[Retinal involvement and genetic myopathy].

[coats disease]

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 ).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 .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 .

Diseases
Validation

Diseases presenting "large number" symptom

acute rheumatic fever

adrenal incidentaloma

allergic bronchopulmonary aspergillosis

canavan disease

coats disease

cowden syndrome

dedifferentiated liposarcoma

dracunculiasis

epidermolysis bullosa simplex

fabry disease

familial mediterranean fever

gm1 gangliosidosis

heparin-induced thrombocytopenia

hereditary cerebral hemorrhage with amyloidosis

hirschsprung disease

kindler syndrome

legionellosis

malignant atrophic papulosis

neuralgic amyotrophy

phenylketonuria

pleomorphic liposarcoma

primary effusion lymphoma

scrub typhus

severe combined immunodeficiency

triple a syndrome

waldenström macroglobulinemia

well-differentiated liposarcoma

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

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