Prominent corneal nerves: a novel sign of lipoid proteinosis

Br J Ophthalmol. 2012 Jul;96(7):935-40. doi: 10.1136/bjophthalmol-2012-301617. Epub 2012 May 12.

Abstract

Aim: Detailed longitudinal evaluation of corneal and other ophthalmological features of patients with lipoid proteinosis (LP).

Methods: Ophthalmological examinations, chart review, ultrasound biomicroscopy, corneal confocal microscopic examinations with Nidek confoScan 4 and direct sequencing of the extracellular matrix protein 1 gene in individuals from three consanguineous Saudi families with LP.

Results: Seven individuals affected with LP (four female and three male subjects) were evaluated together with nine unaffected parents and siblings. All affected individuals had homozygous mutations in extracellular matrix protein 1. Four patients were examined frequently (every 6 months) beginning in infancy and early childhood. Globe and vision were normal in all individuals, and moniliform blepharosis always appeared after the age of 4 years. Prominent corneal nerves were detected in all patients regardless of age and were more apparent in patients with more severe genetic mutations. Conversely, the severity of moniliform blepharosis seemed age-dependent rather than genotype-related.

Conclusion: Prominent corneal nerves can be helpful in the early diagnosis of LP and should be added to the list of LP ophthalmological diagnostic features.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Consanguinity
  • Cornea / innervation*
  • Cranial Nerve Diseases / diagnosis*
  • Cranial Nerve Diseases / genetics
  • Extracellular Matrix Proteins / genetics
  • Female
  • Humans
  • Lipoid Proteinosis of Urbach and Wiethe / diagnosis*
  • Lipoid Proteinosis of Urbach and Wiethe / genetics
  • Longitudinal Studies
  • Male
  • Microscopy, Acoustic
  • Microscopy, Confocal
  • Mutation
  • Ophthalmic Nerve / pathology*
  • Pedigree
  • Visual Acuity
  • Young Adult

Substances

  • ECM1 protein, human
  • Extracellular Matrix Proteins