OPHTHALMOLOGIC DISORDERS IN PATIENTS WITH MYOTONIC DYSTROPHY TYPE 1

Pavlovski V Clinic of Neurology, Clinical Centre of Serbia, School of Medicine, University of Belgrade
SUMMARY
Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy in adults. It is characterized by wasting of the muscles and myotonia. Besides muscles, DM1 affects other organs, including the eye, heart, endocrine system, and central nervous system. The aims of this study were to determine the type and prevalence of ophthalmologic disorders in patients with DM1 and to examine their correlation with sociodemographic and clinical characteristics of patients. The study included 255 patients with DM1. All patients were examined during hospitalization by neurologist and ophthalmologist. A wide range of ophthalmologic disorders was present in our patients with DM1. Semiptosis was the most common disorder, seen in 96,9% patients. Cataract was present in 77,6% patients. VEP pathology was seen in 42,1% patients. Abnormalities of the eye fundus had 16,1% and abnormalities of the extra ocular muscles 6,3% patients. Intraocular pressure was low or at the lower limit of normal values. The prevalence and type of ophthalmologic disorders were in correlation with severity and duration of disease.

INTRODUCTION
Myotonic dystrophy type 1 (DM1) is an autosomal dominant, multisystemic disease. Clinically is manifested by high variability of symptoms and signs. Ophthalmologic disorders are very frequent in patients with DM1. The most common is cataract [1]. Ptosis, weakness of the extra ocular muscles, retinal changes [2,3], low intraocular pressure [4] and pathologic findings of visual evoked potentials (VEP) [5], are also described in patients with DM1. The aims of this study were: - to determine the type and prevalence of ophthalmologic disorders in patients with DM1 - to examine their correlation with sociodemographic characteristics of patients - to examine their correlation with clinical characteristics of patients.

MATERIALS AND METHODS

The study included 255 patients with DM1 (Table 1). Severity of the disease was determined using Muscular Impairment Rating Scale (MIRS). Table 1. Demographic and clinical features of investigated DM1 patients male : female age stage of DM1 (I:II:III:IV:V) 52,2 : 47,8 (%) 40,511,3 years 0,8 : 13,3 : 25,5 : 29,4 : 31 (%) Ophthalmologic examination included: - inspection of semiptosis presence - examination of the extra ocular muscles (EOMs) - examination of the lens suspected of cataract - examination of the eye fundus by ophthalmoscope - measurement of intraocular pressure (IOP) - assessment of visual evoked potentials (VEP). Additional tests included: - glucose tolerance test (OGTT) - measurement of HOMA (Homeostasis model assessment) index - the levels' determination of cholesterol and triglycerides - blood pressure measurement.

RESULTS
Semiptosis was seen in 96,9% patients (Figure 1). Degree of semiptosis was correlated with the severity of the disease (p<0,05) and disease duration (p<0,01). Figure 1. Distribution of patients according to the degree of semiptosis 5.1% 1.6% without semiptosis 38.4% mild semiptosis 53.3% moderate semiptosis expressed semiptosis Abnormalities of the EOMs were present in 6,3% patients. The disease lasted longer in patients with dysfunction of EOMs (p<0,05). Cataract was present in 77,6% patients (Figure 2). Cataract appeared in average of 41,213,5 years. As the first symptom of DM1, it was reported in 34,9% patients (Figure 3). Lens surgery had 48,5% patients (Figure 4). After lens surgery cataract reappeared in 17,9% of patients after 1,20,8 years. Presence of cataract was related to the disease severity (p<0,01) and disease duration (p<0,05), but it was not in corellation with OGTT as HOMA index. Figure 2. Distribution of patients according to the presence of cataract 22.4% 77.6% presence of cataract absence of cataract Figure 3. Distribution of patients according to the lokalization of cataract 20% bilateral cataract 80% unilateral cataract Figure 5. Distribution of patients according to the VEP findings Figure 4. Distribution of patients according to the lokalization of the operated lens 29% bilateral surgery 71% unilateral surgery 10.5% does not generate 28.9% 57.9% normal result 2.6% unilateral prolongation of the p100 latency bilateral prolongation of the p100 latency The mean IOP was: - 12,22,0 mmHg for the right eye - 12,11,5 mmHg for the left eye Abnormalities of the eye fundus had 16,1% patients. - signs of atherosclerosis in blood vessels - 11% patients - lesion of the retina - 2.4% patients - lesion of the macula - 6.3% patients - changes in the optic nerve papilla - 0,8% patients. Condition of fundus blood vessels was correlated to the age of patients (p<0,01), but the correlation between changes in blood vessels and risk factors (OGTT, HOMA, blood pressure, triglycerides, cholesterol) was not found. VEP pathology was present in 42,1% patients (Figure 5). VEP results were related to the disease duration (p<0,01).

CONCLUSION:
A wide range of ophthalmologic disorders was found in patients with DM1. The most common disorders in our patients with DM1 were: semiptosis (96,9%) cataract (77,6%), VEP pathology (42,1%), lesion of the eye fundus (16,1%), abnormalities of the extra ocular muscles (6,3%). The prevalence and type of ophthalmologic disorders were in correlation with severity and duration of disease. Intraocular pressure was low or at the lower limit of normal values in all DM1 patients.
References
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