Abstract
Purpose :
To describe the ophthalmological findings, functional by microperimetric and structural characteristics in presymptomatic patients with myotonic dystrophy type 1
Methods :
This is series cases-study. We recruit a sample of 5 patients (10 eyes) in the Instituto Nacional de Rehabilitación, Mexico City. A complete ophthalmological evaluation was performed: Visual acuity with Snellen chart; autorefractometer; we explore eye movements; biomicroscopy; intraocular pressure with Goldman tomometer; Microperimetry with MAIA (Macular Integrity Assessment) Centervue; OCT Spectralis (Hidelberg Engineering); AngioOCT (Triton, Topcon). A descriptive analysis of the variables was carried out.
Results :
Aged between 19 and 72 (mean age 50 ± 20.2) 4 (80%) were men, the range of visual acuity was of 20/20 to 20/80, none presented alteration to ocular movements or ptosis. 5(50%) eyes had polychromatic cataract, one eye had pigmentary changes in macula and 1 (10%) eye had epiretinal membrane, 5 (50%) eyes with peripheral pigmentary changes, one eye with peripheral predisposing lesions, we performed a macular optic coherence tomography 100% of cases without alterations in structure and non vascular alteration detected with OCTa. The microperimetric findings were 10 eyes had stable macular fixation, however 7 (70%) eyes had abnormal macular sensitivity, 2 (20%)eyes with subnormal macular sensitivity and only one eye with normal macular sensitivity (10%).
Conclusions :
In this study we found that the most frequent finding was polychromatic cataract (50%) as in the previous reports, also the peripheral pigmentary changes was presente in 5(50%) eyes. 90% of cases presented alterations in macular sensitivity even before presenting visible changes to fundoscopy and structural changes by OCT, there are reports in which they have found changes in the amplitude and time implicit in the electroretinogram in symptomatic patients, we believe that it is worthwhile performing electrofisiology studies to presymptomatic patients and assess if there is a correlation with changes in macular sensitivity and the number of triplets. It is required to increase the number of cases. The alterations found in macular sensitivity could be related to the age of the patients as well as being the first manifestation in these patients.
This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.