ocular changes in myotonic dystrophy* charlotte a

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    BY Herrmann M. Burian, M.D., AND (BY INVITATION)Charlotte A. Burns, M.D.

    BECAUSE LENTICULAR OPACITIES are frequently seen in myotonic dys-trophy, ophthalmologists have long been familiar with the disease.Indeed, on occasion ophthalmologists have been the first ones to makethe diagnosis, since the lenticular changes are rather typical andspecific and may occur early in the disease. In general, the myotoniccataract has been the only ocular sign, except for the ptosis of theupper lids, which ophthalmologists have associated regularly with thedisease.Of recent years more or less sporadic findings have indicated that

    the ocular involvement in myotonic dystrophy is much more extensivethan had been previously reported. These findings led one to suspectthat a systematic study of the eyes of patients with myotonic dystrophywould yield information which would be not only of ophthalmologicinterest but which might also contribute to a better understanding ofthe nature of the disease.We have, therefore, taken the opportunity to make a thorough

    investigation of the patients with myotonic dystrophy available to usthrough our departments of ophthalmology and neurology. To datewe have had 25 such patients. Their ages ranged from 10 to 57 years.All had well-established myotonic dystrophy. Some had been studiedpreviously by members of our Neurosensory Center.' We were inter-ested not only in the physical but also in the functional status of theeyes of these patients. In a previous report we have described ourfindings on the behavior of dark adaptation and electroretinography.2In the present paper we shall review the findings in the physicalexamination of the eyes of the same group of patients.

    'From the Department of Ophthalmology and the Neurosensory Center (PaperNo. 105) of the College of Medicine of the University of Iowa. The NeurosensoryCenter is supported by Program Project Grant B-3345 from the National Instituteof Neurologic Diseases and Blindness, National Institutes of Health, Bethesda,Maryland.

    TR. AM. OPHTH. Soc., vol. 64, 1966

  • Ocular Changes in Myotonic Dystrophy



    All patients presented the well-known myotonic facies whichincluded in almost all a ptosis of one or both upper lids and a more orless pronounced enophthalmos. One patient had a definite antimongo-loid lid fissure. Eight had a seborrheic blepharitis; in three it was notrecorded. Two patients had hordeola when seen; one reported havinghad frequent hordeola in the past (Table 1).


    Present Absenit Not recorded

    Ptosis 21 4Blepharitis 8 14 3Hordeola 3 22

    Cultures were taken from the tarsal conjunctiva of 15 patients. Ineight patients there was no growth in 48 hours on blood agar plates.From the eyes of the remaining seven patients hemolytic and non-hemolytic Staph. aureus and non-hemolytic Staph. albus were grown.


    Eleven patients had a restriction of their gaze movements in alldirections. Seven patients had a large exophoria, three an exotropia,one an esotropia with unilateral amblyopia, and one a convergenceinsufficiency. The remaining four had normal function of their extra-ocular muscles.


    Six patients complained of epiphora: one of these had more or lessconstant epiphora; in all of them the epiphora became much worsewith cold, wind, and other irritations.The Schirmer test, considered positive if the wetting of the filter

    paper was 10 mm. or less in five minutes, proved positive in 20 eyesof 13 patients and negative in 16 eyes of 11 patients. Seven patientswere not tested (Table 2).


    Positive Negative Not done

    Numllber of eyes 20 16 14


  • Hermann M. Burian and Charlotte A. Burns

    Of the patients who complained of undue epiphora with irritation,four patients (six eyes) had a positive Schirmer test; in three patients(four eyes) the Schirmer test was negative. One patient was nottested. In seven patients in whom particular attention was paid to thisaspect, there was a pre-corneal film with oily globules and mucousstrands (Figure 1).

    FIGURE 1

    Cornea of right eye of a 35-year-old woman. Note the oily droplets in theprecorneal film and the old, healed ulcers near the limbus above and below.


    Four patients showed signs of keratitis sicca. Of these, one patienthad a positive Schirmer test in both eyes; two had a positive Schirmertest in one eye; one patient was not tested.One patient had a Fuchs endothelial-epithelial dystrophy in both

    eyes, one of which showed band keratopathy and exposure keratitis;one had a Fuchs delle in one eye; one had Hassel-Henle warts in oneeye; and one had a pannus in one eye. One patient had healed staphy-lococcal ulcers (Figure 1).CHAMBER ANGLE

    Eighteen patients have had a gonioscopic examination; all had gradeIV open angles. Four showed whitish li'nt-like fibers on the ciliary bodyband and one had mound-like structures on the last roll of the iris.


  • Ocular Changes in Myotonic Dystrophy


    The lenticular changes which were seen are listed in Table 3. Onepatient was bilaterally aphakic. In 20 patients the typical iridescentmyotonic dust was seen in both lenses. The patient with aphakia hada blue crystal on the vitreous face of one eye which was in everyrespect similar to the "dust" seen in the lenses of other patients. Thefour youngest patients and one of the adults showed no iridescent dust.


    PosteriorI ridescent Cortical subcapsular

    dust "Snowballs" spokes plaques Aphakia

    Number of eyes 40 24 3 13 2

    In 12 patients (24 eyes) "snowball"-like opacities were seen. Theseincluded the four children and the one adult who had shown noiridescent dust in their lenses.

    In 13 eyes of eight patients posterior subcapsular plaques werenoted; in three eyes of two patients cortical spokes were found and inthree eyes of two patients there was nuclear sclerosis. One patient hadstar-shaped remnants of the pupillary membrane on the anterior lenssurface.


    The intraocular pressure, taken with the Goldmann applanationtonometer in all but three patients, was remarkably low in the 23patients (45 eyes) in whom it was checked. The average for the groupwas 10 mm.Hg; the spread was from 4 to 17 mm.Hg (Table 4 andFigure 2). When the patients were divided by age groups (Table 5),a definite decrease in intraocular pressure with advancing age becameevident.Tonography was done in 16 of the 25 patients (31 eyes). The

    average C-value of these 31 eyes was .31 mm.3/min./mm.Hg with aspread from .15 to .59 mm.3/min./mm.Hg (Table 4 and Figure 3). Abreakdown by age groups showed no significant differences (Table 6).

    FrUNDIWe were especially intercsted in a careful study of the ocular fundi

    of the patients. In all of them the optic disc appeared to be normal inshape, outline, and color, although several showed a greenish-brownhalo around the disc.


  • Hermann M. Burian and Charlotte A. Burns


    Intraocularpressure C-values

    Name Sex Age G. D. O.S. G. D. O.S.

    PH F 10 13 17 .37 .36JY F 13 14 16IS F 15 10 1(IM F 28 15 15 .22 .30RB F 32 13 11 .38 .25*RW M 33 12.2 12.3 - -LP F 35 9 5 .42 .39HdeJ F 36 12 13 .31 .34MJ M 36 9 9 .36 .36GH M 37 6 4 > 39 > 30DH F 37 8 8 .53 .42JM M 37 10 11 .30 .29JR M 38 6 5 > 28 > 15LC F 38

  • Ocular Changes in Myotonic Dystrophy



    FIGURE 2

    Histogram of intraocular pressure.

    In 14 of the patients no anomalies of the posterior pole of the eyeswere seen; in six the macular areas were definitely abnormal and inthe remaining five they were questionably abnormal. When macularchanges had occurred, the retina at the posterior pole had a peculiarlyhazy and almost puckered appearance. This haze was not due to cloud-ing of the media. It was responsible for a certain lack of definition inthe fundus photographs reproduced here.The fully developed macular anomalies in these patients had rather

    characteristic features (Figure 4). There was a pigment disturbancewhich took the form of a streak, radiating more or less from the fovea.In some patients there was only one such streak; in others there werethree to five, giving somewhat of a stellate configuration.

    22 5

  • Her56Hrann Al. Buriati atd Charlotte A. Burns


    50mm3/min /mm HgFIGURE :3

    Histogralm of C-vaclutes;.

    Comparison of the macular lesions in the eyes of different patients(Figures 5, 6, and 7) gave certain hints about the possible genesis ofthese pigment streaks. There seemed at first to be whitish lesions, onoccasion appearing diffuse in shape (Figure 5) but generally streak-like (Figure 7), located deep in the retina or behind it (Bruch'smembrane ?). Above these one noted pigment spots of varying sizeswhich coalesced to make a streak-like arralngement of the pigmentwhen the process had advanced further.Four patients had clumpy peripheral retinal pigmentation, seen in

    indirect ophthalmoscopy (Figure 8); nine others showred no suchpigmentation. Twelve patients were not examined with the indirectophthalmoscope but direct ophthalmoscopy did not reveal peripheralpigmentation. One of the four patients had also a macular disturbance;the other three did not.

    Unusually narrow arterioles wTere noted in 14 patients (Figure 9);this narrowving wzas particullarly pronounced in four of them.Fundus photography after intravenous flulorescein injection wvas done

    in six patients. It added no new informaltion.


  • Ocuclar Changes in Alyotonic Dystrophy

    FIGURE 4Posterior pole of fundus of

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