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.
Noncongenital juvenile-onset bilateral lamellar cataract in 1p36 deletion syndrome
Lanzetta P.
2021-01-01
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.File in questo prodotto:
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