Ocular Phenotype of Peters-Plus Syndrome

Area of Science:

• Ophthalmology
• Genetics
• Biochemistry

Background:

• Peters-plus syndrome is a rare autosomal recessive congenital disorder of glycosylation.
• Mutations in the B3GLCT gene cause Peters-plus syndrome.
• Detailed ocular findings for Peters-plus syndrome are not well-documented in scientific literature.

Observation:

• This case series reports on four patients diagnosed with Peters-plus syndrome.
• Ocular phenotyping included anterior segment optical coherence tomography and ultrasound biomicroscopy.
• Histology of host corneal buttons was examined where available.

Findings:

• The most common ocular finding was an avascular paracentral ring opacity with central clearing, caused by iridocorneal adhesion and posterior stromal thinning.
• One eye presented with persistent fetal vasculature and microphthalmia, a novel observation for this syndrome.
• A distinct phenotype of a large, vascularized central corneal opacity was observed in two eyes.

Implications:

• This study provides a detailed description of the ocular manifestations of Peters-plus syndrome.
• The findings expand the known spectrum of ocular phenotypes associated with B3GLCT gene mutations.
• Enhanced understanding of ocular findings can guide clinical diagnosis and management of Peters-plus syndrome.