Noncongenital juvenile-onset bilateral lamellar cataract in 1p36 deletion syndrome
Carla Danese1, Silvia Pignatto1, Paolo Lanzetta2
1Department of Medicine, Ophthalmology, University of Udine, Udine, Italy.
Abstract:
We report the case of a 16-year-old girl with 1p36 deletion syndrome, who experienced visual loss in both eyes for 2 months because of lamellar cataracts. Mutations on some 1p36 genes in both experimental models and humans may be associated with cataract. This is the first detailed description of acquired juvenile-onset bilateral cataract with 1p36 deletion.
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