Osteoporosis-pseudoglioma syndrome

Paolo Maltese, Lucia Ziccardi, Giancarlo Iarossi, Elena Gusson, Leonardo D’Agruma, Giorgio Marchini, Luca Buzzonetti, Annalisa Nicoletti, Sabrina Benedetti, Matteo Bertelli

Research output: Contribution to journalArticlepeer-review


Background: Osteoporosis-pseudoglioma syndrome is a very rare disease mainly characterized by severe eye abnormalities and osteoporosis but also causing a broader range of clinical features. The syndrome is associated with homozygous or compound heterozygous variations in the LRP5 gene. In this report, we describe two children with a severe early-onset form of familial exudative vitreoretinopathy associated with skeletal abnormalities. Materials and methods: Two probands (4 and 7 years of age respectively) and their parents were assessed by genetic analysis and comprehensive ophthalmic examination. Results: In both probands, the diagnosis of osteoporosis-pseudoglioma syndrome was confirmed by detection of three new pathogenic LRP5 variants: p.(Asp379Asn), found in the homozygous state in one proband, and p.(Asp203Ala) in the compound heterozygous state with p.(Cys612Valfs*25) in the other. The clinical and genetic study was extended to their parents, confirming that heterozygous carriers may also have incomplete clinical manifestation of this syndrome. Conclusions: To our knowledge, these are the first two cases of the syndrome described in Italy. Genetic testing proved to be fundamental for definition of the syndrome and confirms the importance of early detection of LRP5 variants for management of systemic features of the disease in patients and carrier relatives.
Original languageEnglish
Pages (from-to)473-479
Number of pages7
JournalOphthalmic Genetics
Issue number5
Publication statusPublished - Sep 3 2017


  • Familial exudative vitreoretinopathy
  • LRP5 gene
  • osteoporosis-pseudoglioma syndrome


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