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Abstract：
Ciliopathies are a wide and heterogeneous group of diseases affecting intraflagellar transport. Among them, Mainzer-Saldino syndrome (MSS) shows phalangeal cone-shaped epiphysis, renal disease and retinal involvement. Short stature, cerebellar ataxia and hepatic fibrosis might also be found. IFT140 is the most commonly reported mutation in MSS. We will report on the case of a patient with a clinical diagnosis of Mainzer-Saldino syndrome due to IFT144 dysfunction. This mutation has not been previously related to MSS but it has been found in other ciliopathies and both syndromic and non-syndromic retinitis pigmentosa. At birth our patient showed trigonocephaly, early progressive renal failure requiring transplant, intrahepatic biliary duct dilation, cone-shaped epiphyses, growth retardation and retinitis pigmentosa with mild ophthalmic impairment. The best corrected visual acuity reached 0.15/0.22 LogMAR. The posterior pole showed abnormal macular reflex, mild vascular attenuation in the periphery and diffuse pigmentary changes. Autofluorescence showed bull\'s eye signal increase. Computerized optic tomography assessed the absence of external retinal layers in the extrafoveal macula. In conclusion, IFT144 genetic study may be involved in MSS and thus must be considered for diagnosis. Mild ophthalmic symptomatology despite early onset retinitis pigmentosa in the context of MSS has been found in this case caused by IFT144 mutation.
摘要：
纤毛病是一组广泛且异质的疾病，会影响绒毛内运输。其中,Mainzer-Saldino综合征（MSS）显示指骨锥形骨phy，肾脏疾病和视网膜受累。身材矮小,也可能发现小脑共济失调和肝纤维化。IFT140是MSS中最常见的突变。我们将报告一例因IFT144功能障碍而临床诊断为Mainzer-Saldino综合征的患者。这种突变以前与MSS无关，但已在其他纤丝病以及综合征性和非综合征性色素性视网膜炎中发现。我们的病人出生时表现出三角头,早期进行性肾衰竭需要移植，肝内胆管扩张，圆锥形的骨phy，生长迟缓和色素性视网膜炎伴轻度眼部损害。最佳矫正视力达0.15/0.22LogMAR。后极显示异常黄斑反射，周围轻度血管衰减和弥漫性色素变化。自体荧光显示牛眼信号增加。计算机光学层析成像评估了外凹黄斑中没有外部视网膜层。总之,IFT144基因研究可能涉及MSS，因此必须考虑诊断。在这种情况下，已经发现了由IFT144突变引起的，尽管在MSS的背景下早发性视网膜色素变性，但轻度的眼科症状。
