Rare Diseases Symptoms Automatic Extraction

In vivo confocal microscopy of congenital aniridia-associated keratopathy.

[aniridia]

To explore the in vivo morphological changes of cornea and limbus in aniridia-associated keratopathy (AAK).Three cases of AAK were examined with the application of in vivo confocal microscopy (IVCM).Abnormal structure of wing and basal layer of epithelium, the loss of subbasal nerves, and the presence of goblet cells at central cornea could be identified in the most severe case, along with the absence of Vogt palisades. The less extent of abnormalities in corneal epithelial cells, subbasal nerve, and Vogt palisades were visible in the moderate or mild cases.The morphological changes of cornea and limbus vary in AAK, and IVCM is a promising tool to determine the degree of limbal stem cell deficiency in patients with AAK.

Diseases presenting "morphological changes" symptom

  • aniridia
  • erythropoietic protoporphyria
  • esophageal carcinoma
  • fabry disease
  • kallmann syndrome
  • pyruvate dehydrogenase deficiency
  • trochlear dysplasia
  • wiskott-aldrich syndrome
  • zellweger syndrome

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