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.

小肠病是影响鞭毛内运输的广泛而异质的疾病。其中，Mainzer-Saldino综合征（MSS）表现为指骨锥形骨epi，肾脏疾病和视网膜受累。身材矮小，小脑性共济失调和肝纤维化也可能被发现。

IFT140是MSS中最常报告的突变。我们将报告因IFT144功能障碍而临床诊断为Mainzer-Saldino综合征的患者的病例。此突变以前与MSS无关，但已在其他纤毛病以及症状性和非综合征性色素性视网膜炎中发现。

出生时，我们的患者表现为三角脑畸形，需要进行移植的早期进行性肾衰竭，肝内胆管扩张，圆锥状骨,、生长迟缓和色素性视网膜炎伴轻度眼科损伤。

最佳矫正视力达到0.15 / 0.22 LogMAR。后极表现为黄斑反射异常，周围血管轻度减弱，色素沉着弥漫性改变。自体荧光显示牛眼信号增加。电脑断层摄影术评估了黄斑中心黄斑中没有外部视网膜层。

总之，IFT144基因研究可能参与了MSS，因此必须考虑进行诊断。尽管在这种情况下发现了MSS背景下的早期色素性视网膜炎，但仍存在轻度眼科症状，这是由IFT144突变引起的。