Noncongenital juvenile-onset bilateral lamellar cataract in 1p36 deletion syndrome

Carla Danese; Silvia Pignatto; Paolo Lanzetta

doi:10.1016/j.jaapos.2021.07.003

Noncongenital juvenile-onset bilateral lamellar cataract in 1p36 deletion syndrome

J AAPOS. 2021 Dec;25(6):368-370. doi: 10.1016/j.jaapos.2021.07.003. Epub 2021 Aug 31.

Authors

Carla Danese¹, Silvia Pignatto¹, Paolo Lanzetta²

Affiliations

¹ Department of Medicine, Ophthalmology, University of Udine, Udine, Italy.
² Department of Medicine, Ophthalmology, University of Udine, Udine, Italy; Istituto Europeo di Microchirurgia Oculare - IEMO, Udine, Italy. Electronic address: paolo.lanzetta@uniud.it.

PMID: 34478844
DOI: 10.1016/j.jaapos.2021.07.003

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.

Publication types

Case Reports

MeSH terms

Adolescent
Cataract* / congenital
Cataract* / diagnosis
Cataract* / genetics
Chromosome Deletion
Chromosome Disorders* / genetics
Chromosomes, Human, Pair 1
Female
Humans
Mutation

Supplementary concepts

Chromosome 1p36 Deletion Syndrome