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Congenital coloboma of the optic nerve is often associated with
serious detachment of the macula. Savell and
Cook (1976) observed 15 affected persons in 1 kindred. In 21 of
the 30 eyes, present or past detachment of the retina was found. The
coloboma was bilateral in all. It appeared as enlargement of the
physiologic cup with severely affected eyes showing huge cavities at
the site of the disc. A variable amount of glial tissue was present
in the coloboma. No male-to-male transmission was observed. It is not
certain that this entity is separate from that discussed in 120200.
Jonas and Freisler (1997) used the
designation 'bilateral congenital optic nerve pits' for this
disorder, which they observed in 2 otherwise healthy female
monozygotic sibs aged 15 years. In both twins, visual acuity was
worse in the eye with the larger optic nerve head. The parents were
ophthalmologically unremarkable; there were no other sibs. Retinal
detachment extending from the optic disk to the ora serrata in the
temporal upper quadrant developed in 1 eye.
Victor A. McKusick - updated : 3/27/1998
Victor A. McKusick : 6/4/1986
psherman : 3/27/1998
dholmes : 3/5/1998
mimadm : 6/25/1994
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988
marie : 12/15/1986