Pubblicazioni

Autori:

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

Titolo:

Osteoporosis-pseudoglioma syndrome: Report of two cases and a manifesting carrier

Anno:

2017

Tipologia prodotto:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Lingua:

Inglese

Formato:

A Stampa

Referee:

Sì

Nome rivista:

OPHTHALMIC GENETICS

ISSN Rivista:

1381-6810

N° Volume:

38

Numero o Fascicolo:

5

Intervallo pagine:

473-479

Parole chiave:

familial exudative vitreoretinopathy; LRP5 gene; osteoporosis-pseudoglioma syndrome

Breve descrizione dei contenuti:

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.

Pagina Web:

https://dx.doi.org/10.1080/13816810.2016.1253107

Id prodotto:

99063

Handle IRIS:

11562/969257

ultima modifica:

13 novembre 2022

Citazione bibliografica:

Maltese, Paolo; Ziccardi, Lucia; Iarossi, Giancarlo; Gusson, Elena; D'Agruma, Leonardo; Marchini, Giorgio; Buzzonetti, Luca; Nicoletti, Annalisa; Benedetti, Sabrina; Bertelli, Matteo, Osteoporosis-pseudoglioma syndrome: Report of two cases and a manifesting carrier «OPHTHALMIC GENETICS» , vol. 38 , n. 5 , 2017 , pp. 473-479

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