Corneal ectasia associated with posterior lamellar opacification

Area of Science:

• Ophthalmology
• Genetics
• Corneal Diseases

Background:

• Concomitant corneal ectasia and posterior lamellar corneal opacification is a rare condition with an unclear genetic basis.
• This study aims to genetically and clinically characterize this rare phenotype in three unrelated individuals.

Observation:

• Affected individuals presented with bilateral corneal steepening, stromal thinning, and posterior lamellar opacification.
• Corneal imaging revealed conical/globular steepening, decreased thickness, and posterior stromal hyperreflectivity.
• Clinical presentation suggests a link to posterior amorphous corneal dystrophy (PACD).

Findings:

• Genetic analysis, including Sanger sequencing and copy number variation (CNV) analysis, was performed for genes associated with PACD, brittle cornea syndrome (BCS), and posterior polymorphous corneal dystrophy (PPCD).
• No pathogenic deletions or mutations were found in the tested genes or loci.
• This indicates that the observed phenotype is not caused by known genetic factors for PACD, BCS, or PPCD.

Implications:

• Corneal ectasia can co-occur with posterior lamellar stromal opacification resembling PACD.
• The genetic etiology of this combined condition remains elusive, pointing towards undiscovered genetic factors.
• Further research is needed to identify the novel genetic underpinnings of this rare corneal disorder.