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.
Titolo: | Noncongenital juvenile-onset bilateral lamellar cataract in 1p36 deletion syndrome | |
Autori: | ||
Data di pubblicazione: | 2021 | |
Rivista: | ||
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. | |
Handle: | http://hdl.handle.net/11390/1214474 | |
Appare nelle tipologie: | 1.1 Articolo in rivista |
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