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.