Korean J Ophthalmol.  2015 Feb;29(1):77-78. 10.3341/kjo.2015.29.1.77.

Identification of a Fibrillin-1 Gene Mutation in a Monozygotic Twin Presenting with Bilateral Juvenile-onset Ectopia Lentis

• Yum HR
• Kim SE
• Shin SY
• Park SH

• KMID: 2360145
• DOI: http://doi.org/10.3341/kjo.2015.29.1.77

Abstract

No abstract available.

MeSH Terms

Child, Preschool
DNA Mutational Analysis
Diseases in Twins/*genetics/metabolism
Ectopia Lentis/*genetics/metabolism
Extracellular Matrix Proteins
Humans
Male
Microfilament Proteins/*genetics/metabolism
*Mutation
*Twins, Monozygotic
Extracellular Matrix Proteins
Microfilament Proteins

Figure

• 

  Fig. 1 (A) Images of patient 1. The lenses were displaced upwardly and superonasally in his right and left eyes, respectively. (B) Images of patient 2. The lenses were displaced superotemporally and upwardly in his right and left eyes, respectively. (C) Family pedigree and mutational analysis. Squares and circles indicate males and females, respectively; the darkened symbols represent the affected. Deceased members are indicated by symbols with diagonal lines. The patient above the arrow is the proband. All family members except the twins were examined and determined to be normal. (D) Electropherogram depicting the sequence encompassing the heterozygous G to T transition mutation at nucleotide 7583 (c.7583G>T) in exon 62 of FBN1 in the twins.

Reference

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