Rare Diseases Symptoms Automatic Extraction

The Clinical Characterization and Surgical Correction of Blepharoptosis Associated With Congenital Aniridia.

[aniridia]

To document the clinical characteristics and describe our management of patients with blepharoptosis associated with congenital aniridia.Consecutive retrospective case series of patients with congenital aniridia seen at a single institution (Cincinnati Eye Institute) from 1963 to 2010. Surgical correction was performed by 2 surgeons (J.A.N. and R.C.K.).Ptosis associated with congenital aniridia is marked with decreased levator function. Significant comorbid ophthalmologic disease was invariably present, particularly aniridia-associated keratopathy. Complications, most often keratopathy, were common, even following conservative correction.The degree of ptosis is significant, and levator function is typically reduced. Ocular surface viability appears to play a key role in preoperative, intraoperative, and postoperative management. While we are aware that congenital aniridia is rather rare, we believe these recommendations are generalizable to patients with severe ocular surface disease.

Diseases presenting "single institution" symptom

  • achondroplasia
  • aniridia
  • child syndrome
  • congenital diaphragmatic hernia
  • cystinuria
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • pleomorphic liposarcoma
  • von hippel-lindau disease

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