A family of congenital fibrosis of extraocular muscles associated with juvenile canities

Abstract

To analyze the clinical manifestations of affected individuals in a family of congenital fibrosis of the extraocular muscles (CFEOM) with juvenile canities. All affected and unaffected individuals were retrospectively analyzed in this study. The clinical features include genetic aspects, sex, age, ptosis, restriction of eye movement, aberrant innervation and surgical procedures, were evaluated. This pedigree was inherited as autosomal dominant. There were 14 cases suffering from congenital fibrosis of extraocular muscles in four generations. They had congenital blepharoptosis, head-tilt, chin lift and primary gaze fixed in a hypotrophic position. But vertical and horizontal positions of the eye and restriction of eye movement were different among affected individuals. Some of them also had pupillary abnormally, aberrant innervation and juvenile canities. Inferior rectus recession improved hypotropia in patients with infraducted eyes and chin elevation. Horizontal muscle recession corrected horizontal strabismus satisfactorily in most cases. Ptosis was repaired by frontalis sling or levator resection. This is the first report of CFEOM associated with juvenile canities. There was phenotypic heterogeneity in this CFEOM pedigree. So the phenotype alone is not sufficient to distinguish among the 3 genotypically distinct CFEOM syndromes. The combination of clinical characteristics and genetic analysis are the basis for the establishment of diagnosis.