Blue Sclera "Definition and Diseases"

Definition:

Blue sclera is characterized by localized or generalized blue coloration of sclera because of thinness and loss of water content, which allow underlying dark choroid to be seen.

Diseases and Disorders:

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

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