Ocular manifestations in Kniest syndrome,Smith-Lemli-Opitz syndrome,Hallermann-Streiff-François syndrome,Rubinstein-Taybi syndrome and median cleft face syndrome

In the pathology of malformations it is only in very few cases possible to identify a complete syndromal picture; the authors present some multimalformative syndromes, observed in the past few years at the Department of Pediatric Ophthalmology of the University of Siena. The ocular findings are reported and discussed in relation with the general features in order to make a correct diagnosis.     

视屏终端综合征与干眼症关系的研究

目的:研究视屏终端综合征(visual display terminal,VDT)与干眼症的关系,并分析视屏操作时间对它的影响。方法:对符合干眼诊断标准的60例VDT患者进行问卷调查和眼科常规检查,作为可疑干眼的观察组,取年龄与之匹配的正常患者60例作为对照组,分别做基础泪液分泌试验(schimerⅠtest,SⅠt)、泪膜破裂时间检查(break uptime,BUT)、角膜荧光素染色(fluorescent,FL)、结膜细胞印迹学检查(impression cytology,IC),分析观察组的症状、病因进行分析。结果:观察组比对照组SⅠt试验,BUT,IC均显著降低,观察组症状的严重程度与每日VDT操作时间有显著性差异。结论:VDT是干眼的相关危险因素,且VDT的症状严重程度与VDT使用电脑时间相关。     

Atypical association of Duane retraction syndrome and Bardet Biedl syndrome

Duane's retraction syndrome (DRS) includes changes in palpebral fissure width along with restriction of ocular motility. Bardet Biedl syndrome (BBS) includes presence of retinitis pigmentosa (RP) with obesity, mental retardation, polydactyly and renal abnormalities. We report a case of rare association of DRS with BBS in a seven-year-old child. The ocular motility examination revealed left DRS with esotropia. Fundus examination revealed findings characteristic of an atypical retinitis pigmentosa. The electro-retinogram waveforms were extinguished both for rods and cones. He was diagnosed as a case of BBS on the basis of the ophthalmological findings plus association with the systemic features of obesity, polydactyly, hypogonadism, mental retardation and renal abnormalities. This case gives further evidence of the fact that BBS may be associated with abnormalities of eye movements.     

Vogt-Koyanagi-Harada syndrome and pregnancy

Two black women had bilateral anterior and posterior uveitis, nonrhegmatogenous retinal detachments, pleocytosis, headaches, dysacousis, and alopecia. These patients with Vogt-Koyanagi-Harada (VKH) syndrome improved clinically while they were pregnant after the discontinuation of corticosteroid treatment. They developed recurrent symptoms and findings after termination of their pregnancies. We speculate that changes in immunity and humoral constituents during pregnancy account for their remissions. It is important to assess the menstrual history and to avoid pregnancy before initiating steroid treatment for VKH syndrome.     

Papilloedema and POEMS syndrome

POEMS syndrome stands for the first letter of the words: polyneuropathy (P), organomegaly (O), endocrinopathy (E), monoclonal component (M), changes of the tegument (S-skin). In 33-84% of the cases, chronic bilateral papilloedema is associated with the syndrome. The disease is a multisystem disorder, a plasma cell dyscrasia being present, often associated with Castleman disease. Inflammatory cytokines, endothelial vascular growth factor and human herpes virus-8 are thought to play an important role in pathogenesis. This summary is about a 16 year old female patient, where the diagnosis of POEMS syndrome was elaborated based on the systematization of the clinical symptomatology, developed over a long period of time. Based on the latest data from literature, peculiarities of diagnosis, pathogenesis and therapy of the disease are being discussed.     

Eales' syndrome and hypereosinophilia

Authors report one case of a non typical Eales' disease associated to an hypereosinophily. None etiology was found nosology and physiopathology of Eales' syndrome and Eales' disease are still unclear. Main element of diagnosis is the discovery of a general pathology.