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Case Reports
. 2009 Jun;30(2):91-5.
doi: 10.1080/13816810802697473.

Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata

Maree P Flaherty  1 , Chandra Balachandran, Robyn Jamieson, Elizabeth C Engle
Affiliations
Case Reports

Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata

Maree P Flaherty et al. Ophthalmic Genet. 2009 Jun.

Abstract

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.

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Figures

Fig 1
Fig 1
Face photo showing typical bilateral ptosis and chin up position of CFEOM, and eczema
Fig 2
Fig 2
Upper (A) and lower (B) fornices of left eye showing horizontal ridge of conjunctival tissue. The right eye showed similar changes
Fig 2
Fig 2
Upper (A) and lower (B) fornices of left eye showing horizontal ridge of conjunctival tissue. The right eye showed similar changes
Fig 3
Fig 3
A - fundus of right eye showing small intrapapillary disc coloboma B - fundus of left eye showing more subtle intrapapillary disc coloboma
Fig 3
Fig 3
A - fundus of right eye showing small intrapapillary disc coloboma B - fundus of left eye showing more subtle intrapapillary disc coloboma
See this image and copyright information in PMC

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