Blue sclerae can occur with genetic and nongenetic/acquired conditions.
The blue or bluish gray color occurs because the vascularity of the subjacent uvea can be seen through a sclera that is thin and translucent. These changes are due to reduced and/or defective collagen.
A healthy newborn may have a mildly blue sclera. This may last until the age of 6 years.
Genetic disorders that may be associated with blue sclerae include:
4q31.1-21.1 deletion
Aarskog
Alazama
Alkaptonuria
Alport
Atelosteogenesis type 2
Auriculo-osteodysplasia
Baller-Gerold
Brittle cornea types 1 and 2
Chromosome 16p13.3 duplication
Cleidocranial dysplasia
Cole-Carpenter
Cornelia de Lange
Costello
Crouzon
Cutix lax types 1A and 2B and 3A
Dubowitz
Dysosteosclerosis
Ehlers-Danlos type 1
Focal dermal hypoplasia
Goldberg-Shorintzen
Grange
Grant
Hallermann-Strieff
Hypophosphatasia, chidlhood
Incontinenti pigmenti
Insulin-like growth factor 1 resistance
Kabuki
Keratoconus
Laron
Loeys-Dietz type 1
Marfan
Marshall-Smith
Marshall-Stickler
Melnick-Needles
Mental retardation with UBE2 A deficiency
Mevalonic aciduria
Nevus depigmentation
Osteogenesis imperfecta type 1
Osteoporosis-pseudoglioma
Pelvic hypoplasia with lower limb arthrogryposis
Phakomatosis pigmentovascularis
Phosphatidylinositol glycan anchor biosynthesis class O protein
Primary congenital glaucoma
Proteus
Pseudoxanthoma elasticum
Pycnodysostosis
Roberts
Sanjad-Sakati
Silver-Russell
Spondyloepimetaphyseal dysplasia with joint laxity
Trisomy 18
Turner
Velocardiofacial
Unnamed syndromes, multiple
