Research Article: Structural changes in the retinal layers of patients with Steinert disease
Abstract:
The purpose of this study was to evaluate the different retinal layers of the posterior pole protocol and peripapillary areas in optical coherence tomography (OCT) to identify significant changes attributable to Steinert disease.
We analyzed 128 eyes of healthy control subjects and 79 eyes of patients with Steinert disease. We performed the posterior pole and Nsite analytics peripapillary protocols on all subjects and compared thicknesses in the retinal nerve fiber layer (RNFL), ganglion cell layer (GCL), inner plexiform layer (IPL), inner nuclear layer (INL), outer plexiform layer (OPL), outer nuclear layer (ONL), retinal pigment epithelium (RPE), and complete retina (RETINA).
Patients with Steinert disease showed significant alterations in retinal layer thickness compared with age-matched controls. Overall, a generalized thickening of retinal layers was observed; significant thickening of the RNFL was also found in the temporal area of the optic nerve and in the papillomacular bundle, which comprises the retinal ganglion cell axons connecting the macula with the optic nerve.
Steinert disease is associated with retinal structural alterations in retinal layer structure, OCT may provide potential structural markers of retinal involvement in Steinert disease.
Introduction:
Steinert disease, or type 1 myotonic dystrophy (DM1), is caused by an abnormal expansion of the CTG triplet in the untranslated region of the DMPK gene. This disease impacts multiple body systems. It is primarily characterized by progressive muscular weakness and myotonia. In addition to muscular manifestations, patients may experience a variety of ocular symptoms, cardiac issues, and endocrine dysfunction, rendering it a multisystemic disease ( 1 ). It leads to production of dysfunctional proteins that impair…
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