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JAMA Ophthalmology Clinical Challenge
July 1, 2021

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

Author Affiliations
  • 1Department of Ophthalmology, Geneva University Hospitals, Geneva, Switzerland
JAMA Ophthalmol. 2021;139(9):1035-1036. doi:10.1001/jamaophthalmol.2020.6852

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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1 Comment for this article
The dilemma of treating rare conditions effectively
Sandro Tsang, PhD | People's Open Access Education Initiative
The DMD-associated proliferative retinal vasculopathy is a rare condition. The authors suggest performing periodic ophthalmic testing. From a perspective of cost containment, it would be interesting to find out the right time for including it as a routine DMD care procedure. DMD itself is a rare condition. Perhaps assessing the cost-effectiveness of including it as a routine DMD becomes unnecessary. This raises a question whether we should set a boundary for applying economic evaluation to assessing medicine.