Terminology of Peters’ anomaly variants: Summary of histopathological findings in 6 corneas and detailed clinicopathological correlation in 2 cases

Abstract

Peters’ anomaly accounts for the highest type of Anterior Segment Dysgenesis (ASD). The main features of Peters’ anomaly are: congenital corneal opacity centrally, defect in the posterior stroma and absence of Descemet’s membrane and the endothelium. However, this condition has wide clinical and histopathological variations in appearance, associations and severity. In this case series, we summarize 6 corneas in 5 Saudi cases of Peters’ anomaly (and describe 2 in detail) with unique histopathological findings that are additional to the typical known ones, shedding some light on the nomenclature of these variants according to the reported cases in the English-written literature. This will widen the spectrum of findings known to ophthalmic pathologists and ophthalmologists about this anomaly. This is also of importance in the assessment of the congenital glaucoma cases commonly seen in Saudi Arabia that often happens in association with ASD.

Peter’s anomaly—A homeotic gene disorder

“…There is a deficiency of the central posterior corneal stroma, endothelium and Descemet membrane 5,13,14 . There is also irido‐corneal synechiae, and Bowman's layer can be absent or hyperplastic 5,13,14 .…”

“…In addition, diffuse thickening of Bowman's layer, irregular atrophic epithelium and fibrosis of corneal stroma can be seen. There are some reports of thick multi‐laminated Descemet's membrane and compressed posterior stromal lamellae 5,13–15 . Peter's anomaly type II generally has the corneal and lenticular abnormalities.…”

“…Here, the condition is often autosomal recessive due to homozygous mutations in B3GLCT 10–12 . This results in loss of glycosylation of the beta 1,3 glucosyltransferase enzyme 13 …”

“…[9][10][11][12] There is a deficiency of the central posterior corneal stroma, endothelium and Descemet membrane. 5,13,14 There is also irido-corneal synechiae, and Bowman's layer can be absent or hyperplastic. 5,13,14 In addition, diffuse thickening of Bowman's layer, irregular atrophic epithelium and fibrosis of corneal stroma can be seen.…”

“…There are some reports of thick multi-laminated Descemet's membrane and compressed posterior stromal lamellae. 5,[13][14][15] Peter's anomaly type II generally has the corneal and lenticular abnormalities. Other histopathological findings include a multiple-layer Descemet's membrane, the absence of Bowman's membrane and corneal endothelium, hypoplasia of the cornea stroma and adhesions of iris to the cornea.…”