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Персистуюче гіперпластичне первинне склоподібне тіло

ORPHA:91495· ICD-10 Q14.0· Persistent hyperplastic primary vitreous

Визначення(English summary)

A rare ophthalmic disorder characterized by mostly unilateral failure of the regression of a fetal ocular vessel component, the tunica vasculosa lentis and/or the hyaloid system, resulting in an anterior (presenting with microphthalmia, leukocoria, cataract, glaucoma, elongated ciliary processes, shallow anterior chamber, and retrolental fibrovascular membranes, among others) or posterior disease subtype (with microphthalmia, leukocoria, presence of a retinal fold or detachment, hypo- or dysplastic optic nerve, and vitreous membranes and stalk), respectively. Most patients present with a combination of the two subtypes.

Поширеність
Unknown
Успадкування
Autosomal dominant, Autosomal recessive
Вік початку
Infancy, Neonatal