Clinical and basic aspects of gelatinous drop-like corneal dystrophy

Dev Ophthalmol. 2011:48:97-115. doi: 10.1159/000324079. Epub 2011 Apr 26.

Abstract

Gelatinous drop-like corneal dystrophy (GDLD) was first reported in 1914 as a peculiar corneal dystrophy with an autosomal recessive inheritance mode. GDLD is rare in many countries, but relatively prevalent in Japan. The typical finding of GDLD is grayish, mulberry-like, protruding subepithelial depositions with a prominent hyperfluorescence of the cornea. Histologically, GDLD corneas are characterized by subepithelial amyloid depositions that were identified as lactoferrin by amino acid sequencing analysis. In 1998, the TACSTD2 gene was identified as a causative gene for this disease through a linkage analysis and a candidate gene approach. To date, 14 reports have demonstrated 21 mutations comprised of 9 missense, 6 nonsense, and 6 frameshift mutations from 9 ethnic back grounds. Currently, it is hypothesized that the loss of TACSTD2 gene function causes decreased epithelial barrier function, thereby facilitating tear fluid permeation into corneal tissue, the permeated lactoferrin then transforming into amyloid depositions via an unknown mechanism. For the visual rehabilitation of patients with GDLD, ophthalmologists currently employ various types of keratoplasties; however, almost all patients will experience a recurrence of the disease within a few years after such interventions. Wearing of a soft contact lens is sometimes considered as an alternative treatment for GDLD.

Publication types

  • Review

MeSH terms

  • Amyloidosis, Familial* / diagnosis
  • Amyloidosis, Familial* / epidemiology
  • Amyloidosis, Familial* / genetics
  • Cornea / metabolism
  • Cornea / pathology*
  • Corneal Dystrophies, Hereditary* / diagnosis
  • Corneal Dystrophies, Hereditary* / epidemiology
  • Corneal Dystrophies, Hereditary* / genetics
  • DNA / genetics*
  • Diagnosis, Differential
  • Gelatin / genetics*
  • Humans
  • Incidence
  • Japan / epidemiology
  • Microscopy, Acoustic
  • Mutation*
  • Pedigree

Substances

  • Gelatin
  • DNA

Supplementary concepts

  • Corneal dystrophy, gelatinous drop-like