Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus.
The diagnosis of congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. The OMIM database (http://www.ncbi.nlm.nih.gov/Omim/) currently contains four familial CFEOM phenotypes: CFEOM1-3, which map to the FEOM1-3 loci (MIM 135600, 602078, 604361), respectively, and congenital fibrosis of the vertically acting extraocular muscles (MIM 600638), reported in a single family without a corresponding genotype. We have had the opportunity to study the reported family with this fourth phenotype and now demonstrate that their phenotype can be reclassified as CFEOM3 and that it maps to FEOM3, flanked by D16S498 to 16qter, with a maximum lod score of 6.0.
Mackey
David A
DA
Royal Victorian Eye and Ear Hospital, Melbourne, Australia.
Chan
Wai-Man
WM
Chan
Christopher
C
Gillies
W E
WE
Brooks
Anne M V
AM
O'Day
Justin
J
Engle
Elizabeth C
EC
D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D005128:Eye Diseases / Q000151:congenital* / Q000235:genetics* / Q000473:pathology; D005260:Female; D005355:Fibrosis / Q000151:congenital* / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008126:Lod Score; D008297:Male; D009801:Oculomotor Muscles / Q000473:pathology*; D010375:Pedigree