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Article

Osteoporosis-pseudoglioma syndrome: description of 9 new cases and beneficial response to bisphosphonates.

Bone - 1 Sept 2008

Streeten Elizabeth A, McBride Daniel, Puffenberger Eric, Hoffman Marc E, Pollin Toni I, Donnelly Patrick, Sack Paul, Morton Holmes

Abstract excerpt

Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal recessive disorder of severe juvenile osteoporosis and congenital blindness, due to mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene. Approximately fifty cases of OPPG have been reported. We report 9 new cases of OPPG, in three related nuclear families of Conservative Mennonites in Pennsylvania. All 9 children with OPPG...

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Source

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Identifiers

PMID: 18602879
DOI: 10.1016/j.bone.2008.04.020
PMCID: PMC2935289

Genes

LRP5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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