Myotonic dystrophy type 1: frequency of ophthalmologic findings

Ikeda, Karin Suzete; Iwabe-Marchese, Cristina; França Jr, Marcondes Cavalcante; Nucci, Anamarli; Carvalho, Keila Monteiro de

doi:10.1590/0004-282X20150218

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Articles • Arq. Neuro-Psiquiatr. 74 (3) • Mar 2016 • https://doi.org/10.1590/0004-282X20150218 copy

Myotonic dystrophy type 1: frequency of ophthalmologic findings

Distrofia miotônica tipo 1: frequência dos achados oftalmológicos

Authorship SCIMAGO INSTITUTIONS RANKINGS

ABSTRACT

The purpose of the study was to evaluate the frequency of ophthalmologic abnormalities in a cohort of myotonic dystrophy type 1 (DM1) patients and to correlate them with motor function. We reviewed the pathophysiology of cataract and low intraocular pressure (IOP).

Method

Patients were included after clinical and laboratory diagnosis and after signed informed consent. They were evaluated by Motor Function Measure scale, Portuguese version (MFM-P) and ophthalmic protocol.

Results

We evaluated 42 patients aged 17 to 64 years (mean 40.7 ± 12.5), 22 of which were men. IOP (n = 41) was reduced in all but one. We found cataract or positivity for surgery in 38 (90.48%) and ptosis in 23 (54.76%). These signs but not IOP were significantly correlated with severity of motor dysfunction. Abnormalities in ocular motility and stereopsis were observed.

Conclusion

Cataract and ptosis are frequent in DM1 and associated to motor dysfunction. Reduced IOP is also common, but appears not to be related with motor impairment.

myotonic dystrophy type 1; cataract; eyelid ptosis; intraocular pressure; Motor Function Measure scale; Portuguese version

Cataract	IOP mean (mmHg)	Eyelid ptosis	Visual acuity OD in LogMar	Visual acuity OS in LogMar	Refraction OD	Refraction OS	Cornea	Optic nerve	Retina	Strabismus	Stereopsis in seconds of arc
N = 42	N = 41	N = 42	N = 42	N = 42	N = 42	N = 42	N = 42	N = 42	N = 42	N = 42	N = 36

38	1	23	20	22	3	1	39	38	37	34	7
90.48%	2.44%	54.76%	47.61%	52.38%	7.14%	2.38%	92.86%	90.47%	88.09%	80.95%	19.44%
yes	normal	yes	0	0	emmetropia	emmetropia	normal	normal	normal	normal	40

4	OD	19	7	5	3	5	2	2	5	4	9
9.45%	8.7	45.24%	16.67%	11.90%	7.14%	11.90%	4.76%	4.76%	11.90%	9.52%	25%
no	(±2.00)	no	0.1	0.1	myopia	myopia	superficial punctata keratitis	cup-to-disc ratio > 0,6	altered	exophoria	50

	OS		7	6	6	2	1	1	2	2	2
	8.7		16.67%	14.29%	14.29%	4.76%	2.38%	2.38%	4.76%	4.76%	5.55%
	(±1.99)		0.2	0.2	hyperopia	hyperopia	senile corneal arcus	cup-to-disc asymmetry between eyes> 0,2	pigmentary epithelium retina atrophy	intermittent exotropia	60

			2	1	8	7		1	2	1	2
			4.76%	2.38%	19.05%	16.67%		2.38%	4.76%	2.38%	5.55%
			0.3	0.3	astigmatism	astigmatism		peripapillary atrophy	pigmentary alteration of the macula	exotropia	80

			3	1	15	16			1	1	2
			7.14%	2.38%	35.71%	38.09%			2.38%	2.38%	5.55%
			0.4	0.4	myopia and astigmatism	myopia and astigmatism			chorioretinal scar	intermittent esotropia	100

			1	3	7	11					1
			2.38%	7.14%	16.67%	26.19%					2.78%
			0.5	0.5	hyperopia and astigmatism	hyperopia and astigmatism					140

			1	2							7
			2.38%	4.76%							19.44%
			0.8	0.7							200

			1	2							2
			2.38%	4.76%							5.55%
			1	1.3							400

											1
											2.78%
											800

											3
											8.33%
											> 3000

Case	Age (y)	D1 (%)	D2(%)	D3(%)	Total (%)
1	48	41.02	94.44	95.23	72.91
2	60	33.33	94.44	80.95	66.66
3	36	53.84	83.33	71.42	68.75
4	48	61.53	77.77	66.66	68.75
5	34	66.66	94.44	71.42	78.12
6	57	58.97	88.88	80.95	75.00
7	36	76.92	88.88	85.71	83.33
8	32	97.43	100	90.47	96.87
9	26	97.43	97.22	100	97.91
10	57	79.48	91.66	100	88.54
11	44	35.89	80.55	80.95	62.50
12	34	87.17	86.11	95.23	88.54
13	30	100	100	95.23	98.95
14	34	100	91.66	90.47	94.79
15	45	28.20	77.77	71.42	56.25
16	47	71.79	91.66	85.71	82.29
17	30	64.10	94.44	95.23	82.29
18	31	74.35	97.22	95.23	87.50
19	28	94.87	91.66	95,23	93.75
20	40	38.46	97.22	61.90	65.62
21	34	48.71	80.55	76.19	66.66
22	37	25.64	80.55	80.95	58.33
24	50	17.94	66.66	47.61	42.70
25	60	35.89	88.88	66.66	62.50
26	64	71.79	94.44	95.23	85.41
27	61	25.64	83.33	61.90	55.20
28	23	92.30	97.22	95.23	94.79
29	58	20.51	93.93	61.90	54.16
31	49	79.48	94.44	95.23	88.54
32	40	61.53	88.88	85.71	77.08
33	35	94.87	97.22	95.23	95.83
34	57	33.33	83.33	76.18	61.45
36	17	94.87	97.22	85.71	93.75
38	30	92.30	94.44	95.23	93.75
39	35	51.28	88.88	90.47	73.95
42	39	71.79	86.11	90.47	81.25
Mean	41.28	63.31	89.87	83.59	77.63
SD	12.17	26.27	7.48	13.19	15.07
median	38	65.38	91.66	85.71	79.68

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[1] Correspondence
:Keila Monteiro de Carvalho; Departamento de Oftalmologia da UNICAMP; Rua Tessália Vieira de Camargo, 126; 13083-887 Campinas SP, Brasil; E-mail: keilammc@gmail.com