Avatar universal

blue sclera

my three children have blue tinged sclera.  My eldest also has a duplex kidney system with urinary reflux and uretrocele, she also has hypermobility.  My youngest has a thickened filum terminal  and is awaiting surgery for a tethered spinal cord.  Her blueness is more prominant than the other two girls.  I am wondering whether this blueness is an indicator of anything i should be getting checked out or whether I should not be worrying about it.  
2 Responses
517208 tn?1211640866
Dear evo123,
There are genetic abnormalities associated with blue sclera and might represent Ehler-Danlos syndrome.  This can be autosomal recessive and involve abnormalities in the gene for lysyl hydroxylase.  I would definitely recommend evaluation by an eyeMD as well as geneticist to determine the defect.  Another condition, it can be associated with corneal condition known as keratoglobus, joint hyperextensibility and blue sclera but normal lysyl hydroxylase.

Dr. Feldman

Sandy T. Feldman, M.D., M.S.
ClearView Eye and Laser Medical Center
San Diego, California
Avatar universal
Many thanks for your reply I will get this looked into.


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