PURPOSE: The purpose of this paper is to describe ophthalmic findings in a 
family with isolated ectopia lentis (EL) caused by a specific FBN1 mutation.
METHODS: Detailed family histories and clinical data were recorded for six 
isolated EL patients of 11 family members. The ophthalmological and systematic 
examinations were performed on patients and unaffected members of the 
investigated family. The detailed ocular examinations included visual acuity, 
anterior chamber depth, pupil size, lens location, optometry, central corneal 
thickness, keratometry, slitlamp examination, fundus examination, axial length, 
ocular B-ultrasound, gonioscope checking, ultrasound biomicroscopy (UBM) and 
intraocular pressure (IOP; Goldmann applanation tonometer). Systematic 
examinations included the measurement of echocardiogram, height, arm span, 
skull, face, jaw, tooth, breast bone, spinal column, and skin. Genomic DNA was 
extracted using the phenol-chloroform extraction method for all subjects, and 
sequencing was carried out on an ABI Prism 3730 Genetic Analyzer.
RESULTS: A heterozygous mutation, c.184C>T (p.Arg62Cys) in exon 2 of FBN1 was 
identified in all affected members but was not found in any unaffected member of 
the family. Our study presented detailed clinical manifestations, including some 
novel ophthalmic findings, such as pupillary abnormality, different types of 
glaucoma, and progressive hyperopia.
CONCLUSIONS: Ophthalmic findings and the p.Arg62Cys mutation of FBN1 gene were 
reported in a family with early-onset isolated ectopia lentis.