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BJO Online First, published on October 30, 2014 as 10.1136/bjophthalmol-2014-305722
Clinical science
Enhanced depth imaging optical coherence
tomography of congenital cavitary optic disc
anomaly (CODA)
Marion R Munk,1,2 Evica Simjanoski,1 John H Fingert,3 Lee M Jampol1
▸ Additional material is
published online only. To view
please visit the journal online
(http://dx.doi.org/10.1136/
bjophthalmol-2014-305722).
1
Department of Ophthalmology,
Northwestern University,
Feinberg School of Medicine,
Chicago, Illinois, USA
2
Department of Ophthalmology,
Medical University of Vienna,
Vienna, Austria
3
University of Iowa, Iowa City,
Iowa, USA
Correspondence to
Dr Lee M Jampol, Department
of Ophthalmology;
Northwestern University,
Feinberg School of Medicine,
645 N Michigan Avenue, Suite
440, Chicago IL 60611, USA;
l-jampol@northwestern.edu
Received 25 June 2014
Revised 22 September 2014
Accepted 9 October 2014
ABSTRACT
Aim To report the finding of extension of the 4th
hyper-reflective band and retinal tissue into the optic
disc in patients with cavitary optic disc anomalies
(CODAs).
Methods In this observational study, 10 patients (18
eyes) with sporadic or autosomal dominant CODA were
evaluated with enhanced depth imaging optical
coherence tomography (EDI-OCT) and colour fundus
images for the presence of 4th hyper-reflective band
extension into the optic disc.
Results Of 10 CODA patients (18 eyes), five patients
(8 eyes) showed a definite 4th hyper-reflective band
( presumed retinal pigment epithelium (RPE)) extension
into the optic disc. In these five patients (seven eyes),
the inner retinal layers also extended with the 4th hyperreflective band into the optic disc. Best corrected visual
acuity ranged from 20/20 to 20/200. In three patients
(four eyes), retinal splitting/schisis was present and in
two patients (two eyes), the macula was involved. In all
cases, the 4th hyper-reflective band extended far beyond
the termination of the choroid into the optic disc. The
RPE extension was found either temporally or nasally in
areas of optic nerve head excavation, most often
adjacent to peripapillary pigment. Compared with eyes
without RPE extension, eyes with RPE extension were
more myopic (mean dioptres −0.9±2.6 vs −8.8±5,
p=0.043).
Conclusions The RPE usually stops near the optic
nerve border separated by a border tissue. With CODA,
extension of this hyper-reflective band and retinal tissue
into the disc is possible and best evaluable using EDIOCT or analogous image modalities. Whether this is a
finding specific for CODA, linked to specific gene loci or
is also seen in patients with other optic disc
abnormalities needs further evaluation.
INTRODUCTION
To cite: Munk MR,
Simjanoski E, Fingert JH,
et al. Br J Ophthalmol
Published Online First:
[please include Day Month
Year] doi:10.1136/
bjophthalmol-2014-305722
Congenital cavitary optic disc anomalies (CODAs)
is a term used to include various optic nerve
defects ranging from large excavated discs to very
subtle changes. This includes classic colobomas,
optic pits, morning glory syndrome and other malformations.1 2 These malformations can be associated with visual-field defects, peripapillary
pigmentary changes, retinal splitting/schisis and
subretinal fluid (SRF).1 3 4 Classic colobomas result
from a closure defect of the fetal fissure of the
developing optic cup. Based on this pathogenesis,
they are typically found inferotemporal and present
as yellowish/greyish lesions.3 5 Optic pits are focal
depressions in the optic nerve head (ONH).2
Histologically and with spectral domain optical
coherence tomography (SD-OCT), herniation of
dysplastic retina can be found.6–8 They are mostly
located temporal in the ONH but also found centrally.2 Morning glory optic disc anomalies have a
deeply excavated optic disc and cilioretinal vessels
which radiate from the disk’s edge. It is a congenital funnel-shaped excavation of the posterior
fundus that incorporates the optic disc.2 4 9 10
Previous studies using swept-source and enhanced
depth imaging (EDI)-OCT have described the
appearance of optic disc colobomas, optic pits and
morning glory syndromes. Herniation of dysplastic
retina,
abnormal
communication
between
subarachnoidal- and subretinal spaces as well as
detection of lamina cribrosa torn off of peripapillary sclera at the site of the excavation have been
reported.8 10 11 These previous studies did not
note unusual retinal pigment epithelium (RPE) configurations. The aim of this study is to report
EDI-OCT finding of the 4th hyper-reflective band
and retina extending into the optic disc in patients
with sporadic and hereditary CODA.
METHODS
Patient selection and setting
This study enrolled 10 patients (18 eyes) diagnosed
with hereditary or sporadic CODA. They were
evaluated based on their characteristic ophthalmoscopic ONH appearance that may include absent or
poorly defined central retinal arteries, an ONH
with roundish, yellow/greyish depression with steep
walls and varying degrees of peripapillary pigment.
The disc may be grossly excavated with absence of
rim tissue and marked saucerisation associated with
abnormal peripapillary pigment.3 ONHs of each
enrolled eye are shown in figure 1A. These 10
patients (18 eyes) were assessed for the presence of
definite extension of the 4th hyper-reflective band
into the disc on EDI-OCT (figure 1B).
Characteristics of eyes with RPE extension were
described and a potential difference between eyes
with and without RPE extension with respect to
refraction and the presence of schisis was evaluated.
This study adhered to the Declaration of Helsinki,
was IRB approved and all patients gave written
informed consent.
Study variable and scan protocol
Medical history was obtained and examination consisted of best corrected visual acuity (BCVA),
intraocular pressure (IOP)-measurement, slit-lamp
examination and dilated fundus exam. Colour
fundus photographs (Topcon, USA) of the macula
and the ONH were taken plus serial horizontal
Munk MR, et al. Br J Ophthalmol 2014;0:1–7. doi:10.1136/bjophthalmol-2014-305722
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1
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Clinical science
Figure 1 (A) Exhibits the 10 patients (18 eyes) examined and diagnosed with cavitary optic disc anomalies. R=right eye, L=left eye. (B) Exhibits
corresponding enhanced depth imaging optical coherence tomography scans of the optic nerve heads: Patient Nr. 1, 3, 6, 8 and 10 reveal no 4th
hyper-reflective band extension. Patient Nr. 2, 4 and 5 show 4th hyper-reflective band extension in both eyes and Nr. 7 and 9 in the left eye.
cross-sectional SD-OCT and EDI-OCTs of the macula and
ONH (HRA+OCT Spectralis; Heidelberg Engineering,
Germany). Validity and reliability of EDI-OCT to assess optic
disc anomalies have been previously shown.11 The scan protocol
included a horizontal 20×20 25-line macular SD-OCT (scan
distance 244 mm) and a horizontal 31-line EDI-OCT 30×25
raster scan (scan distance 244 mm) centred foveally, ranging
from the macula to the nasal edge of the optic disc, a horizontal
25-line EDI-OCT 30×25 raster scan centred over the optic disc
(scan distance 244 mm) and a horizontal 73-line EDI-OCT
15×15 raster scan (scan distance 60 mm) centred over the
ONH. Each scan had 10 OCT frames (average real time (ART)
mode) averaged. Image quality was assessed immediately after
image acquisition. If the image was of insufficient quality to
evaluate morphology especially with respect to the hyperreflective bands and the optic disc margin, the image acquisitions were repeated. In order to overcome bad image quality
due to media opacities, the number of ART frames was
2
increased. Poor compliance was addressed by decreasing the
number of scans in the raster scans. The central macular
SD-OCT scans were carefully evaluated for retinal splitting/
schisis and SRF. The ONH EDI-OCTs were evaluated for
subtle and discrete retinal splitting/schisis near the optic disc
and for the course of the RPE. In cases of RPE extension, the
appearance of the RPE at the border of the ONH was evaluated in relation to border tissue, retinal layers and the
choroid.12 13 As Bruch’s membrane was not differentiable
from the RPE, we suspect that Bruch’s membrane corresponds
to the visible RPE course. The scans were individually assessed
by two of the coauthors (LMJ and MRM). Discrepancies were
resolved by a consensus reading. In order to assess the reliability of this finding, an intraobserver agreement analysis was
performed. Therefore, two datasets of identical single
EDI-OCT cross-sections scans of the 10 CODA patients were
graded for the presence/absence of RPE extension by an initially uninvolved clinician (KE).
Munk MR, et al. Br J Ophthalmol 2014;0:1–7. doi:10.1136/bjophthalmol-2014-305722
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Clinical science
Figure 1 Continued
In order to evaluate the location of the RPE extension and
corresponding peripapillary changes in respective eyes, the infra
red (IR) image of the EDI-OCT cross-section B-scan with the
deepest RPE extension was superimposed on a colour picture of
the ONH using imaging software (Gimp, http://www.gimp.org;
eg, see figure 2A). Therefore, the respective singular EDI-OCT
scan with the corresponding IR image was extracted for each
eye (in TIFF) from Heidelberg Eye Explorer (V.5.7.4.0). Then,
the IR image displaying the region and level of the single
EDI-OCT cross-section scan by a green line (figure 2A) was cut
out and the IR image was overlaid on the colour fundus image
by using vessels for alignment and matching vessel landmarks
manually.
RESULTS
Of the 10 patients (18 eyes), five patients (eight eyes, mean age
45±14 years) presented with definite extension of the 4th hyperreflective band into the disc visible on EDI-OCT (figure 1B).
Thus, five patients (10 eyes) did not show RPE extension.
Demographic and baseline characteristics of all enrolled CODA
patients are given in table 1. OCTs of all ONH are shown in
figure 1B.
In the following, findings of the five patients (eight eyes) with
RPE extension are summarised; in these patients, BCVA ranged
from 20/20 to 20/200. Three patients (six eyes) had autosomal
dominant (AD) CODA and belonged to the family previously
reported.2 3 The four patients (seven eyes) with visual field
assessment showed defects. Three patients (four eyes) had
retinal splitting/schisis and two (two eyes) presented additionally
with foveal SRF. In all cases, RPE (and possibly Bruch’s
Munk MR, et al. Br J Ophthalmol 2014;0:1–7. doi:10.1136/bjophthalmol-2014-305722
membrane) extended far beyond the termination of the choroid
into the optic disc. In four eyes, the RPE extension was most
prominent nasally, in four temporally (figure 1B). The RPE
extension was most often adjacent to highly pigmented areas
along the disc margin (eg, see figure 2A). In five patients (seven
eyes), apparent inner retinal tissue also extended together with
the presumed RPE into the ONH (figure 1B, Nr. 2, 4, 5 and 9).
One patient (one eye) showed a membrane traversing the cup
and another eye revealed a hyper-reflective strand, presumable
rudimentary retinal tissue which traversed the cup (figure 1B,
Nr. 2).
The intraobserver agreement for presence/absence of RPE
extension was 92%. There was no association between schisis
and the presence of RPE extension (Fisher’s exact test:
p=0.145). Frequency distribution of RPE extension and schisis
can be found in online supplementary table S1. Eyes with RPE
extension were more myopic than eyes without RPE extension
(mean dioptres −8.8±5 vs −0.9±2.6; Mann–Whitney U test
p=0.043).
EXEMPLARY CASES
Case 1: Pt. Nr. 5
This highly myopic (SE −9 both eyes (OU)) 42-year-old
Caucasian woman belongs to a family with AD CODA.2 3 14
This family was found to carry a gene mutation on chromosome
12 responsible for this abnormality.2 3 BCVA was 20/100 right
eye (OD); 20/200-1 left eye (OS). Her vision OS has been poor
since childhood. She had been noted to have retinal splitting/
schisis with intraretinal cavities in the macula and serous retinal
detachment OD in the past and had received barrier laser
3
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Clinical science
Figure 2 (A) Case 2: Cavitary optic disc anomaly of the left eye. Top left: Infrared of the enhanced depth imaging optical coherence tomography
(EDI-OCT) line scan with the deepest retinal pigment epithelium (RPE) extension is superimposed on colour fundus image by manually matching
retinal vessel landmarks. Based on the green line which displays the level and region of the selected EDI-OCT scans, the corresponding peripapillary
changes can be evaluated. Colour photograph shows an anomalous large and deep cup. There is a temporal optic disc anomaly with peripapillary
pigmentary changes and a cilioretinal artery. The image-overlay reveals that the RPE extension into the disc is found adjacent to a peripapillary
pigmented area. Top right: Infrared: Note the anomaly and the localised circumscribed hyporeflectivity extending from the optic nerve head to the
fovea corresponding to retinal thinning. Bottom right: Red-free: Note the peripapillary pigmentary changes and the cilioretinal artery. Bottom left:
The fluorescein angiography shows early localised disc hypofluorescence.
treatment OD 27 years ago. She had a large arch-shaped
scotoma in the superior visual field OU.
At presentation, IOP was 12/11 mm Hg OD/OS.
Ophthalmoscopy showed deep cavitary defects of the optic
nerve OU (figure 1A, Nr. 5). The central retinal arteries were
missing and both eyes showed anomalous radial cilioretinal
vessels. Pigment mottling along the temporal margin of the
nerve was seen OD and along the inferotemporal vessels bone
spicule pigment was found. OS showed temporal ONH crescent. EDI-OCT highlighted bilateral very deep cups. Nasally,
both eyes revealed abnormal extension of the 4th hyperreflective band and the inner retinal layers into the nerve.
Adjacent prominent peripapillary pigment was present. Border
tissue, photoreceptors, outer retinal layers and choroid ceased
before the RPE extension in both eyes (figure 1B, Nr. 5).
Case 2: Pt. Nr. 9
A 37-year-old healthy man noticed a paracentral scotoma in the
left lower quadrant of his visual field when covering his right
eye. At presentation, BCVA was OD 20/15-1; OS 20/20+2 and
IOP 13/13 mm Hg. OD showed a large, deep cup and peripapillary atrophy. OS presented with a similar abnormal large and
deep cup. An inferotemporal CODA, peripapillary pigmentary
4
changes, localised temporal peripapillary retinal thinning and a
cilioretinal artery were present (figure 2A). SD-OCT confirmed
a deep cup and retinal thinning in the outer nasal Early
Treatment Diabetic Retinopathy Study (ETDRS)-subgrid corresponding to an inferotemporal scotoma (figure 2B). Horizontal
SD-OCT scans showed retinal nerve fibre layer thinning nasal to
the fovea (figure 2B). Most strikingly, at the temporal side of
the ONH adjacent to peripapillary hyperpigmentation near the
cilioretinal artery, the RPE and the inner retinal layers extended
into the disc beyond the termination of the choroid (figure 2B).
The family history was negative for optic disc anomalies.
Case 3: Pt. Nr. 2
This 33-year-old woman from the CODA family with the
genetic aberration in the chromosome 12q locus2 3 had a
history of retinal detachment OU and vitrectomy OU. Over the
years, her visual fields revealed increasing scotomata and she
was placed on timolol maleate, latanoprost and brimonidine.
At presentation, IOP was 14/9 mm Hg; BCVA was stable at 20/
200 OU. Indirect ophthalmoscopy revealed multiple peripheral
retinal laser scars OS. The ONH showed deep cavitary defects
OU (figure 1A, Nr. 2). The left ONH had a temporal crescent.
Bilateral macular pigmentary changes were visible. Nasal to the
Munk MR, et al. Br J Ophthalmol 2014;0:1–7. doi:10.1136/bjophthalmol-2014-305722
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Clinical science
Figure 2 (B) I: Early Treatment Diabetic Retinopathy Study (ETDRS) thickness map and a representative spectral domain optical coherence
tomography (SD-OCT) B-scan, showing loss of retinal nerve fibre layer (RNFL) with thinning in the area corresponding to the visual field defect and
the cavitary optic disc anomaly. II: Central SD-OCT B-scan shows RNFL loss and RPE and the inner retinal layers extending into the disc. The
photoreceptors and the outer retinal layers end earlier than the Bruch’s membrane and the RPE. III+IV: The SD-OCT B-scans of the optic nerve head
clearly shows a deep cup with the temporal RPE, border tissue and inner retina extending into the disc (white arrow). The photoreceptors seem to
end earlier at the border tissue. There is also a membrane traversing the cup (red arrow).
fovea schisis like changes not involving the fovea were visible
OU in SD-OCT. EDI-OCT showed extension of presumable
RPE into the disc OU, nasally OD and temporally OS (figure
1B, Nr. 2). The RPE extension was found in the area of deep
excavation and peripapillary pigment. A strand assumed to be
rudimentary retinal tissue traversed the right excavated cup. In
the left eye, the presumable RPE and inner retinal layers
extended beyond the end of the choroid. The border tissue
configuration was internally oblique with a clear RPE
overhang.
Munk MR, et al. Br J Ophthalmol 2014;0:1–7. doi:10.1136/bjophthalmol-2014-305722
DISCUSSION
This is the first clinical report of an optic disc anomaly with
extension of the hyper-reflective band into the optic disc
cavity.12 15 The respective eyes presented with 4th hyperreflective band extension far beyond the termination of the
choroid. In all these eyes but one, the inner retinal layers also
extended into the optic disc. The extension was usually adjacent
to pigmented peripapillary areas.
In normal eyes, the retinal layers as well as RPE and choroid
end near the borders of the optic nerve are separated by a
5
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Clinical science
Table 1
Demographic characteristics of cavitary optic disc anomaly patients
Pt. Nr
Age
Sex
Inheritance
BCVA
RPE in cup
Schisis
VF defect
Nr. 1
64
m
Sporadic
No
OU
OU
Nr. 2
33
f
AD
OU
OU
OU
Nr. 3
70
m
AD
No
OU
OU
Nr. 4
45
f
AD
OU
OS
OU
Nr. 5
42
f
AD
OU
No
OU
Nr. 6
59
m
Sporadic
No
OS
OU
Nr. 7
69
f
Sporadic
OS
OD
No VF available
Nr. 8
73
m
AD
No
OU
OU
Nr. 9
38
m
Sporadic
OS
No
OS
Nr. 10
20
m
Sporadic
OD 20/20
OS 20/15
OD 20/200
OS 20/200
OD 20/20
OS 20/15
OD 20/40
OS 20/25
OD 20/100
OS 20/200
OD 20/20
OS 20/40
OD 20/50
OS 20/25
OD 20/70
OS CF
OD 20/15
OS 20/20
OD 20/25
OS 20/20
No
No
No VF available
Patients with retinal pigment epithelium (RPE) extending into the cup are shown in bold letters.
Pt. Nr. resembles consecutive patient number visible in figure 1.
AD, autosomal dominant; BCVA, best corrected visual acuity; CF, counting fingers; f, female; m, male; VF, visual field.
border tissue from the ONH.12 15 The cessation of the retina is
usually oblique with the inner layers ending before the outer
layers. Photoreceptors become smaller and terminate before the
RPE at the border tissue of Kuhnt and the choriocapillaries ends
at variable distance at the border tissue of Elschnig.12 15 The
RPE continues almost as far as Bruch’s membrane and terminates at the outer border of the ONH on the inner border of
the choroid. Bruch’s membrane itself is the outermost retinal
structure and defines the optic nerve canal opening.15 In our
patients, we could not determine if Bruch’s membrane accompanied the RPE extension into the disc, but as the Bruch’s membrane is the basement membrane of the RPE, it is very likely
that the Bruch’s membrane, too, extended into the ONH. The
definition of the nerve canal opening is the end of Bruch’s membrane in normal eyes. The finding of this unusual extension of
RPE (and possibly Bruch’s membrane) is anomalous.13 15–17
The anatomy of the optic disc margin in CODA patients is not
comparable with normal eyes as CODA affects the integrity of
the disc margin.8 18
A short Bruch’s membrane (and RPE) overhang with respect
to the border tissue termination is common in healthy and glaucomatous eyes and in eyes with ONH drusen.11 13 However, in
these eyes, the overhang is very short and does not extend into
the disc.
Congenital CODAs are rare with an incidence of 1/11 000.18
They can be sporadic or inherited.18 In our cases, RPE extension was found in sporadic as well as in AD CODA cases.
Although this is the first study reporting in vivo images of the
extension of the 4th hyper-reflective band into the disc, previous reports on morning glory syndrome and ONH colobomas
using swept-source OCT demonstrated clear extension of the
respective band in these presented figures. However, no
comment on this alteration can be found in any of these
reports.19 20 Previous histopathology case reports have
described unusual forms of optic disc coloboma that included
abnormal extension of sclera, choroid, retinal tissue and hyperplastic RPE with prolapse into the optic disc.6 21 In hypoplastic
6
optic discs, abnormal extension of retina and RPE over the
outer portion of the lamina cribrosa can be found.4 Other histological studies have reported RPE cells in an optic pit and a
coloboma with a membrane consisting of rudimentary retinal
tissue and RPE, which traversed the cavity.22 23 Five patients
(seven eyes) presented with additional inner retinal extension,
one also had a membrane traversing the cavity and one showed
a traversing hyper-reflective strand in OCT which we presume is
rudimentary retinal tissue (figure 1B, Nr. 2). Embryologically,
the ectoderm folds into itself, creating a double-layer of neural
ectoderm which ultimately differentiates into the neurosensory
retina and the RPE. Extension and prolapse of retinal tissue into
the cavity may represent faulty development at this embryological phase. However, the main event leading to this respective
morphological alteration may be also found during scleral canal
formation, developing long before the axons of the ganglion
cells of the neurosensory retina form the optic disc.
A previous study found disruption of intermediary tissue of
Kuhnt in a patient with coloboma.4 24 RPE (and possibly
Bruch’s membrane) extension may be therefore caused by disruption or absence of border tissue, impeding normal development and normal cessation of the RPE and Bruch’s membrane.
Yet, based on our EDI-OCT findings, we can only speculate that
the extension of the 4th hyper-reflective band is actual RPE; it
could also be dysplastic outer retinoblasts or proliferative gliosis.
Further histological or electron-microscopic evaluation or image
modalities like polarisation sensitive-OCT are warranted to
further address this issue. Also, further studies are warranted to
determine whether this finding is seen specifically with certain
genetic changes, like the recently detected candidate genes in
chromosome 12q2 or PAX6 and PAX2 genes,25 26 or whether it
may be also found in patients with other congenital and even
acquired disc abnormalities. Myopia as a potential contributing
factor needs also further evaluation.
Limitation of this study includes the relatively small patient
population, its qualitative design and the fact that no star scan
or vertical raster scans were included.
Munk MR, et al. Br J Ophthalmol 2014;0:1–7. doi:10.1136/bjophthalmol-2014-305722
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Clinical science
Acknowledgements The authors want to thank Ronil Shah for his help to overlay
the images and Dr Katharina Eibenberger for grading the images of the
intraobserver agreement study. The authors have obtained written permission from
the person named in the acknowledgement.
Contributors Study concept and design: MRM, LMJ; Acquisition of data: ES,
MRM, LMJ, JHF; Analysis and interpretation of the data: MRM, LMJ; Drafting the
manuscript: MRM; Critical revision of the manuscript: LMJ, JHF; Obtaining funding:
LMJ; Administrative, technical, material support: ES; Study supervision: LMJ.
Funding This work was supported in part by an unrestricted grant from the Macula
Foundation, New York City and by Research to Prevent Blindness, New York.
Competing interests None.
Patient consent Obtained.
Ethics approval Northwestern University IRB.
Provenance and peer review Not commissioned; externally peer reviewed.
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Enhanced depth imaging optical coherence
tomography of congenital cavitary optic disc
anomaly (CODA)
Marion R Munk, Evica Simjanoski, John H Fingert and Lee M Jampol
Br J Ophthalmol published online October 30, 2014
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