres (3%). Síntomas oculares de inicio abrupto en pacientes jóvenes y signos al examen oftalmológico como engrosamiento de la pared posterior o lumpy-bumpy surface, entre otros, son orientativos. La uveítis anterior granulomatosa, la uveítis intermedia bilateral, la panuveitis bilateral o las lesiones granulomatosas a nivel coroideo o del nervio óptico se consideran indicativas de sarcoidosis en presencia de un cuadro radiológico compatible. Estas pueden preceder a los signos sistémicos en un 30% de los casos. Se presentan tres pacientes con signos y síntomas oftalmológicos que precedieron al diagnóstico de enfermedades sistémicas no infecciosas.

The choroid is the ocular tissue most commonly affected by metastatic disease due to its abundant vascularization and is sometimes the first manifestation (44-70% depending on the series) of lung cancer in men or breast cancer in women (3%). Abrupt-onset ocular symptoms in young patients and signs on ophthalmological examination such as thickening of the posterior wall, "lumpy-bumpy surface", among others, are indicative. Granulomatous anterior uveitis, bilateral intermediate uveitis, bilateral panuveitis or granulomatous lesions at the choroidal or optic nerve level are considered indicative of sarcoidosis in the presence of a compatible radiological picture. These may precede systemic signs in 30% of cases. We present 3 patients with ophthalmological signs and symptoms that preceded the diagnosis of non-infectious systemic diseases.

Sarcoidosis Mimicking Skull Base Meningioma

Sarcoidosis is a systemic disease characterized by granulomatous inflammation. Pulmonary and lymphatic granulomatous involvement are common.We present a rare case report of involvement of the central nervous system affecting the ocular region and mimicking optic nerve sheath meningioma. We report the case of a 79-year-old female patient with progressive visual impairment with an evolution of 4 years. Amagnetic resonance imaging scan of the cranium with gadolinium and intense homogeneous contrast enhancement revealed an expansive lesion in the right optic nerve, at the height of the optic canal. The patient was submitted to the neurosurgical approach with lesion biopsy, which showed sarcoidosis of the central nervous system. Due to the rarity of central nervous system involvement, the diagnosis of this pathologymay unfortunately be postponed. The present article aims to elucidate this pathology as a differential diagnosis of retro-orbital tumors.

Familial Blau syndrome:First molecularly confirmed report from India

Blau syndrome (BS) is a rare autoinflammatory disorder characterized by the clinical triad of arthritis, uveitis, and dermatitis due to heterozygous gain-of-function mutations in the NOD2 gene. BS can mimic juvenile idiopathic arthritis (JIA)-associated uveitis, rheumatoid arthritis, and ocular tuberculosis. We report a family comprising a mother and her two children, all presenting with uveitis and arthritis. A NOD2 mutation was confirmed in all the three patients – the first such molecularly proven case report of familial BS from India.

Sarcoidose ocular: a nossa realidade nos últimos seis anos / Ocular sarcoidosis: our reality for the past six years

RESUMO Introdução: Na sarcoidose, as manifestações oculares são comuns e podem constituir a manifestação inicial da doença ou mesmo a única. O objetivo deste trabalho foi analisar os parâmetros demográficos, manifestações clínicas, terapêutica e principais complicações oculares em doentes com sarcoidose ocular. Métodos: Estudo descritivo e retrospectivo que incluiu doentes com o diagnóstico de sarcoidose ocular, observados nas consultas de Inflamação Ocular e de Doenças Auto-Imunes do Hospital Prof. Doutor Fernando Fonseca, no período entre 2009 e 2015. Resultados: Foram identificados 11 doentes com o diagnóstico de sarcoidose ocular, com predomínio do sexo feminino (54,5%) e caucasianos. A média da idade ao diagnóstico foi de 45±14 anos. A sarcoidose manifestou-se de forma exclusivamente ocular em 36% dos casos. O envolvimento ocular foi a manifestação inicial em 90,9% dos casos. Identificaram-se 9 casos de uveíte, 1 de esclerite anterior nodular e 1 de queratite intersticial. O tratamento com corticoterapia tópica foi realizado em 100% dos casos, sendo o tratamento único em apenas 1 doente. Nos restantes, foi necessário associar corticoterapia oral. Em 4 desses doentes, pela gravidade da doença e atingimento binocular, utilizou-se também corticoterapia pulsada endovenosa. O tratamento adjuvante imunossupressor mais frequentemente utilizado foi o metotrexato (45%). Um doente necessitou de terapia biológica com infliximabe para controle da doença. Conclusão: A manifestação ocular mais comum foi a uveíte, com predomínio da panuveíte. O tratamento mais utilizado e com maior taxa de controle da doença foi a corticoterapia sistêmica em associação com o metotrexato.

ABSTRACT Purpose: In sarcoidosis, ocular manifestations are common and can be the initial or even the only clinical manifestation. The aim of this study was to analyze the demographic parameters, clinical manifestations, treatment and the major ocular complications in patients with ocular sarcoidosis. Methods: We conducted a descriptive and retrospective study that included patients with the diagnosis of ocular sarcoidosis, followed by inflammatory ophthalmology and immune-mediated disease consults at the Prof. Doutor Fernando Fonseca Hospital, between 2009 and 2015. Results: Eleven patients with the diagnosis of ocular sarcoidosis were identified, with a predominance of females (54,5%) and Caucasians. The average age at diagnosis was 45 ± 14 years. Sarcoidosis was exclusively ocular in 36%. The first manifestation of sarcoidosis was eye disease in 90.9 % of cases. Nine cases of uveitis, one of nodular scleritis and one of interstitial keratitis were observed. Topical corticoid treatment was applied in 100% of cases, with only one achieving remission of the disease. Oral corticoid treatment was necessary in 10 cases, four of which needed a high dose methylprednisolone induction. Methotrexate was the adjunctive immunosuppressive treatment of choice in 45% of cases. There was one refractory case for conventional immunosuppressive therapy, having achieved remission with biologic agent infliximab. Conclusion: Uveitis was the commonest ocular manifestation, and there was a predominance of panuveitis. Systemic corticoid and methotrexate were the most used immunosuppressive treatments for maintaining the controlled stated of the disease.

A Case of Isolated Orbital Sarcoidosis

PURPOSE: The authors report a case of orbital sarcoidosis without evidence of systemic involvement. CASE SUMMARY: A 33-year-old female had a 1 month history of erythematous eyelid swelling. On physical examination, a firm and non-tender mass was observed diffusely along the upper, lower and medial canthal areas. A computed tomography (CT) scan showed a diffuse mass in the anterior orbit. We performed an incisional biopsy and histopathological examination revealed non-caseating granulomas and no evidence of a foreign body. Acid-fast-bacilli (AFB), methenamine silver and periodic-acid-schiff (PAS) stain showed no evidence of infection and chest radiograph was normal. Polymerase chain reaction (PCR) and interferon gamma secretion test showed no evidence of tuberculosis. Antinuclear antibody (ANA) and antineutrophil cytoplasmic antibody (ANCA) were negative and angiotensin converting enzyme (ACE) was within the normal range. Further systemic evaluations were compatible with a diagnosis of orbital sarcoidosis and oral prednisone was prescribed. Six weeks later, the erythematous eyelid swelling had disappeared and there was no evidence of recurrence to date.

Ocular Sarcoidosis in a Korean Population

The aim of current study was to evaluate the incidence and characteristics of ocular sarcoidosis in a Korean population. We conducted a retrospective study of 104 consecutive patients with biopsy-proven sarcoidosis seen at Asan Medical Center in Seoul, Korea, from 1993 to 2007. Medical records, photographs, and fluorescein angiograms were reviewed. Of 104 patients, 22 (21%) had intraocular involvement with female predominance (86%, M:F=3:19). Of the 39 eyes with ocular involvement, 16 (41%) eyes had isolated anterior uveitis, 12 (31%) eyes had intermediate uveitis, 6 eyes (15%) had panuveitis with retinal vasculitis, and 5 (13%) eyes had panuveitis with punched multifocal choroiditis. Mean duration of ophthalmologic follow-up was 62 months. All ocular inflammation was well managed with topical steroid and/or systemic steroid with relatively good final visual outcomes. Ocular complications such as cataract (12 eyes, 30%), glaucoma (6 eyes, 15%), vitreous opacity (1 eye, 3%), cystoid macular edema (3 eyes, 7%), neovascularization (2 eye, 5%), and epiretinal membrane (4 eye, 10%) were related to ocular sarcoidosis. In Korea, where sarcoidosis is very rare, our study indicates relatively low ocular and predominantly non posterior segment involvement with relatively good visual prognosis.

Ocular Sarcoidosis in a Korean Population

The aim of current study was to evaluate the incidence and characteristics of ocular sarcoidosis in a Korean population. We conducted a retrospective study of 104 consecutive patients with biopsy-proven sarcoidosis seen at Asan Medical Center in Seoul, Korea, from 1993 to 2007. Medical records, photographs, and fluorescein angiograms were reviewed. Of 104 patients, 22 (21%) had intraocular involvement with female predominance (86%, M:F=3:19). Of the 39 eyes with ocular involvement, 16 (41%) eyes had isolated anterior uveitis, 12 (31%) eyes had intermediate uveitis, 6 eyes (15%) had panuveitis with retinal vasculitis, and 5 (13%) eyes had panuveitis with punched multifocal choroiditis. Mean duration of ophthalmologic follow-up was 62 months. All ocular inflammation was well managed with topical steroid and/or systemic steroid with relatively good final visual outcomes. Ocular complications such as cataract (12 eyes, 30%), glaucoma (6 eyes, 15%), vitreous opacity (1 eye, 3%), cystoid macular edema (3 eyes, 7%), neovascularization (2 eye, 5%), and epiretinal membrane (4 eye, 10%) were related to ocular sarcoidosis. In Korea, where sarcoidosis is very rare, our study indicates relatively low ocular and predominantly non posterior segment involvement with relatively good visual prognosis.