Atypical retinal pigment epithelial defects with retained photoreceptor layers: a so far disregarded finding in age related macular degeneration.

Giannakaki-Zimmermann, Helena; Querques, Giuseppe; Munch, Inger Christine; Shroff, Daraius; Sarraf, David; Chen, Xuejing; Cunha-Souza, Eduardo; Mrejen, Sarah; Capuano, Vittorio; Rodrigues, Murilo W; Gupta, Charu; Ebneter, Andreas; Zinkernagel, Martin; Munk, Marion (2017). Atypical retinal pigment epithelial defects with retained photoreceptor layers: a so far disregarded finding in age related macular degeneration. BMC ophthalmology, 17(1), p. 67. BioMed Central 10.1186/s12886-017-0452-0

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BACKGROUND To report patients with age-related macular degeneration and atypical central retinal pigment epithelium (RPE) defects not attributable to geographic atrophy (GA) or RPE-tears with overlying preserved photoreceptor layers. METHODS Multimodal imaging case-series evaluating the course of atypical RPE- defects in patients with AMD using Color fundus images, Optical coherence tomography (OCT), OCT-Angiography, fundus autofluorescence (FAF) and fluorescein-angiography (FA). RESULTS Ten patients were identified. Three patients had a prior RPE-rip and were excluded. Seven patients with a mean follow-up period of 47 ± 38 months after the occurrence of the RPE-defect were included (age range 71-87 years). Mean distance Best corrected visual acuity (BCVA) at initial presentation was 0.36 ± 0.29logMAR and at last follow-up visit 0.51 ± 0.43logMAR. Patients presented with clinically apparent GA on funduscopy and FAF, but preserved photoreceptor layers on optical coherence tomography (OCT). On FA there was early hyperfluorescence and late pooling visible. Over time, migration of RPE/drusenoid material right above the Bruch's membrane with concomitant decrease of hypoautofluorescence was detectable in 4 cases. An enlargement of the RPE-defect was apparent in the remaining 3 cases. The majority (n = 4) showed a drusenoid pigment epithelium detachment (PED) preceding the lesion. CONCLUSIONS Beside GA and characteristic RPE-tears, another atypical form of RPE-defect with overlying preserved photoreceptor layers are found in AMD. This so far disregarded subgroup of patients present with reasonable visual function and long-term survival of photoreceptors layers. Repair mechanisms such as ingrowth of RPE/drusenoid material and persistent subretinal fluid (SRF), but also a RPE-independent visual cycle for cone photopigment within the neurosensory retina may contribute to their favorable course.

Item Type:

Journal Article (Original Article)


04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Ophthalmology

UniBE Contributor:

Zimmermann, Helena; Ebneter, Andreas; Zinkernagel, Martin and Munk, Marion


600 Technology > 610 Medicine & health




BioMed Central




Marion Munk

Date Deposited:

14 Dec 2017 08:03

Last Modified:

24 Oct 2019 06:01

Publisher DOI:


PubMed ID:


Uncontrolled Keywords:

Age-related macular degeneration Geographic atrophy Photoreceptor RPE tear RPE-aperture




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