Clinical Management and PHOX2A Mutation Analysis in Patients with Familial and Sporadic forms of Congenital Fibrosis of the Extraocular Muscles (CFEOM)

Abstract

Abstract: : Purpose:To evaluate the clinical and surgical management of patients with familial or sporadic CFEOM and to search the PHOX2A gene for mutations in a large number of these patients. Methods:30 affected individuals from 19 families with familial or sporadic CFEOM were evaluated. In addition to the assessment of ocular motility, examinations included evaluation of visual acuity, slit lamp biomicroscopy, tonometry and ophthalmoscopy. Mutation analysis of the PHOX2A gene is underway on patients from 11 families. Exons of the PHOX2A gene are amplified utilizing PCR primers reported by Nakano et al. (Nat Genet. 2001; 29:315-20), and direct sequencing of PCR products using a Beckman-Coulter 2000 XL DNA Analysis System. Results:There was 1 Iranian family with autosomal dominant inheritance, and 4 Iranian, 1 Yemenite and 1 Lebanese families with autosomal recessive inheritance. There were 12 simplex cases. 3 simplex patients had unilateral disease. All other cases were bilateral. Patients underwent a number of surgical eye muscle and ptosis repair procedures. PHOX2A mutation analysis is in progress. Conclusion:CFEOM occurs in familial dominant and recessive forms, and as isolated cases. Mutations in PHOX2A have been shown to cause some of the recessive forms of the disease.

Keywords: 420 genetics • 590 strabismus: etiology • 591 strabismus: treatment