Disruption in Bruch membrane in patients with Stargardt disease

Abstract

Purpose To describe the spectral domain-optical coherence tomography (SD-OCT) findings of two patients with complete defects in the retinal pigment epithelium (RPE) with disruptions in Bruch membrane in Stargardt disease (STGD1). Methods Two patients with STGD1 were referred to our clinic for further evaluation. Fundus autofluorescence (FAF), spectral domain optical coherence tomography (SD-OCT), electroretinography (ERG) and Microperimetry (MP-1) were performed to assess the retinal anatomy and function. Screening for mutations in the ABCA4 gene was carried out and detected mutations were confirmed by direct sequencing. Results Both patients had bilateral macular geographic atrophy (GA) and yellowish subretinal pisciform flecks and mutations were detected in the ABCA4 gene by chip screening. SD-OCT revealed marked atrophy of the retina in the central macula, with focal defects in the RPE with disruptions in Bruch membrane and herniation of the retina through the defect in three of four eyes. Conclusion This case report highlights the necessity for a detailed ophthalmic examination including SD-OCT of patients with STGD1.

Secondary Bruch′s membrane defects and scleral staphyloma in toxoplasmosis

“…Such a BM defect was accompanied by a localized deep scleral staphyloma, if the BM defect was located at the posterior pole. Our report extends the list of causes for secondary BM defects and includes toxoplasmotic-like retino-choroidal scars in addition to high axial myopia, Stargardt disease (Park et al 2012) and pseudoxanthoma elasticum (Spaide & Jonas 2015) as causes for BM defects. Our report also showed that a secondary BM at the posterior pole defect can be associated with a pronounced scleral staphyloma.…”

Retinal Histopathology in Eyes from a Patient with Stargardt disease caused by Compound Heterozygous ABCA4 Mutations

“…53 We found Bruch's membrane loss in the fovea using histology and cryosectioning methods. The ultrastructural analysis of the STGD donor identified increased thickening of Bruch's membrane, particularly in the central elastin lamina.…”

Interpretation of anatomic correlates of outer retinal bands in optical coherence tomography

“…present. [15][16][17][18][19] Bruch's membrane is a 2-4 mm thick acellular matrix between the RPE and choroid. 20 Since clinical OCT instruments typically provide axial resolutions 5-10 mm, accurate segmentation of Bruch's membrane under normal conditions is still challenging.…”