Ophthalmic Surgery, Lasers and Imaging Retina

Case Report 

Complicated Retinal Pigment Epithelium Humps in High Myopia

Alessandro Marchese, MD, FEBO; Maria Vittoria Cicinelli, MD, FEBO; Adriano Carnevali, MD; Enrico Borrelli, MD, FEBO; Francesco Bandello, MD, FEBO; Giuseppe Querques, MD, PhD

Abstract

This study was aimed at reporting a set of complications associated with retinal pigment epithelium (RPE) humps in high myopia. Data included three eyes from three different patients. Complications observed over RPE humps were the development of choroidal neovascularization, active inflammatory lesions of multifocal choroiditis, and simple bleeding. Regular follow-up with appropriate examinations can help to recognize these events and offer the most adequate treatment in a timely manner.

[Ophthalmic Surg Lasers Imaging Retina. 2020;51:119–123.]

Abstract

This study was aimed at reporting a set of complications associated with retinal pigment epithelium (RPE) humps in high myopia. Data included three eyes from three different patients. Complications observed over RPE humps were the development of choroidal neovascularization, active inflammatory lesions of multifocal choroiditis, and simple bleeding. Regular follow-up with appropriate examinations can help to recognize these events and offer the most adequate treatment in a timely manner.

[Ophthalmic Surg Lasers Imaging Retina. 2020;51:119–123.]

Introduction

Retinal pigment epithelium (RPE) humps have recently been described as inward elevations of the RPE over large choroidal vessels in eyes with pathologic myopia (PM).1,2 These humps can be found in about 50% of highly myopic eyes in at least one macular optical coherence tomography (OCT) scan. RPE humps are benign findings, typically not related to any retinal damage or pathologic sub-RPE material; the majority of cases are asymptomatic and do not require any treatment.3 In the first descriptive report, RPE humps were not directly associated with any sign of retinal pathology. With the prospective collection of these cases, an association between RPE humps and several sight-threatening retinal complications has been found. These cases have been named “complicated RPE humps.”

Here we report a series of complicated RPE humps, imaged by multimodal imaging. These associations are novel, and we deem they might represent relevant diagnostic findings in dealing with patients featuring PM.

Case Reports

Case 1

A 77-year-old Caucasian woman presented to our department for her periodic ophthalmic examination. Best-corrected visual acuity (BCVA) was 20/25 in the right eye (OD) and 20/200 in the left eye (OS). The anterior segment was normal. Fundus examination revealed in both eyes a tilted optic disc with myopic maculopathy (Figure 1). Macular OCT scan of the RE showed a few RPE humps complicated by “volcano-like” apertures of the RPE over large choroidal vessels. These apertures were associated with vertical hyperreflective material in the outer nuclear layer and in the outer plexiform layer (Figure 1). No accompanying intraretinal or subretinal fluid or perilesional hemorrhage was noted. After multimodal imaging, the patient was diagnosed with active multifocal choroiditis and treated with systemic prednisone; 1 month after, the inflammatory lesions were resolved.

Multimodal imaging of retinal pigment epithelium (RPE) humps associated with multifocal choroiditis. Structural optical coherence tomography (OCT; a, b) at baseline illustrated multiple RPE humps (arrowheads), some complicated by “volcano-like” apertures of the RPE (arrows). The RPE apertures were associated with vertical hyperreflective material in the outer nuclear layer and in the outer plexiform layer. Multicolor imaging (c) and fundus autofluorescence (d) revealed multiple patchy areas of RPE atrophy and lacquer cracks; fluorescein angiography (e) showed hyperfluorescence due to window effect or late staining, and minimal leakage of the dye corresponding to the RPE lesions. OCT angiography (f) excluded the presence of associated choroidal neovascularization. One month after treatment with systemic prednisone, OCT (g, h) showed resolution of the inflammatory lesions over the RPE humps (arrowheads) and reduction of choroidal thickness.

Figure 1.

Multimodal imaging of retinal pigment epithelium (RPE) humps associated with multifocal choroiditis. Structural optical coherence tomography (OCT; a, b) at baseline illustrated multiple RPE humps (arrowheads), some complicated by “volcano-like” apertures of the RPE (arrows). The RPE apertures were associated with vertical hyperreflective material in the outer nuclear layer and in the outer plexiform layer. Multicolor imaging (c) and fundus autofluorescence (d) revealed multiple patchy areas of RPE atrophy and lacquer cracks; fluorescein angiography (e) showed hyperfluorescence due to window effect or late staining, and minimal leakage of the dye corresponding to the RPE lesions. OCT angiography (f) excluded the presence of associated choroidal neovascularization. One month after treatment with systemic prednisone, OCT (g, h) showed resolution of the inflammatory lesions over the RPE humps (arrowheads) and reduction of choroidal thickness.

Case 2

A 59-year-old Caucasian woman was admitted to our department for the development of a new-onset central negative scotoma OD. BCVA was 20/32. Fundus examination revealed the presence of a macular hemorrhage at the border of the peripapillary atrophy over a large choroidal vessel. OCT showed the proximity of the subretinal hemorrhage to a macular RPE hump (Figure 2). Multimodal imaging excluded the presence of CNV (Figure 2), and the patient was diagnosed with hemorrhagic Bruch's membrane (BM) rupture complicating myopic maculopathy. After 2 weeks, the hemorrhage was completely reabsorbed.

Multimodal imaging of retinal pigment epithelium (RPE) humps associated with myopic simple bleeding. Fundus photography illustrated the presence of a macular hemorrhage (arrow) over the course of a large choroidal vessel (arrowhead). The hemorrhage did not show important leakage on fluorescein angiography (b) and corresponded to subretinal hyperreflective material on structural optical coherence tomography (OCT) (c; arrow), whereas the underlying large choroidal vessel corresponded to an RPE hump (c; arrowhead). B-scan (d) and en face (e) OCT angiography excluded the presence of choroidal neovascularization. After 2 weeks, near-infrared fundus reflectance (f) and OCT (g) showed complete resolution of the macular hemorrhage over the RPE hump (arrowhead).

Figure 2.

Multimodal imaging of retinal pigment epithelium (RPE) humps associated with myopic simple bleeding. Fundus photography illustrated the presence of a macular hemorrhage (arrow) over the course of a large choroidal vessel (arrowhead). The hemorrhage did not show important leakage on fluorescein angiography (b) and corresponded to subretinal hyperreflective material on structural optical coherence tomography (OCT) (c; arrow), whereas the underlying large choroidal vessel corresponded to an RPE hump (c; arrowhead). B-scan (d) and en face (e) OCT angiography excluded the presence of choroidal neovascularization. After 2 weeks, near-infrared fundus reflectance (f) and OCT (g) showed complete resolution of the macular hemorrhage over the RPE hump (arrowhead).

Case 3

A 63-year-old man was referred for the sudden onset of a central scotoma OS. BCVA was 20/63 OS. Fundus examination showed myopic maculopathy with patchy atrophy. OCT OS revealed the presence of RPE defects corresponding to a large choroidal vessel indenting the RPE silhouette (Figure 3) with irregular hyperreflective subretinal material. Multimodal imaging confirmed the presence of a pathologic neovascular network (Figure 3). The patient received the diagnosis of active myopic CNV, which was treated with intravitreal injections of anti-vascular endothelial growth factor agents, with a significant clinical improvement.

Multimodal imaging of retinal pigment epithelium (RPE) hump associated with myopic choroidal neovascularization. Multicolor imaging (a) and fundus autofluorescence (b) revealed multiple patchy areas of RPE atrophy and lacquer cracks; structural optical coherence tomography (OCT) (c) illustrated the presence of an epiretinal membrane associated with subretinal hyperreflective material (arrow) over an RPE hump (arrowhead). En face (d) and B-scan (e) OCT angiography confirmed the presence of choroidal neovascularization (CNV; arrow). After 6 months of treatment with intravitreal injections of anti-vascular endothelial growth factor agents, OCT (f) shows a significant reduction of the subretinal hyperreflective material with scarring of the choroidal neovascularization (arrow) over the RPE hump (arrowhead).

Figure 3.

Multimodal imaging of retinal pigment epithelium (RPE) hump associated with myopic choroidal neovascularization. Multicolor imaging (a) and fundus autofluorescence (b) revealed multiple patchy areas of RPE atrophy and lacquer cracks; structural optical coherence tomography (OCT) (c) illustrated the presence of an epiretinal membrane associated with subretinal hyperreflective material (arrow) over an RPE hump (arrowhead). En face (d) and B-scan (e) OCT angiography confirmed the presence of choroidal neovascularization (CNV; arrow). After 6 months of treatment with intravitreal injections of anti-vascular endothelial growth factor agents, OCT (f) shows a significant reduction of the subretinal hyperreflective material with scarring of the choroidal neovascularization (arrow) over the RPE hump (arrowhead).

Discussion

Classic RPE humps have been described as oval-flat or pyramidal-shaped RPE elevations, corresponding to large choroidal vessels. Due to the lack of choroidal stromal tissue in highly elongated myopic eyes, these vessels lift the RPE, determining a hump-like profile on structural OCT scans.2 The choriocapillaris and other large choroidal vessels are usually absent around the RPE humps; however, the RPE is regular and continuous over these lesions, and areas of myopia-induced RPE atrophy or degeneration are generally distant from the hump location. The OCT bands corresponding to the inner retinal layers, albeit distorted, appear normally represented in simple, benign RPE humps. Differently from pigment epithelium detachments, classic RPE humps do not present any pathological material or deposit between the RPE and the BM, whereas contrary to myopic CNV, these lesions do not feature any sign of pathologic blood flow on OCT angiography or dye hyperpermeability on fluorescein angiography (FA).

On the contrary, in this series, we presented a set of complications occurring over RPE humps associated with high myopia. These complications included active multifocal choroiditis inflammatory lesions, BM rupture with subretinal simple bleeding, and myopic CNV, which are all part of the clinical spectrum of high myopia and can be associated with a tomographic profile very similar to the one seen in RPE humps.1–4 Because RPE humps usually do not require any treatment, it is important to distinguish the features of uncomplicated RPE humps from those of complicated lesions, which underlie other potential sight-threatening pathological conditions, claiming timely therapeutic interventions.2 In this setting, multimodal imaging, including OCT, FA, and OCT angiography, plays a relevant role.5–7

Hemorrhagic BM ruptures are often associated with the onset of new lacquer cracks, which are prone to form over perforating scleral vessels.8,9 Large choroidal remnants, indenting the overlying RPE, may contribute to raising the risk of cracks in the stretched Bruch's membrane.

Although the prevalence of myopic CNV in eyes with RPE humps was not significantly different from eyes without humps in the original study, the development of myopic CNV over a hump was still not observed.2 As myopic CNVs are sometimes associated with perforating scleral vessels, we can speculate that these perforating scleral vessels deform the BM, giving an RPE hump appearance as observed in our case.10,11

PM is a predisposing factor of several inflammatory eye diseases that involve the posterior segment of the eye known as inflammatory choriocapillaropathies and including multifocal choroiditis and punctate inner choroidopathy.12 The most useful complementary investigation is indocyanine green angiography, which shows hypofluorescent dots indicating chorioretinal scars or capillary nonperfusion, that correspond to late hyperfluorescent nondiffusing spots on FA. Multifocal choroiditis inflammatory lesions have some peculiar features also on OCT, including sub-RPE material and choroidal hyperreflectivity.12 The development of active inflammatory lesions over RPE humps may hinder the recognition of these precious features. On careful examination of the RPE humps characteristic of our case, we observed the presence of quite peculiar “volcano-like” apertures of the RPE associated with vertical hyperreflective material, which can serve as a useful OCT clue to differentiate uncomplicated RPE humps from active inflammatory lesions in the setting of multifocal choroiditis. Additional imaging modalities, including OCT angiography, allowed to exclude the presence of an underlying secondary CNV.

In these small series, we also observed that complications over RPE humps responded well to traditional therapies used in each scenario. Additional and more powerful studies are needed to assess if these complications may have a different prognosis when occurring over RPE humps.

In conclusion, different complications can occur over myopic RPE humps. Regular follow-up with appropriate examinations can help to recognize these events and offer the most proper treatment timely.

References

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Authors

From the Department of Ophthalmology, IRCCS Ospedale San Raffaele, University Vita-Salute San Raffaele, Milan, Italy.

The Cirrus HD-OCT 5000 and PLEX Elite 9000 have been made available through the Advanced Retina Imaging Network for which Dr. Querques is a steering Committee Member.

Dr. Bandello has received lecture fees, expert board meeting fees, and travel support from Allergan, Bayer, Boehringer-Ingelheim, Novartis, NTC Pharma, Sifi, Fidia Sooft, Hoffmann La Roche, Thrombogenics, and Zeiss outside the submitted work. Dr. Querques has received lecture fees, expert board meeting fees, and travel support from Allergan, Alimera, Amgen, Bayer, KHB, Novartis, Roche, Sandoz, Bausch + Lomb, and Heidelberg outside the submitted work. The remaining authors report no relevant financial disclosures.

Address correspondence to Giuseppe Querques, MD, PhD, Department of Ophthalmology, San Raffaele Scientific Institute, University Vita-Salute San Raffaele, Via Olgettina 60, Milan, Italy 20132; email: giuseppe.querques@hotmail.it.

Received: May 20, 2019
Accepted: September 13, 2019

10.3928/23258160-20200129-09

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