Histopathological examination of two cases of anterior staphyloma associated with Peters' anomaly and persistent hyperplastic primary vitreous

Abstract

Aims-To clarify the developmental mechanism and critical period for the uncommon complex of Peters' anomaly and persistent hyperplastic primary vitreous (PHPV). Methods-Two eyes with Peters' anomaly and PHPV were histologically examined by serial section. One eye was enucleated at age 7 months (case 1) and the other at age 4 months (case 2) owing to severe anterior staphyloma. Results-In both eyes, defects in the endothelium, Descemet's membrane, and posterior stroma were observed in the central cornea, and the degenerative lens adhered to the posterior surface of the defective corneal stroma. Also, in both eyes, the anterior chamber space was not formed and the undiVerentiated iris stroma adhered to the posterior surface of the peripheral cornea. Mesenchymal tissue containing melanocytes was observed behind the degenerative lens, and the pigment epithelium was absent at the lower nasal side of the ciliary body in case 1. In case 2, mesenchymal tissue containing scattered melanocytes in the vitreous cavity was seen on the posterior retina. Based on the histological findings, both cases were diagnosed as Peters' anomaly caused by the faulty separation of the lens vesicle, PHPV, maldevelopment of the iris and ciliary body, and goniodysgenesis. Conclusion-Migratory disorders of neural crest cells from 4 to 7 weeks of gestation may be responsible for various ocular anomalies including Peters' anomaly and PHPV, as observed in these cases.

Case of novel PITX2 gene mutation associated with Peters' anomaly and persistent hyperplastic primary vitreous

“…2 This hypothesis is consistent with recent findings that PITX2 expression in neural crest cells is observed not only in the anterior segment but also in the vitreous cavity at embryonic day 12.5 in mice. 3 Moreover, the deletion of 6p25, on which FOXC1 is located, which has a functional link with PITX2, 4 was reported to be associated with PHPV and Axenfeld-Rieger syndrome, 5 a syndrome thought to present the same spectrum of defects as Peters' anomaly.…”

Epidermal nevus syndrome associated with anterior scleral staphyloma and ectopic bone and cartilaginous intraocular tissue

“…2 was performed out of cosmetic necessity, no similar patient has previously presented with an anterior staphylomatous mass from scleral thinning. Matsubara et al 5 suggested that maldevelopment of the iris stroma, ciliary stroma, goniodysgenesis, and typical coloboma as a result of a developmental disorder of neural crest cells causes an undifferentiated chamber angle, which is responsible for anterior staphyloma. Although the present case did not show coloboma of the uvea or sclera, we did confi rm the hypoplastic iris, ciliary body, and sclera.…”

Congenital corneal opacities – a surgical approach to nomenclature and classification

“…30 In fact a mouse model has also been produced of this phenotype. 31 Whether the pathogenesis is due to a mechanical pushing forward of the lens or not, is at present unclear.…”