A novel histopathologic finding in the Descemet's membrane of a patient with Peters Anomaly: a case-report and literature review

Abstract

Background: Peters anomaly is a rare developmental abnormality of the anterior segment of the eye and is one of the main causes of congenital corneal opacities. Typically, histopathology of Peters anomaly shows immature or absent Descemet's membrane and attenuated endothelial cells in the area of the corneal opacity, in addition to thinning or absence of Bowman's membrane and defects in the posterior stroma. In this report, we present a novel histopathological finding, which has not been previously reported, in the Descemet's membrane of a patient who is clinically diagnosed with Peters anomaly.

Case presentation: A 7-years old female child with developmentally delayed was born of a normal pregnancy, labor, and delivery. Apparent bilateral corneal opacifications were present at birth. On ophthalmologic examination, the child had a visual acuity of FC/20 cm in the right eye and that of FC/10 cm in the left one. Horizontal nystagmus and congenital cataract were found in both eyes. Slit-lamp examination revealed bilateral central corneal opacities which covered the iris and pupils. High-frequency UBM and AS-OCT both showed a shallow anterior chamber with multiple areas of iridocorneal adhesions and no corneal lenticular touch in each eye. A corneal specialist performed a penetrating keratoplasty with extra-capsular cataract extraction and intraocular lens implantation. Histopathologic procedures were conducted on the host corneal button, including Hematoxylin-Eosin stain and Periodic Acid-Schiff stain. All the sections were examined by light microscopy.

Conclusion: The "multiple-layer" structure of the Descemet's membrane described in our case has not been reported before as in association with abnormalities of the cornea tissues in Peters anomaly. Such pathological finding need to be reported to enhance further understanding of the special structure of Descemet's membrane as an abnormality during embryogenesis and neural crest cell differentiations.

Fig. 1

Slit-lamp photographs of the anterior segment of the patient. a In the left eye, central corneal opacity, corectopia, anterior synechiae and whitish lens were observed. b In the right eye, central corneal opacity, corectopia, anterior synechiae and whitish lens were observed

Fig. 2

Images by AS-OCT (a) and UBM (b) of the left eye. A1, 2, AS-OCT showed a shallow anterior chamber with anterior synechiae in the left eye. B1, 2, High-frequency UBM showed a shallow anterior chamber with anterior synechiae and there was no corneal lenticular touch in the left eye

Fig. 3

Histological photographs of the cornea. a Bowman’s membrane was completely absent in the middle area of the cornea. The central internal stroma was hypoplastic and the fibers were extremely disarranged without vessels. The endothelium membrane was entirely absent from the cornea. (Periodic Acid-Schiff stain, original magnification × 10). b An abnormal thickness of Descemet’s membrane was present with the “multiple-layer” structures at the peripheral part of the defect. (Periodic Acid-Schiff stain, original magnification × 40). c The “multiple-layer” structures were found in the Descemet’s membrane and pigmented tissues could be found inside the “layers”. (Periodic Acid-Schiff stain, original magnification × 100). d The pigmented cells situated within the cornea stroma and inserted anteriorly with adhesion to the posterior part of the cornea. Absence in Descemet's membrane in the peripheral synechiae area were shown. (Periodic Acid-Schiff stain, original magnification × 100)