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

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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.

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Author information

Authors and Affiliations

  1. Department of Medical Genetics, Nizam’s Institute of Medical Sciences, Punjagutta, Hyderabad, Telangana, 500 082, India

    Karthik B. Tallapaka & Prajnya Ranganath

  2. Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India

    Ashwin Dalal

Authors
  1. Karthik B. Tallapaka
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  2. Prajnya Ranganath
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  3. Ashwin Dalal
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Corresponding author

Correspondence to Prajnya Ranganath.

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Tallapaka, K.B., Ranganath, P. & Dalal, A. Variable expressivity and response to bisphosphonate therapy in a family with osteoporosis pseudoglioma syndrome. Indian Pediatr 54, 681–683 (2017). https://doi.org/10.1007/s13312-017-1134-y

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  • DOI: https://doi.org/10.1007/s13312-017-1134-y

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