Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata.
A 6-month-old boy presented with a congenital eye movement disorder consistent with congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Mutational analysis confirmed the most common mutation in the CFEOM1 gene KIF21A. In addition to the typical findings in CFEOM1, distinctive conjunctival changes and small bilateral optic disc colobomata were also noted. It is suggested that optic disc colobomata represent a new association of CFEOM1.
Flaherty
Maree P
MP
Department of Ophthalmology, The Children's Hospital, Westmead, Sydney, Australia. flaherty@zeta.org.au
Balachandran
Chandra
C
Jamieson
Robyn
R
Engle
Elizabeth C
EC
D001763:Blepharoptosis / Q000175:diagnosis / Q000235:genetics; D003103:Coloboma / Q000175:diagnosis* / Q000235:genetics; D003229:Conjunctival Diseases / Q000175:diagnosis* / Q000235:genetics; D004252:DNA Mutational Analysis; D005355:Fibrosis / Q000151:congenital; D006801:Humans; D007223:Infant; D016547:Kinesins / Q000235:genetics*; D008297:Male; D009154:Mutation; D009801:Oculomotor Muscles / Q000473:pathology*; D017246:Ophthalmoplegia, Chronic Progressive External / Q000175:diagnosis* / Q000235:genetics; D009898:Optic Disk / Q000002:abnormalities*
C119023:KIF21A protein, human; D016547:Kinesins