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Bilateral Visual Acuity Loss in a 28-Year-Old Man With Duchenne Muscular Dystrophy

Educational Objective
Based on this clinical scenario and the accompanying image, understand how to arrive at a correct diagnosis.
1 Credit CME

A 28-year-old man with Duchenne muscular dystrophy (DMD) presented with a recent bilateral and painless decrease of best-corrected visual acuity to light perception OD and counting fingers OS. Results of a slitlamp examination showed iris neovascularization and posterior subcapsular cataract in the right eye and no anterior segment abnormalities, including no iris neovascularization, in the left eye. Intraocular pressure was 60 mm Hg in the right eye and 14 mm Hg in the left eye. The fundus in the right eye (Figure, A) showed a total retinal detachment with hemorrhagic prepapillary fibrosis reaching up to the posterior capsule; the left eye (Figure, B) showed peripapillary tractional retinal detachment with proliferative vitreoretinopathy, retinal neovascularization, and vitreous hemorrhage. Fluorescein angiography showed extensive retinal capillary and arteriolar nonperfusion and peripapillary neovascularization in both eyes.

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Duchenne muscular dystrophy–associated proliferative retinal vasculopathy

B. Contact the patient’s general practitioner and cardiologist to obtain hemoglobin and cardiac ejection fraction levels

Duchenne muscular dystrophy is a severe X-linked recessive muscular dystrophy caused by absent or altered dystrophin production with an incidence of 1 per 3500 male births.1 First symptoms appear around 3 to 5 years of age with most patients requiring the use of a wheelchair by age 12 years. The median survival is 24 to 27 years with major reported causes of death attributable to heart failure and respiratory insufficiency.

Duchenne muscular dystrophy–associated proliferative retinal vasculopathy is a rare and rapidly progressive retinal disorder described in patients with DMD, usually after age 20 (range, 18-30) years.27 Extensive areas of retinal capillary and arteriolar nonperfusion can lead to widespread peripapillary neovascularization. Patients may present late with advanced disease and fronds of neovascular tissue emanating from the optic nerve and iris neovascularization.

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Article Information

Corresponding Author: Mateusz Kecik, MD, Department of Ophthalmology, Geneva University Hospitals, Rue Alcide-Jentzer 22, 1205 Geneva CH, Switzerland (matkecik@gmail.com).

Published Online: July 1, 2021. doi:10.1001/jamaophthalmol.2020.6852

Conflict of Interest Disclosures: None reported.

Additional Contributions: We thank the patient for granting permission to publish this information.

References
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Ober  MD , Del Priore  LV , Tsai  J ,  et al.  Diagnostic and therapeutic challenges.   Retina. 2006;26(4):462-467.PubMedGoogle ScholarCrossref
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Fagan  XJ , Levy  J , Al-Qureshi  S , Harper  CA .  Proliferative retinopathy in Duchenne muscular dystrophy and its response to bevacizumab.   Clin Exp Ophthalmol. 2012;40(9):906-907. doi:10.1111/j.1442-9071.2012.02822.xPubMedGoogle ScholarCrossref
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Hahn  P , Lin  P , Fekrat  S .  Ultra-widefield imaging of Duchenne muscular dystrophy-associated proliferative retinal vasculopathy improved with panretinal laser photocoagulation alone.   Ophthalmic Surg Lasers Imaging Retina. 2013;44(3):293-295. doi:10.3928/23258160-20130503-17PubMedGoogle ScholarCrossref
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Park  SH , Jo  YJ , Lee  JJ , Park  SW , Lee  JE .  Proliferative retinopathy developed in a Duchenne muscular dystrophy patient with normal cardiac function.   J Retin. 2019;4(1):36-39. doi:10.21561/jor.2019.4.1.36Google ScholarCrossref
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Pillers  DA .  Dystrophin and the retina.   Mol Genet Metab. 1999;68(2):304-309. doi:10.1006/mgme.1999.2929PubMedGoogle ScholarCrossref
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Nico  B , Marzullo  A , Corsi  P , Vacca  A , Roncali  L , Ribatti  D .  A possible role of tryptase in angiogenesis in the brain of mdx mouse, a model of Duchenne muscular dystrophy.   Neuroscience. 2004;123(3):585-588. doi:10.1016/j.neuroscience.2003.11.006PubMedGoogle ScholarCrossref
10.
El Mathari  B , Sene  A , Charles-Messance  H ,  et al.  Dystrophin Dp71 gene deletion induces retinal vascular inflammation and capillary degeneration.   Hum Mol Genet. 2015;24(14):3939-3947. doi:10.1093/hmg/ddv132PubMedGoogle ScholarCrossref
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