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Cornea verticillata in Fabry disease.

S V Moiseev1,2, D S Ismailova3, A S Moiseev2

  • 1I.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University), Moscow, Russia.

Terapevticheskii Arkhiv
|February 1, 2019
PubMed
Summary

Cornea verticillata, a key sign of Fabry disease, appears in 65% of adult patients. This finding, linked to GLA gene mutations, does not correlate with disease severity.

Keywords:
Fabry diseaseMSSI indexcornea verticillata

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Area of Science:

  • Genetics
  • Ophthalmology
  • Rare Diseases

Background:

  • Fabry disease is a rare genetic disorder caused by mutations in the GLA gene.
  • Cornea verticillata is a characteristic ocular finding in Fabry disease.

Purpose of the Study:

  • To determine the frequency of cornea verticillata in adult Fabry disease patients.
  • To investigate the association between cornea verticillata, Fabry disease severity, and GLA gene mutations.

Main Methods:

  • Studied 69 adult patients with classic Fabry disease.
  • Assessed disease severity using the Mainz Severity Score Index (MSSI).
  • Correlated cornea verticillata presence with clinical symptoms, MSSI scores, and GLA gene mutation types.

Main Results:

  • Cornea verticillata was observed in 65.2% of patients, with similar frequencies in males and females.
  • It was rarely the sole symptom, usually co-occurring with angiokeratoma, neuropathic pain, or hypohidrosis.
  • No significant association was found between cornea verticillata and disease severity (MSSI scores) or specific GLA gene mutations.

Conclusions:

  • Cornea verticillata is a frequent finding in adult Fabry disease patients.
  • Its presence does not predict disease severity or correlate with specific GLA gene mutations.
  • Cornea verticillata is typically one of several manifestations of Fabry disease.