Prominent corneal nerves have been identified as a diagnostic feature of lipid proteinosis (LP)
Prominent corneal nerves have been identified as a diagnostic feature of lipid proteinosis (LP), claims a study in the British Journal of Ophthalmology.
Dr Yasser H. Al-Faky et al., Ophthalmology Department, College of Medicine, King Saud University, Saudi Arabia, conducted a detailed longitudinal evaluation of seven LP patients and nine unaffected individuals. The Nidek confoScan 4 and direct sequencing of the extracellular matrix protein 1 gene was used to perform confocal microscopic examinations.
All LP patients had homozygous mutations in extracellular matrix protein 1 and four patients were examined every six months, starting from infancy. It was discovered that globe and vision were normal in all particpants, with moniliform blepharosis appearing after four years of age.
All patients presented with prominent corneal nerves, regardless of age. The corneal nerves were more prominent in patients with severe genetic mutations. Severity of moniliform blepharosis appeared to be more affected by age rather than genotype.
The discovery of prominent corneal nerves as a diagnostic feature can be used to detect LP at a much earlier stage.