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Updated: Feb 23, 2026
Models of Bone Metastasis
Published on: September 4, 2012
Variable Expressivity and Response to Bisphosphonate Therapy in a Family with Osteoporosis Pseudoglioma Syndrome
Karthik B Tallapaka1, Prajnya Ranganath, Ashwin Dalal
1Department of Medical Genetics, Nizam's Institute of Medical Sciences; and *Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics; Hyderabad, Telangana, India. Correspondence to: Dr Prajnya Ranganath, Head, Department of Medical Genetics, Nizam's Institute of Medical Sciences, Punjagutta, Hyderabad, Telangana 500 082, India. prajnyaranganath@gmail.com.
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.
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