Rare Diseases Symptoms Automatic Extraction

Ocular Findings and Treatment of a Young Boy With Coats' Plus.

[coats disease]

The authors describe a 34-month-old boy who presented with a bilateral and asymmetric exudative retinopathy with similarities to Coats' disease. The patient's medical history was remarkable for hypotonia, developmental delay, seizures, and intracranial calcifications. Genetic testing revealed a diagnosis of Coats' plus. This rare genetic disease should be in the differential diagnosis in patients who present with a bilateral and asymmetric Coats'-like retinopathy in the presence of other systemic abnormalities. [Ophthalmic Surg Lasers Imaging Retina. 2014;45:xxx-xxx.].

Diseases presenting "rare genetic disease" symptom

  • achondroplasia
  • coats disease
  • cystinuria
  • epidermolysis bullosa simplex
  • fabry disease
  • kabuki syndrome
  • lymphangioleiomyomatosis
  • pendred syndrome
  • proteus syndrome

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