RETINOCHOROIDAL COLOBOMA ASSOCIATED WITH

MORAN MINUTE
RETINOCHOROIDAL
COLOBOMA ASSOCIATED
WITH CHOROIDAL
NEOVASCULAR MEMBRANE
This rare but aggressive cause of vision loss can be successfully managed.
BY SAILAJA BONDALAPATI, BE; SUBHADRA JALALI, MS; AND JAY CHHABLANI, MS
For this month’s Moran Minute, we present
an unusual posterior segment lesion which
started off as a mystery but through methodical detective work, was solved.
—Bala Ambati, MD, PhD, MBA, section editor
A 32-year-old man with a history of amblyopia and esotropia in the left eye (OS) since childhood presented with the
chief complaint of flashes of light with blurry vision at distance and near for 1 week in the right eye (OD). On examination, BCVA was 20/125 OD and count fingers at 1 m OS. The
intraocular pressure in each eye was within normal limits.
Anterior segment examination was unremarkable in
each eye. Fundus exam showed white, well-circumscribed
lesions in the inferior fundus involving the optic nerve
head and bisecting the macula in each eye with subretinal
heme OD (Figure 1). Fluorescein angiogram (FA) showed
hyperfluorescence at the margin of the lesions in both the
early and late phase. The subretinal heme appeared on
optical coherence tomography (OCT) as a slight elevation
of the neurosensory retina OD (Figure 1).
DIFFERENTIAL DIAGNOSIS
Given the patient’s ocular history, current symptoms,
and classic clinical signs of neovascularization, the differential diagnosis included retinochoroidal coloboma with
choroidal neovascular membrane (CNVM), morning glory
syndrome (Figure 2A), ocular histoplasmosis (Figure 2B),
peripapillary staphyloma (Figure 2C), toxoplasmosis retinochoroiditis (Figure 2D), leukemic optic disc infiltration
74 ADVANCED OCULAR CARE | MAY/JUNE 2015
(Figure 2E), and glaucomatous cupping (Figure 2F).
Morning glory syndrome was ruled out, as this condition is usually associated with encephalocele and other
neurologic issues with midline cranial defects in patients.
Similarly, absence of multiple choroidal spots (“histo
(Continued on page 70)
A
C
B
D
Figure 1. At baseline, color fundus photograph (A) shows a
retinochoroidal coloboma with presence of subretinal heme
(arrow), which is seen as slight elevation of neurosensory
retina (arrowhead) on spectral-domain OCT (B). Fundus
fluorescein angiography shows an increase in hyperfluorescence at the margin of the coloboma in the early phase (C)
and an increase in the late phase (D).
MORAN MINUTE
(Continued from page 74)
spots”) and peripapillary pigmented degeneration differentiated the presenting condition from histoplasmosis.
Imaging did not reveal the diagnostic criteria for peripapillary staphyloma, as the lesion is an anomaly surrounding
the optic disc rather than the disc itself. Absence of focal
necrotizing retinochoroiditis and inflammation of vitreous, retinal blood vessels, and anterior segment ruled
out ocular toxoplasmosis. Intraocular leukemia is usually
A
B
C
D
E
F
Figure 2. Color fundus photographs of differential diagnoses considered morning glory syndrome (A), ocular histoplasmosis (B),
peripapillary staphyloma (C), toxoplasmosis retinochoroiditis (D), leukemic optic disc infiltration (E), and glaucomatous cupping (F).
A
B
Figure 3. At 8-month follow-up, after three intravitreal bevacizumab injections, color photograph (A) shows resolution of
subretinal heme (arrow) with no thickening of the retina (arrowhead) on spectral-domain OCT (B).
70 ADVANCED OCULAR CARE | MAY/JUNE 2015
TREATMENT COURSE
With other diagnoses unlikely, our working diagnosis was
coloboma. The patient underwent injection of intravitreal
bevacizumab (Avastin; Genentech [1.25 mg in 0.05 mL]) as
per the standard protocol.
At 6-week follow up, BCVA OD improved to 20/100,
but persistent subretinal fluid was seen on OCT. Therefore,
the patient underwent a second round of bevacizumab
(1.25 mg in 0.05 mL) injection.
At 12-week follow-up, BCVA was 20/125 OD, and OCT
showed decreased activity of CNVM with outer retinal damage. The patient underwent a third injection of bevacizumab
(1.25 mg in 0.05 mL).
At 18-week follow-up, BCVA was stable at 20/125 OD
with scarred CNVM on examination. The scarring of CNVM
was confirmed on OCT. The patient was advised to come
for regular follow-up and to perform home monitoring with
an Amsler grid. At 8-month follow-up, his vision OD had
improved to 20/60 with no recurrence of CNVM as per clinical imaging (Figure 3).
MORAN MINUTE
secondary to systemic malignancy. Given the clean hematologic workup in this patient, leukemic optic disc infiltration was ruled out. Normal intraocular pressure and an
unremarkable anterior chamber suggested little reason to
suspect glaucomatous cupping.
TABLE. REPORTS OF CNVM ASSOCIATED WITH RETINOCHOROIDAL COLOBOMA IN THE LITERATURE
Case
No.
Sex
Age
(yrs)
Eye
ONH/Macula Duration of BCVA
involvement symptoms preop
(wk)
Mode of
treatment
for CNVM
BCVA at
the last
follow-up
Duration
of followup (mo)
Recurrence
during
follow-up
1*
M
32
OD
ONH involved 1
with bisecting
macula
20/125
3 IVB injections
20/60
8
No
211
F
56
OD
Not involved
20/63
PDT
20/32
39
No
311
F
21
OS
ONH involved Not mentioned
20/120
PDT+1 IVB
injection
20/80
11
No
411
M
35
OS
Not involved
20/32
PDT+1 IVB
injection
20/20
5
No
51
F
5
OD
ONH involved 2
20/400
2 IVB injections
20/40
28
No
61
F
8
OS
ONH involved Not mentioned
20/60
2 IVB injections
20/40
24
No
79
M
1.7
OD
ONH involved On regular
exam
n/a
PDT+2 IVR
injections
n/a
12
No
810
F
5.6
OD
ONH involved On regular
with bisecting exam
macula
20/50
PDT
20/20
66
No
97
F
39
OS
Not involved
20/200
2 PDT+ 4
IVB injections
20/60
13
No
1012
M
36
OD
ONH involved 4
with bisecting
macula
20/125
2 IVB injections
20/30
12
No
Not mentioned
2
Not mentioned
M, male; F, female; OD, right eye; OS, left eye; ONH, optic nerve head; IVB, intravitreal bevacizumab; PDT, photodynamic therapy; IVR,
intravitreal ranibizumab; n/a, not applicable.
* The current case report
MAY/JUNE 2015 | ADVANCED OCULAR CARE 71
MORAN MINUTE
“
Ocular coloboma is a
congenital abnormality caused
by defective closure of the
embryonic fissure.
DISCUSSION
Coloboma originates from the Greek koloboma, which
means curtailed. Ocular coloboma is a congenital abnormality caused by defective closure of the embryonic fissure. It can involve one or more ocular structures including the cornea, iris, ciliary body, lens, retina, choroid, and
optic disc. Visual prognosis varies according to the severity and site of the ocular malformation.
Coloboma is an important cause of visual impairment
and blindness around the world. Multiple complications
of uveal coloboma have been reported in the literature,
including retinal detachment, cataracts, microphthalmia,
and CNVM.1-5
CNVM associated with coloboma is a rare, aggressive,
but treatable cause of vision loss. The literature on the
incidence of CNVM associated with coloboma is scant, as
most published articles are case reports.
The abnormal closure of the embryonic fissure in retinochoroidal coloboma leads to the absence of choriocapillaries and the formation of a defective Bruch membrane
and retinal pigment epithelium. The disruption of normal
anatomy of the Bruch membrane has been postulated to
be an entry site for the growth of abnormal blood vessels,
but the stimulus for this growth is unknown.6-8 Gupta
et al postulated that choriocapillaries permeate into the
subretinal space through defects in the anomalous retinal
tissue within the coloboma, resulting in the development
of subretinal neovascularization.6
Studies have reported a variety of treatment modalities for CNVM associated with coloboma in different age
groups. Management options for coloboma related to
CNVM include photocoagulation therapy,9 photodynamic therapy (PDT) alone,10,11 and injection of anti-VEGF
agents as monotherapy1 and in combination.9
CNVM is a well-documented complication of retinochoroidal coloboma in adults and children.1,9-12 Nine
cases have been reported in the literature (Table), with
the youngest patient being 19 months old.9 In all nine
cases and the current case, visual outcome was improved,
and CNVM was resolved without any recurrence up to
the last reported follow-up visit.
72 ADVANCED OCULAR CARE | MAY/JUNE 2015
The present case and review of literature report promising outcomes with different treatment modalities for
CNVM in colobomatous eyes. This report highlights the
importance of recognizing the presence of CNVM and
subretinal fluid despite congenital abnormalities in these
patients. Due to the aggressive nature of CNVM, careful
evaluation and follow-up is crucial in order to preserve
residual monocular vision in these patients. n
1. Naithani P, Vashisht N, Mandal S, Sankaran P, Garg S. Intravitreal bevacizumab in choroidal neovascularization
associated with congenital choroidal and optic nerve coloboma in children: Long-term improvement in visual acuity. J
AAPOS. 2010;14(3):288-290.
2. Unlu N, Kocaoglan H, Acar MA, Aslan BS, Duman S. Surgical management of retinal detachment with choroidal
coloboma. Eur J Ophthalmol. 2002;12(4):299-303.
3. Gopal L, Badrinath SS, Sharma T, Parikh SN, Biswas J. Pattern of retinal breaks and retinal detachments in eyes with
choroidal coloboma. Ophthalmology. 1995;102(8):1212-1217.
4. Spitzer M, Grisanti S, Bartz-Schmidt KU, Gelisken F. Choroidal neovascularization in retinochoroidal coloboma:
Thermal laser treatment achieves long-term stabilization of visual acuity. Eye (Lond). 2008;(8):969-972.
5. Takenaka J, Yamane K, Minamoto A, Mishima HK, Hayashida H. Subretinal neovascularization associated with
retinochoroidal coloboma. Eur J Ophthalmol. 2005;15(6):815-817.
6. Gupta V, Gupta A, Dogra MR. Subretinal neovascularization associated with retinochoroidal coloboma. Indian J
Ophthalmol. 1997;45(2):116-117.
7. Lee SH, Ahn JK, Yu HG. The development of recurrent choroidal neovascularization in a patient with choroidal
coloboma. Korean J Ophthalmol. 2011;25(1):63-65.
8. Rouland JF, Constantinides G. Retinochoroidal coloboma and subretinal neovascularization. Ann Ophthalmol.
1991;23(2):61-62.
9. Goodwin P, Shields CL, Ramasubramanian A, Brown GC, Shields JA. Ranibizumab for coloboma-related choroidal
neovascular membrane in a child. J AAPOS. 2009;13(6):616-617.
10. von Eicken J, Hoh H, Rehfeldt K. Photodynamic therapy for choroidal neovascularisation due to choroidal coloboma
in a 5 1/2-year-old child. Klin Monbl Augenheilkd. 2007;224(2):140-145.
11. Bhende M, Suganeswari G, Gopal L, Bhende PS, Gopal L, Rao C. Choroidal neovascularization associated with
coloboma of the choroid: A series of three cases. Indian J Ophthalmol. 2011;59(2):148-151.
12. Rajendran A, Gupta SR, Brahadeesh S, Ramasamy K. Intravitreal bevacizumab for choroidal neovascularization
associated with a retinochoroidal coloboma. Eye (Lond). 2010;24(5):933-934.
Section Editor Bala Ambati, MD, PhD, MBA
Professor of ophthalmology, John A. Moran Eye Center,
University of Utah, Salt Lake City
n Director of cornea research, John A. Moran Eye Center, University
of Utah, Salt Lake City
n [email protected]
n
Sailaja Bondalapati, BE
Medical Student Research Fellow, John A. Moran Eye Center,
University of Utah, Salt Lake City
n [email protected]
n
Subhadra Jalali, MS
Consultant, Smt. Kannuri Santhamma Center for Vitreo Retinal
Diseases, L.V. Prasad Eye Institute, Hyderabad, India
n [email protected]
n
Jay Chhablani, MS
Consultant, Smt. Kannuri Santhamma Center for Vitreo Retinal
Diseases, L.V. Prasad Eye Institute, Hyderabad, India
n [email protected]
n