Two Sisters with Congenital Blindness caused by Osteoporosis‐pseudoglioma Syndrome due to new Mutations in the LPR5 Gene
Purpose To discover the reason behind two sisters being born blind with retinal detachment and microphthalmia with later findings of severe osteoporosis with low impact fractures. Methods Molecular testing identified biallelic lipoprotein receptor‐related protein 5 (LRP5) mutations (NM_002335.3:c. [...
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Published in: | Acta ophthalmologica (Oxford, England) Vol. 93; no. S255 |
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Main Authors: | , , , , |
Format: | Journal Article |
Language: | English |
Published: |
Malden
Wiley Subscription Services, Inc
01-10-2015
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Subjects: | |
Online Access: | Get full text |
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Summary: | Purpose
To discover the reason behind two sisters being born blind with retinal detachment and microphthalmia with later findings of severe osteoporosis with low impact fractures.
Methods
Molecular testing identified biallelic lipoprotein receptor‐related protein 5 (LRP5) mutations (NM_002335.3:c. [889dupA]; [2827 + 1G4A]) confirming a diagnosis of osteoporosis–pseudoglioma (OPPG) syndrome.
Results
Two new mutations in the LPR5 gene were each found in the unrelated parents of the girls and were found heterozygote in the girls. Both parents were then discovered to have osteopenia, as did several relatives, who all started preventive treatment.
Conclusions
OPPG is a autosomal recessive disease almost uniformly causing blindness from very early age with severe osteoporosis and low impact fractures, which was also the case of our two sisters. The diagnosis of OPPG was confirmed by sequencing the LPR5 gene, where two new mutations were found. |
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ISSN: | 1755-375X 1755-3768 |
DOI: | 10.1111/j.1755-3768.2015.0628 |