Reader response: A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1

We read with interest the article reporting on facioscapulohumeral muscular dystrophy (FSHD) type 1 probands and their relatives. Penetrance of FSHD, based on muscle symptoms, depends on D4Z4 repeat size and continues to increase in adulthood.¹ It would be interesting to study the penetrance of retinal vasculopathy in this family by using optical coherence tomography angiography, a noninvasive imaging technique that acquires volumetric angiographic information without the use of a dye. Indeed, according to the existing literature, only a systematic examination of eye fundus can detect telangiectasia and aneurysms, which may be present early in life before evidence of muscle disease.² Very few complaints related to retinal alteration have been reported by patients with FSHD, as retinal lesions rarely affect the macula. A more severe retinal vasculopathy, known as Coats-like retinopathy, is observed by fluorescein angiography in 40%–75% of patients with FSHD. However, retinal findings prior to the diagnosis of FSHD are only detected in very rare cases.^3–5

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