Waardenburg syndrome

Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.

Retinopathy

Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.

Total: 3

(per page)

PMID (PMCID)
22205830 (3245192)	OTHER
	Asymmetric severity of diabetic retinopathy in Waardenburg syndrome.
	Kashima T, Akiyama H, Kishi S. Clin Ophthalmol. 2011;5:1717-20.
	To the best of the authors' knowledge, this is the first case report of a patient with Waardenburg syndrome and diabetic retinopathy.
22205830 (3245192)	OTHER
	Asymmetric severity of diabetic retinopathy in Waardenburg syndrome.
	Kashima T, Akiyama H, Kishi S. Clin Ophthalmol. 2011;5:1717-20.
	We speculate that hypopigmentation of the fundus in Waardenburg syndrome may be responsible for the reduction in retinal metabolism, which led to a reduction in oxygen consumption and prevented further aggravation of the diabetic retinopathy.
22205830 (3245192)	OTHER
	Asymmetric severity of diabetic retinopathy in Waardenburg syndrome.
	Kashima T, Akiyama H, Kishi S. Clin Ophthalmol. 2011;5:1717-20.
	Asymmetric severity of diabetic retinopathy in Waardenburg syndrome.