G.P.111 Exudative retinopathy in facioscapulohumeral muscular dystrophy: When to screen? When to monitor? When to treat?

Abstract

Abstract Visual loss caused by exudative retinal detachment is a rare but preventable association of FSHD. Underlying peripheral retinal vascular telangiectasis is however very common. Focal retinal hypovascularity may be a developmental abnormality parallel to aberrations in myogenesis. Since asymptomatic telangiectasis appears likely to remain static for many years, the question arises as to proper practice in relation to indirect ophthalmoscopic screening of FSHD patients, particularly children, and if and when to treat visualized exudates, which may track from the retinal periphery to the posterior pole. Accumulated international experience has demonstrated the efficacy of unusually aggressive and frequent treatment, typically with Laser photocoagulation directed at leaking vessels, even when vision is significantly impaired. However, once macular damage is established, visual loss may be irreversible. In advanced stages, painful glaucoma may lead to enucleation. Family follow-up now underlines the particular importance of reviewing patients from FSHD families with a history of overt retinal vascular disease. Two members of one family lost vision unilaterally in mid-life; only one seen early enough to treat successfully. Retinal abnormalities are (like the myopathy) asymmetrical; bilateral visual loss is rare but real. It is concluded that (i) severe and early-onset FSHD patients with clinical deafness are more likely to have treatable retinal exudates, and should be monitored closely, especially in early childhood. (ii) Retinal disease may present before muscle disease. (iii) Atypical cases of Coats Disease (e.g. when bilateral, in women, or in older patients) may justify genetic testing, with caution, for FSHD. (iv) All FSHD patients should have one indirect ophthalmoscopy examination and report unexplained visual symptoms immediately. (v) Peripheral exudates should be monitored closely, but exudates threatening the macula will mandate urgent treatment.