Common clinical features of unilateral retinal pigment epithelium dysgenesis and combined hamartoma of the retina and retinal pigment epithelium

Zhe Zhu,Chenchen Zhang,He Zou,Jun Xiao,Bo Yang,Lifu Luo

doi:10.1186/s12886-022-02244-x

Abstract

BackgroundHerein, we report two cases of unilateral retinal pigment epithelium dysgenesis (URPED) in Chinese patients and explore the relationship between URPED and combined hamartoma of the retina and retinal pigment epithelium (CHRRPE).Case presentationThe lesion margins in the two cases showed pathognomonic clinical features of URPED, namely, a scalloped reticular margin in hyperplastic retinal pigment epithelium and mild fibrosis. The hypoautofluorescence observed by fundus autofluorescence was inverted compared with that observed by fundus fluorescence angiography. A large amount of fibroglial proliferation and disorganization of the retina involving the whole layer, which are also found in peripapillary CHRRPE, were found in the lesions.ConclusionsURPED appears to share some clinical features with CHRRPE, and the relationship between URPED and CHRRPE needs further study.

Highlights

We report two cases of unilateral retinal pigment epithelium dysgenesis (URPED) in Chinese patients and explore the relationship between URPED and combined hamartoma of the retina and retinal pigment epithelium (CHRRPE).Case presentation: The lesion margins in the two cases showed pathognomonic clinical features of URPED, namely, a scalloped reticular margin in hyperplastic retinal pigment epithelium and mild fibrosis
URPED appears to share some clinical features with CHRRPE, and the relationship between URPED and CHRRPE needs further study
The characteristic clinical features of the disease are the distinctive scalloped margin of reticular RPE hyperplasia and fibrosis changes and the remarkable dark reticular pattern presented on fundus autofluorescence (FAF), which is inverted relative to the