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Edward J. Doherty, Margaret E. Macy, Susan M. Wang, Catherine P. Dykeman, Maureen T. Melanson, Elizabeth C. Engle; CFEOM3: A New Extraocular Congenital Fibrosis Syndrome that Maps to 16q24.2-q24.3. Invest. Ophthalmol. Vis. Sci. 1999;40(8):1687-1694.
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purpose. To define the clinical characteristics and determine the gene
localization for a previously undescribed form of congenital fibrosis
of the extraocular muscles (CFEOM), referred to as CFEOM type 3
methods. A large family with CFEOM was identified, and participating individuals
underwent ophthalmologic examination and donated blood for genetic
analysis. The family’s disorder was tested for linkage to the known
CFEOM loci, followed by a genome-wide search and linkage refinement
using polymorphic DNA markers.
results. Thirty-eight members of this Canadian family participated in the study.
Affected individuals are born with a nonprogressive eye movement
disorder characterized by variable expression of ptosis and restrictive
external ophthalmoplegia. Severely affected individuals have ptosis,
primary gaze fixed in a hypo- and exotropic position, and marked
restriction of eye movement bilaterally. Mildly affected individuals
have normally positioned globes with a limitation of vertical gaze.
Moderately affected individuals have asymmetrical involvement with one
eye severely and one eye mildly affected. The disorder is autosomal
dominant with variable expression and probable incomplete penetrance.
Genetic analysis reveals linkage to markers on 16q24.2-q24.3. A maximum
lod score of 5.8 occurs at markers D16S3063 and D16S689, and the CFEOM3 disease gene is located within a≈
5.6-cM region flanked by D16S486 and D16S671.
conclusions. These data establish that CFEOM3 is a phenotypically variant and
genotypically distinct form of CFEOM with linkage to chromosome 16qter.
The authors have previously demonstrated that CFEOM1 results from a
developmental absence of the superior division of the oculomotor nerve.
The authors hypothesize that CFEOM3 results from a defect analogous to,
but distinct from, CFEOM1.
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