Blue sclera due to stretched out sclera allowing underlying dark choroid to be seen. [TABLE] [TR] [TD="class: data, align: right"] Differentials[/TD] [/TR] [TR] [/TR] [/TABLE] [HR][/HR] [TABLE="width: 100%"] [TR] [TD] 1. Associated with high urine excretion A. Folling syndrome (phenylketonuria) B. Hypophosphatasia (phosphoethanolaminuria) C. Lowe syndrome (oculocerebrorenal syndrome; chondroitin-4-sulfate-uria) 2. Associated with skeletal disorders A. Brachmann-de Lange syndrome B. Brittle cornea syndrome (blue sclera syndrome)-recessive C. Crouzon disease (craniofacial dysostosis) D. Hallermann-Streiff syndrome (dyscephalia mandibulooculofacial syndrome) *E. Marfan syndrome (dystrophia mesodermalis congenita) F. Marshall-Smith syndrome G. McCune-Albright syndrome (fibrosus dysplasia) H. Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) I. Osteogenesis imperfecta (van der Hoeve syndrome) J. Paget syndrome (osteitis deformans) K. Pierre Robin syndrome (micrognathia-glossoptosis syndrome) L. Robert syndrome M. Silver-Russell syndrome N. Werner syndrome (progeria of adults) 3. Chromosome disorders A. Trisomy syndrome B. Turner syndrome 4. Ocular *A. Congenital glaucoma B. Myopia *C. Repeated surgeries D. Scleromalacia (perforans) *E. Staphyloma F. Trauma 5. Miscellaneous A. Ehlers-Danlos syndrome (fibrodysplasia elastica generalisata) B. Goltz syndrome (focal dermal hypoplasia syndrome) C. Incontinentia pigmenti (Bloch-Sulzberger syndrome) D. Lax ligament syndrome E. Minocycline-induced F. Oculodermal melanocytosis (nevus of Ota) G. Pseudoxanthoma elasticum (Grönblad-Strandberg syndrome) H. Relapsing polychondritis [/TD] [/TR] [/TABLE] ref - BLUE SCLERA
