Dual corneal involvement by endothelial and epithelial corneal dystrophies in Steinert’s disease: A case of triple dystrophy
| Autor: | A. Gargallo-Benedicto, Antonio Duch-Samper, R. Clemente-Tomás, V.T. Pérez-Torregrosa |
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| Rok vydání: | 2019 |
| Předmět: |
Male
0301 basic medicine medicine.medical_specialty genetic structures Vision Disorders Visual Acuity Corneal dystrophy Slit Lamp Microscopy Myotonic dystrophy Tonometry Ocular 03 medical and health sciences 0302 clinical medicine Ophthalmology Cogan Syndrome Humans Myotonic Dystrophy Medicine Intraocular Pressure Basement membrane business.industry Fuchs' Endothelial Dystrophy Dystrophy General Medicine Middle Aged medicine.disease eye diseases 030104 developmental biology medicine.anatomical_structure 030221 ophthalmology & optometry sense organs business Tomography Optical Coherence Fuchs Endothelial Corneal Dystrophy |
| Zdroj: | European Journal of Ophthalmology. 31:NP23-NP26 |
| ISSN: | 1724-6016 1120-6721 |
| DOI: | 10.1177/1120672119872374 |
| Popis: | Introduction: A case of dual corneal involvement due to Fuchs endothelial corneal dystrophy and epithelial basement membrane corneal dystrophy in a patient with Steinert’s myotonic dystrophy type 1 is described, and a literature review on the triple association is made. Case description: A 52-year-old male diagnosed with myotonic dystrophy type 1 presented due to progressive bilateral vision loss during the past year. A full ophthalmological evaluation was made, with biomicroscopy, funduscopy, anterior segment optical coherence tomography, and endothelial cell count using specular microscopy. Exploration revealed bilateral superior palpebral ptosis, visual acuity 0.5 in the right eye and 0.3 in the left eye, and with an intraocular pressure of 11 and 10 mmHg, respectively. Biomicroscopy revealed map-dot-fingerprint lesions characteristic of epithelial basement membrane corneal dystrophy in both eyes, as well as abundant endothelial guttae due to Fuchs endothelial corneal dystrophy (stage II) and bilateral nuclear and posterior subcapsular cataracts. Specular microscopy in turn showed cell loss and a destructured endothelial map. Finally, anterior segment optical coherence tomography revealed the accumulation of epithelial basement membrane and hyperreflective endothelial excrescences corresponding to guttae. Conclusion: The association of Fuchs endothelial corneal dystrophy with myotonic dystrophy has been described and explained by a common genetic basis in the expansion of a CTG trinucleotide repeat, though this is the first reported case of the triple association of Fuchs endothelial corneal dystrophy, epithelial basement membrane corneal dystrophy, and myotonic dystrophy type 1. New mutations or still unknown genetic alterations could possibly explain the triple association reported in our case. |
| Databáze: | OpenAIRE |
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