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DECREASED VISION WITH FUNNY LOOKING NERVES
Residents Day Abstract
Doan Trang Huynh, OD
Primary Care Resident at the Pennsylvania College of Optometry at Salus University
Abstract
Optic disc (OD) pit and OD coloboma are rare congenital anomalies that may present
with retinal sequelae. This case demonstrates an OD pit and coloboma and its
management.
I. Case History
73 yo AAM (07/16/12)
CC: blur OS only
HPI: x 3-4 years
Distance & near
Objects appear distorted
No improvement
POHx: (+) childhood ocular trauma OS
PMHx:
(+) Hypertension
(+) Hypercholesterolemia
(+) Prostate Cancer (1991)
Systemic Medications: Zolpidem, Doxazosin, Simvastatin, Amlodipine
FMHx: (+) Hypertension
(+) Kidney Disease
II. Pertinent findings
VA (cc)
Distance
20/20-2
20/125-1
20/20-2
Cover Test (cc)
PH
20/100
Distance
3∆ XP
Near
20/20
20/200
20/20
Near
3∆ XP
PERRL (+) OS APD
CF: superior nasal defect OD, OS
EOMS: Full Range of Motion
Color Vision:
OD
OS
7/7
2/7
Spectacle Prescription
+0.50-1.50x100
20/20-2
-0.75-0.50x090
20/10020/25+
SLE:
Lids/lashes: dermatochalasis OD, OS
Conjunctiva: melanosis OD, OS
Cornea: arcus 360º
Angle: 3+ T/N OD, OS
Anterior chamber: deep & quiet OD, OS
Iris: cl, brown OD, OS
Lens: 1+ nuclear sclerosis OD, OS
BP: 141/62 mmHg RAS
IOP (GAT) 18 mmHg
18 mmHg
Ophthalmoscopy:
OD
0.85/0.85
C/D
(+)inferior coloboma
2/3
A/V
Cl, flat
Macula
cl
Vitreous
cl, flat&intact Periphery
OS
0.70/0.70
2/3
pigmentary changes
PVD
cl, flat&intact
First visit at TEI on 12/08
CC: blur OS only
HPI: x1 mo
Objects appear distorted
5/10 severity
All distances
VA (sc)
Distance
20/40-2
20/400
20/50+2
PH
NI
NI
Near
0.4/0.6
0.4/2.0
0.4/0.5
Entrance tests: WNL
Color Vision:
OD
OS
13/14
10/14
Amsler Grid:
OD
WNL
OS
(+)metamorphopsia, (-)scotoma
SLE: unremarkable
IOP (GAT) 18 mmHg
18 mmHg
Ophthalmoscopy
OD
OS
0.65/0.70
C/D
(+)inferior coloboma
2/3
A/V
cl, flat
Macula
cl
Vitreous
cl, flat&intact Periphery
0.45/0.45
2/3
pigmentary changes, (+)fluid
cl
cl, flat&intact
Additional Testing:
Stratus OCT (12/08): macula OS: intraretinal fluid with a “schisis” appearance and
subretinal fluid; macula OD: normal
Fundus Photos
III. Differential Diagnosis
Age-Related Macular Degeneration
Choroidal tumors
Choroidal neovascularization
Congenital optic disc anomalies
Harada disease
Unilateral acute idiopathic maculopathy
IV. Diagnosis and Discussion
This patient is diagnosed with serous macular detachment secondary to an optic disc pit
OS. Optic disc pit (ODP) is a rare congenital anomaly that is typically seen in 1 of
11,000 people. Commonly, it is a unilateral presentation with 15% of affected
individuals having a bilateral presentation1. On fundus examination, the ODP appears as
a localized grey (60%), white/yellow (30%), or black (10%) round or oval depression in
the optic disc1. Commonly, the ODP is located inferotemporally. When located
temporally, ODPs may lead to a macular edema, schisis like macular detachment,
changes in macular pigment or atrophy of the pigment epithelium along the temporal disc
edge1. Generally, ODPs are asymptomatic and visual deterioration is related to the
possible macular involvement. The pathogenesis of the maculopathy is unclear with
speculation of either vitreous or cerebrospinal fluid from the subarachnoid space
involvement.
ODPs may be associated with other optic nerve abnormalities such as an optic nerve
coloboma. This patient presents to the clinic with a congenital optic nerve coloboma OD
and an optic disc pit OS. However, the optic disc pit was diagnosed years after the initial
presentation of the serous detachment. The pit is atypical in presentation; without the
classic localized grey depression. Initially, it was diagnosed as an optic nerve coloboma.
V. Treatment and Management
The treatment option of ODP maculopathy remains controversial and includes
observation, argon laser photocoagulation, pars plana vitrectomy and gas injection2.
There is no gold standard for treatment, partially because of the rarity of the clinical
condition and the challenges of the retinal detachment1. However, a surgical approach is
the widely accepted treatment, rather than clinical observation. Recently, Hirakata et al.
found vitrectomy with induction of a PVD without a gas tamponade or laser
photocoagulation to be an effective treatment option3.
Our patient was treated with two sessions of barrier laser to stop the communication of
fluid from the optic disc pit to the area of detachment. The patient’s serous detachment
slowly resolved over two years and vision has improved from 20/400 to 20/100.
Currently, the patient is being monitored.
Management of ODP includes monitoring, visual fields and optical coherence
tomography. Visual fields may be variable but the most common defects include a
paracentral arcuate scotoma and an enlarged blind spot2.
VI. Conclusion
When seeing a funny looking optic nerve, consider congenital optic nerve anomalies.
Optic nerve pits may be associated with other abnormalities such as coloboma or an
enlarged nerve. They may present with different appearances, some more subtle than
others. It is important to educate the patient with the signs and symptoms of a serous
detachment. When treating the detachment, aggressive surgical management should be
considered. Additionally, a visual field should be performed on patients with optic nerve
anomalies, even if there is no associated maculopathy.
References
1.
2.
3.
Georgalas I, Ladas I, Georgopoulos G, Petrou P. Optic disc pit: a review. Graefes
Arch Clin Exp Ophthalmol 2011; 249: 1113-1122.
Kanski JJ. Clinical Opthalmology: A Systemic Approach. 6th. Philadelphia, PA:
Butterworth Heinemann, 2007.
Hirakata A, Makoto I, Hiraoka T, McCuen II BW. Vitrectomy without Laser
Treatment or Gas Tamponade for Macular Detachment Associated with an Optic
Disc Pit. Ophthalmology 2012; 119: 810-818.