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Título

Myotonic dystrophy type 1: a disease with multiples ophthalmologic findings

Resumo

PURPOSE: Several ocular abnormalities have been documented to occur in patients with myotonic dystrophy type 1. The purpose of the study was to evaluate the frequency of these abnormalities and to alert the importance of multidisciplinarity for better patient management. METHODS: All participants underwent a thorough ophthalmologic examination, including visual acuity assessment, slit-lamp biomicroscopy, ocular motility, dynamic refraction, and fundus examination in addition to optical coherence tomography, a complementary exam that is fundamental for retinal evaluation, since many of these patients may have low visual acuity unrelated only to the presence of cataracts. RESULTS: We evaluated 68 eyes of 34 patients aged 3 to 71 years (mean 42.7 ± 16.9), 17 of which were men. IOP was reduced in 20 eyes (29,4%). We found cataract or positivity for surgery in 31 eyes (45,6%) and ptosis in 40 (58,8%). Myopia in 36 eyes (52,9 %), hyperopia in 16 eyes (23,5%), ocular motility limitations in 14 eyes (20,6 %), blepharitis in 12 eyes (17,6 %), epiretinal membrane in 24 eyes (35,3 %) and pigmentary retinopathy in 13 eyes (19,1 %). CONCLUSIONS: Cataract and ptosis are frequent in DM1 and associated to motor dysfunction. An expressive reduction of intraocular pressure was observed in our patients as well. A finding described in the literature that was not found in our patients was lamellar macular holes and foveal schisis. However, we observed an important and relatively common alteration that was an irregularity and pigmentary changes in the choriocapillary/RPE complex which could only be analyzed and visualized with the advent of the spectral domain optical coherence tomography technology. We report an increased prevalence of epiretinal membrane in the myotonic dystrophy type 1 group. Therefore, it is important to emphasize the importance of the inclusion of different specialties in multisystem diseases like DM1, once that brings benefits to both patients, in their diagnosis and follow-up, as about the quality of life and prognosis, once again ophthalmological changes above found have treatment.

Palavras Chave

Myotonic dystrophy type 1; steneirt disease; cataract; ptosis; epiretinal membrane; pigmentary retinopathy; optical coherence tomography