Variable expressivity and response to bisphosphonate therapy in a family with osteoporosis pseudoglioma syndrome View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2017-08

AUTHORS

Karthik B. Tallapaka, Prajnya Ranganath, Ashwin Dalal

ABSTRACT

BACKGROUND: Osteoporosis pseudoglioma syndrome (OPPGS) is a rare autosomal recessive genetic disorder characterised by congenital blindness and osteoporosis, caused by biallelic mutations in the LRP5 gene. CASE CHARACTERISTICS: A consanguineous family with four OPPGS-affected members with variable expressivity. OBSERVATION: A novel homozygous missense pathogenic variant (c.3709C>T) was identified in the LRP5 gene. Good response to biphosphonate therapy was observed in all affected members. Message: This case highlights the importance of screening for osteopenia in a case of familial exudative retinopathy, for early institution of bisphosphonate therapy. More... »

PAGES

681-683

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s13312-017-1134-y

DOI

http://dx.doi.org/10.1007/s13312-017-1134-y

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1091214004

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/28891484


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