Aniridia
Liláková D.,Hejcmanová D.,Jüttnerová V.*,Rozsíval P.
Oční klinika FN,Hradec Králové,přednosta prof.MUDr.P.Rozsíval,CSc. Oddělení lékařské genetiky FN,Hradec Králové,primářka MUDr.V.Jüttnerová |
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Summary:
Aniridia is a congenital developmental anomaly of the eye that usually affects
both eyes.The development of the iris,cornea,lens,angle,optic nerve and retina
is disturbed.Aniridia is most often a hereditary disease with an autosomal domi-
nant,rarely autosomal recessive inheritance,but sporadic cases are also possible.
The vision function in aniridia has been observed to have a wide range from
blindness toa normal visual acuity.Themore serious cases where blindness occurs
has been due not specifically to the aniridia but to associated conditions like
cataract,glaucoma,foveal hypoplasia,corneal dystrophy,nystagmus.Aniridia
could be associated with the mental retardation.Some of the sporadic cases
develop Wilms ’tumor,frequently as part of the WAGR syndrome (Wilms ’tumor,
aniridia,genitourinary abnormalities and mental retardation)
Key words:
aniridia,WAGR syndrome,secondary glaucoma,Wilms ’tumor
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