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Article

Three years follow-up of pamidronate therapy in two brothers with osteoporosis-pseudoglioma syndrome (OPPG) carrying an LRP5 mutation.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Aug 2008

Barros Elizabete Ribeiro, Dias da Silva Magnus R, Kunii Ilda S, Lazaretti-Castro Marise

Abstract excerpt

UNLABELLED: Osteoporosis-pseudoglioma (OPPG) is a rare syndrome characterized by severe osteoporosis and ocular defects caused by homozygotic inactivation mutations in the LRP5 gene. Bisphosphonate has been demonstrated to improve bone mineral density (BMD) in children with OPPG. We present here a 3 years follow-up of two brothers with OPPG carrying a novel mutation in the LRP5 gene, who were treated with...

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Source

Identifiers

PMID: 18825883
DOI: 10.1515/jpem.2008.21.8.811

Genes

LRP5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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