[Retinal involvement and genetic myopathy].
BACKGROUND
In genetic diseases, association between retinal and muscular involvement is uncommon, quite specific and frequently allows the diagnosis. In this context, three types of retinal involvement have been described: retinitis pigmentosa (RP), pattern retinal dystrophy (PRD) and exudative retinitis resembling Coats disease (CD).


BACKGROUND
The association between RP, PRD and muscle weakness is highly evocative of a mitochondrial disorder. Extra ocular muscles may be affected, but limb girdle or distal weakness can also be present in association or not with symptoms and signs of multisystemic involvement. In a large number of patients suffering from facioscapulohumeral muscular dystrophy (FSHD), retinal vessels telangectasia can be found at the fundoscopic examination. This finding, which corresponds to a developmental abnormality of peripheral retinal blood vessels, is not progressive and remains clinically asymptomatic. Nevertheless, a few patients with FSHD can develop an exsudative retinopathy resembling Coats disease with the risk of the major complication, recurrent retinal detachments.


CONCLUSIONS
Considering the diagnostic interest and the deleterious consequences that may follow retinal involvement, close collaboration between the neurologist and ophthalmologist is needed in order to establish the diagnosis, detect complications early, and set up appropriate therapies.
Centre de référence des maladies neuromusculaires et SLA, hôpital Archet 1, CHU de Nice, 151, route de Saint-Antoine-de-Ginestière, 06202 Nice, France. sacconi.s@chu-nice.dr
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Desnuelle
D003317:Corneal Dystrophies, Hereditary / Q000235:genetics / Q000473:pathology; D006801:Humans; D009135:Muscular Diseases / Q000235:genetics / Q000473:pathology*; D058499:Retinal Dystrophies / Q000235:genetics* / Q000473:pathology*; D058456:Retinal Telangiectasis / Q000235:genetics / Q000473:pathology; D012173:Retinitis / Q000235:genetics / Q000473:pathology*; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000473:pathology*