Myotonic dystrophy (dystrophia myotonica), the commonest and most vari
able of the muscular dystrophies of adult life, has long been known to
be associated with cataract, while slit-lamp examination- for specifi
c lens opacities has been one of the principal methods of presymptomat
ic detection of gene carriers. The recent discovery that the myotonic
dystrophy mutation is an unstable DNA sequence, composed of varying nu
mbers of CTG triplet repeats, now allows a specific molecular test for
this disorder, as well as explaining the phenomenon of anticipation.
A series of case reports is presented to illustrate the important prac
tical applications of this development in relation to ophthalmic aspec
ts of the disorder. Reassessment of the specificity of the ophthalmic
changes may be required and it will be important for molecular analysi
s to be used alongside ophthalmic studies, when determining whether fa
mily members carry the mutation for myotonic dystrophy.