The characterization of functional disturbances in Chinese patients with Bietti's crystalline dystrophy at different fundus stages

Graefes Arch Clin Exp Ophthalmol. 2012 Feb;250(2):191-200. doi: 10.1007/s00417-011-1809-3. Epub 2011 Sep 3.

Abstract

Purpose: The aim of this study was to characterize the functional and clinical disturbances and screen the optimal functional tests in assessing Bietti's crystalline dystrophy (BCD) patients by a cross-sectional method.

Methods: The clinical characteristics of BCD were studied in 15 Chinese patients using fundoscopy, fundus fluorescein angiography (FFA), and autofluorescence (AF). The functional features were evaluated by full-field electroretinography (fERG), 85º and 30º perimetry, multifocal ERG (mERG), and chromatic pupillometry.

Results: The 15 patients were separated into three clinical stages according to their fundus features. fERG- and mERG- showed reduced reponses in the early stages. Substages could be further defined according to the fERG results in the intermediate stages. Reduced pupillary light reflex (PLR) activities with blue-and white-light stumili existed in all patients. The most reduced PLR activities were elicited in the advanced stage of patients who had other nonresponsive functional tests.

Conclusions: This study identified the most sensitive functional methods for assessing BCD patients, and the significance of PLR in the advanced stages. In addition, the defined-substages can help us understand the disease more clearly.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Asian People / genetics
  • Corneal Dystrophies, Hereditary / diagnosis*
  • Corneal Dystrophies, Hereditary / genetics
  • Corneal Dystrophies, Hereditary / physiopathology
  • Cross-Sectional Studies
  • Cytochrome P-450 Enzyme System / genetics
  • Cytochrome P450 Family 4
  • Electroretinography
  • Female
  • Fluorescein Angiography
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Ophthalmoscopy
  • Prospective Studies
  • Reflex, Pupillary
  • Retina / physiopathology
  • Retinal Diseases / diagnosis*
  • Retinal Diseases / genetics
  • Retinal Diseases / physiopathology
  • Visual Acuity / physiology
  • Visual Field Tests
  • Visual Fields / physiology

Substances

  • Cytochrome P-450 Enzyme System
  • CYP4V2 protein, human
  • Cytochrome P450 Family 4

Supplementary concepts

  • Bietti Crystalline Dystrophy