AOR
Archives of Ophthalmological Research

The Archives of Ophthalmological Research aims to publish issues related to publish articles of the highest scientific and clinical value at an international level, and accepts articles on these topics. The target audience of the journal included specialists and physicians working in ophthalmology, and other health professionals interested in these fields.

eISSN: 3023-6479
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Case Report
Ophthalmologic evaluation and management of early adult-onset classic myotonic dystrophy type 1: a case report
Abstract
Myotonic dystrophy type 1 (DM1) is an autosomal dominant disease with variable age of onset and clinical severity, involving not only the musculoskeletal system but also multiple organs including the eyes, heart, lungs, and endocrine system. A 28-year-old woman with a known diagnosis of DM1 presented with blurred vision. Ophthalmologic examination revealed bilateral blepharoptosis, hatchet-face appearance, nuclear sclerosis, and early Christmas-tree cataract with polychromatic refractile opacities. Fundus examination demonstrated hyperpigmented macular changes, while optical coherence tomography showed retinal pigment epithelial irregularities, reticular pigmentary abnormalities, mild epiretinal membrane, and increased macular thickness. Family history revealed affected father and severe congenital involvement in deceased male siblings, suggesting anticipation. Systemic evaluation showed mild intellectual disability and muscle involvement without current cardiac arrhythmia. The patient was referred for multidisciplinary follow-up including neurology, cardiology, pulmonology, and internal medicine. This case highlights the importance of ophthalmologic evaluation in recognizing early DM1 and its multisystemic involvement.

Keywords : Myotonic dystrophy 1, cataract, epiretinal membrane, blepharoptosis, retinal pigment epithelium

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Article available in :
Volume 3, Issue 2, 2026
Page : 28-30
https://doi.org/10.51271/AOR-0050
Article Information
Received : 23 May 2026
Accepted : 24 Haz 2026
Published : 30 Haz 2026
Corresponding Author :

Mehmet Canleblebici: Department of Ophthalmology, Kayseri State Hospital, Kayseri, Turkiye

[email protected]
Citation : Canleblebici M. Ophthalmologic evaluation and management of early adult-onset classic myotonic dystrophy type 1: a case report. Arch Ophthalmol Res. 2026;3(2):28-30.

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