Ocular and cutaneous manifestations of heritable disorders of collagen and elastic tissue.
Ocular and cutaneous stigmata are hallmarks of the heritable disorders of collagen and elastic tissue. Awareness of the oculocutaneous features is essential both to aid diagnosis and to direct management of affected patients. Although the angioid streaks of PXE, blue sclerae of OI, ocular fragility of EDS and ectopia lentis of Marfan syndrome are the best-known ocular signs of these disorders, other relevant ophthalmologic symptoms often accompany such classic findings.
Rothe
M J
MJ
University of Connecticut Health Center, Farmington.
Grant-Kels
J M
JM
Kels
B D
BD
D003095:Collagen Diseases / Q000150:complications* / Q000151:congenital / Q000473:pathology; D005128:Eye Diseases / Q000151:congenital / Q000209:etiology*; D005260:Female; D006801:Humans; D008297:Male; D012871:Skin Diseases / Q000209:etiology* / Q000473:pathology