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Emin C. Sener, MD; Bjorn A. Lee, AB; Banu Turgut, MD; A. Nurten Akarsu, MD, PhD; Elizabeth C. Engle, MD

Arch Ophthalmol. 2000;118:1090-1097.

Objectives  To describe the phenotype of a Turkish family with variably expressed congenital fibrosis of the extraocular muscles (CFEOM), and to determine the genetic location of their disorder.

Methods  Participants were examined and had blood extracted for genetic analysis. The clinical features of the family's disorder were studied, and the disorder was tested for linkage to the 3 known CFEOM loci (CFEOM1, CFEOM2, and CFEOM3).

Results  Twenty-nine affected and 31 unaffected family members participated in the study. Eighteen affected individuals had congenital bilateral ptosis and restrictive infraductive (downward) ophthalmoplegia, consistent with the published descriptions of classic CFEOM families linked to the CFEOM1 locus. Eleven affected individuals, however, had eye(s) in a neutral primary position, residual upgaze, and/or absence of ptosis, thus deviating from previous descriptions of CFEOM1-linked families. Analysis of the autosomal dominant variably expressed disorder in this family revealed linkage to the CFEOM1 locus on chromosome 12 with a maximum lod score of 10.8 at D12S85.

Conclusions  This Turkish family segregates a variably expressed form of CFEOM that most closely resembles CFEOM3-linked CFEOM, but maps to the CFEOM1 locus.

Clinical Relevance  These data establish that there is much greater phenotypic heterogeneity at the CFEOM1 locus than previously reported, and this may blur our ability to distinguish the different CFEOM loci based solely on clinical presentation.

From the Department of Ophthalmology (Drs Sener and Turgut) and Child Health Institute (Dr Akarsu), Hacettepe University, Ankara, Turkey; Division of Genetics (Mr Lee and Dr Engle) and Department of Neurology (Dr Engle), Children's Hospital, Harvard Medical School, Boston, Mass.

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