[A family of congenital fibrosis of extraocular muscles associated with naso-sinusitis].

OBJECTIVE: To clinically characterize a collected family of congenital fibrosis of extraocular muscles associated with naso-sinusitis, then determine the genetic location of the disease gene by linkage analysis to approach the etiopathogenesis of CFEOM on gene.

METHODS: A CFEOM family (fifteen cases suffering from congenital general fibrosis syndrome in four generations of 41 members) was collected. All the suffers were correlated with clinical ophthalmic and thin-sectioned magnetic resonance imaging across the orbit and the brain-stem level to determine its clinical classification and genetic characteristics. The family was tested for linkage analysis to two known autosomal dominant CFEOM loci on chromosome 12p11. 2-q12 (FEOM1 ) and 16q24 (FEOM3).

RESULTS: All the suffers had congenital unilateral or bilateral blepharoptosis, head tilt, chin lift, primary gaze fixed in a hypo-and exotropic position, forced duction testing positive. But vertical and horizontal positions of the eye and restriction of eye movement were different among affected individuals. Furthermore, MRI examinations showed that all the incidence of those families associated with naso-sinusitis and hypertrophic inferior turbinate, and the juveniles with hypertrophic adenoid. Pedigree shows that the family were in line with the characteristics of autosomal dominant inheritance. According to the genetic characteristics and clinical manifestations, the genetic family should be referred as CFEOM3. The lod scores for D12S331, D12S59 and D12S1668 were between 1 and 3, and the maximum lod score was 2. 19 for D12S1048, but the lod scores for D16S520, D16S498 and D16S2621 were both < 1.0.

CONCLUSION: This family is best classified as CFEOM3 and linkage with D12S331, D12S59 and D12S1668.