A spectrum of clinical manifestations of gelatinous drop-like corneal dystrophy in japan

Am J Ophthalmol. 2004 Jun;137(6):1081-4. doi: 10.1016/j.ajo.2004.01.048.


Purpose: Typical manifestations of gelatinous drop-like corneal dystrophy (GDLD) have been documented in past studies. In practice, however, we see few typical cases and encounter many with atypical clinical manifestations. Moreover, there have been no detailed reports about the various clinical presentations. The purpose of this study is to describe a clinical subclassification for GDLD.

Design: Observational case series.

Methods: A retrospective, observational case series study was conducted at a single institution, Osaka University Hospital. Examined were 18 eyes of ten patients with GDLD with no prior surgery. All were found to have M1S1 mutations. Using slit-lamp examinations we performed a phenotypic classification.

Results: We classified GDLD patients into four groups. They included band keratopathy type (seven eyes of four patients), stromal opacity type (five eyes of three patients), kumquat-like type (four eyes of two patients), and typical mulberry type (two eyes of two patients).

Conclusions: Gelatinous drop-like corneal dystrophy is thought to be the result of mutations in M1S1; however, it has various clinical manifestations. To our knowledge, this study is the first to report the range of clinical phenotypes of GDLD in a Japanese population. As most clinicians have no criteria for diagnosing GDLD, many cases are likely to be overlooked or be mistaken for other conditions. We believe that our present classification will be useful for the diagnosis of GDLD.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Amyloidosis / classification
  • Amyloidosis / diagnosis*
  • Amyloidosis / genetics
  • Antigens, Neoplasm / genetics
  • Cell Adhesion Molecules / genetics
  • Corneal Dystrophies, Hereditary / classification
  • Corneal Dystrophies, Hereditary / diagnosis*
  • Corneal Dystrophies, Hereditary / genetics
  • Corneal Opacity / diagnosis
  • Corneal Stroma / pathology
  • DNA Mutational Analysis
  • Epithelial Cell Adhesion Molecule
  • Female
  • Humans
  • Japan
  • Male
  • Middle Aged
  • Mutation
  • Phenotype
  • Polymerase Chain Reaction
  • Retrospective Studies


  • Antigens, Neoplasm
  • Cell Adhesion Molecules
  • Epithelial Cell Adhesion Molecule