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Ectopia Lentis et Pupillae Caused by ADAMTSL4 Pathogenic Variants and an Algorithm for Work-up.

Safi, Mustafa; Nejad, Salimeh Khazaei; O'Hara, Mary; Shankar, Suma P.

J Pediatr Ophthalmol Strabismus ; 56: e45-e48, 2019 Jul 05.

Article in English | MEDLINE | ID: mdl-31282960

ABSTRACT

Ectopia lentis is displacement of the lens from its original position. It can be inherited or acquired with isolated or systemic findings. The authors describe a 4-year-old girl with isolated ectopia lentis et pupillae caused by pathogenic variants in the ADAMTSL4 gene and discuss the molecular genetic work-up of individuals with ectopia lentis. [J Pediatr Ophthalmol Strabismus. 2019;56:e45-e48.].

Subject(s)

ADAMTS Proteins/genetics , Algorithms , DNA/genetics , Ectopia Lentis/genetics , Lens, Crystalline/diagnostic imaging , Mutation , Pupil Disorders/genetics , ADAMTS Proteins/metabolism , Child, Preschool , DNA Mutational Analysis , Ectopia Lentis/diagnosis , Ectopia Lentis/metabolism , Female , Humans , Pedigree , Pupil Disorders/diagnosis , Pupil Disorders/metabolism , Tomography, Optical Coherence

ABSTRACT

Subject(s)

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