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| CASE REPORT |
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| Year : 2018 | Volume
: 5
| Issue : 2 | Page : 51-55 |
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Congenital optic disc anomalies: Diagnosis and clinical manifestations
Anushree Gupta
Department of Ophthalmology, Dr. Radhakrishnan Government Medical College, Hamirpur, Himachal Pradesh, India
| Date of Submission | 02-Feb-2020 |
| Date of Acceptance | 20-Mar-2020 |
| Date of Web Publication | 12-Jul-2020 |
Correspondence Address:
Dr. Anushree Gupta
House Number 39, HIG, Housing Board Colony, Nalti Road, Naya Nagar, Ward Number 8, Hamirpur - 177 001, Himachal Pradesh
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/bijo.bijo_9_18
Congenital optic nerve head anomalies are a group of structural malformations of the optic nerve head and surrounding tissues. Visual prognosis depends on the type of anomaly present. Different systemic associations can be seen with congenital optic nerve anomalies. Newer ancillary investigations aid in diagnosis as well as detection of complications. Therefore, correct diagnosis and monitoring is important. Congenital optic nerve head anomalies are classified according to the abnormalities of optic disc size, conformation, or by the presence of abnormal tissue at the nerve head (pseudoswelling). Here, we present two cases of congenital optic disc anomalies with abnormality of conformation – optic disc pit and Morning Glory disc.
Keywords: Congenital, decreased vision, optic disc
How to cite this article:
Gupta A. Congenital optic disc anomalies: Diagnosis and clinical manifestations. Albasar Int J Ophthalmol 2018;5:51-5 |
| Introduction | |  |
Optic nerve anomalies can be categorized as congenital or acquired. Congenital optic nerve anomalies are classified according to the abnormalities of optic disc size, conformation, or by the presence of abnormal tissue at the nerve head (pseudoswelling). Acquired abnormalities of the optic nerve are classified according to the reaction of the optic nerve to insult as follows: cupping, swelling, and atrophy. Here, we present two cases of congenital optic disc anomalies with abnormality of conformation – optic disc pit (ODP) and Morning Glory disc.
| Case Report | | |
Case 1
A 34-year-old woman presented in the outpatient department with a chief complaint of poor vision in the right eye (OD) for the past 8 years, which was progressively decreasing for the past 3 months. There was no history of pain, redness, flashes, or floaters. There was no relevant past medical history. General physical and systemic examination was normal. Her best-corrected visual acuity (BCVA) was 6/60 in the right eye (OD) and 6/6 in the left eye (OS). Anterior segment and intraocular pressure were normal. Pupils were round and reactive. Dilated fundus examination of the right eye showed an oval, grayish cater-like defect of 1/4th disc size in the temporal aspect of the disc. Macular detachment was seen confined within the arcades [Figure 1]. Retinal pigmentary epithelial changes were also present. Left fundus was normal. [Figure 2]. Red-free photograph of the right eye [Figure 3] and the Fundal Fluorescein angiography (FFA) Early phase showed early hypofluorescence of the optic pit [Figure 4]. Which followed by Arteriovenous phase hyperfluorescence in the Macular area [Figure 5], and the Late phase showed hyperfluorescence of the Optic disc pit [Figure 6]. FFA of the left eye was normal [Figure 7]. Stratus Optical Coherence Tomography (OCT) of the right eye (OD) revealed Serous Macular Neurosensory Detachment with splitting of the inner and outer retinoschisis-like separation [Figure 8]. In the meantime showed Communication between macular detachment and optic pit [Figure 9]. OCT result was confirmed by B-Scan Ultrasonography [Figure 10]. | Figure 1: Fundus photograph of the right eye: ¼th disc diameter sized optic pit in the temporal aspect of the disc with macular detachment
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 | Figure 4: Fluorescein angiography of the right eye: Early phase showing hypofluorescence of the pit
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 | Figure 5: Fluorescein angiography of the right eye: Arteriovenous phase showing hyperfluorescence in the macular area
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 | Figure 6: Fluorescein angiography of the right eye: Late phase showing hyperfluorescence of the pit
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 | Figure 8: Optical coherence tomography of the right eye: Serous macular detachment and retinoschisis
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 | Figure 9: Optical coherence tomography of the right eye: Communication between macular detachment and optic pit
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A gradually increasing hyperfluorescence with a petalloid pattern of hypo- and hyperfluorescence was seen in the area of serous macular detachment. A diagnosis of optic pit with serous macular detachment was made. The patient refused treatment due to personal reasons.
Case 2
A 50-year-old woman presented in the outpatient department for eye examination. Her Best Corrected Visual Acuity (BCVA) in the right eye was 6/6, while that in the left eye was only Hand Movements vision (HM) close to face only. Her left eye vision had been poor since childhood. Anterior segment and intraocular pressure was within normal range. There was a mild afferent pupillary defect in the left eye. Ocular alignment was orthophoric, and extraocular examination was full in all directions of gazes. Following cycloplegia, retinoscopy findings were +0.50 D in the right eye and −3.00 D in the left eye, which did not improve with refraction.
Fundus examination of the left optic disc was enlarged, excavated, funnel shaped, and with multiple anomalous, thin vessels radiating circumferentially and then straightened into the peripheral retina. A tuft of white material obscured the central cup. There was a wide area of peripapillary pigment abnormality, with zones of hyperpigmentation and hypopigmentation. The foveal reflex was dull with no involvement of peripheral retina [Figure 11]. Fundus examination of the right eye was normal [Figure 12]. Magnetic resonance imaging brain and orbit was normal. Rest of her general physical and systemic examination was normal. The diagnosis was made of isolated Morning Glory syndrome [Figure 11].
| Discussion | | |
Optic disc pit [Figure 1]
ODPs are a rare congenital anomaly first described by Weithe in 1882.[1] They are localized excavations in the optic disc and are mostly located on the temporal aspect of the optic disc. They occur equally in men and women, with an estimated incidence of 1 in 11,000 people.
Pits are unilateral in 95% of cases; vary in color, mostly being gray. Peripapillary retinal pigment epithelial changes and choroidal atrophy are seen in most of the eccentrically located pits. ODPs are usually asymptomatic although visual field defects and maculopathy have been demonstrated.
Visual field defects include nasal and temporal steps, altitudinal defects, paracentral scotomas, arcuate scotomas, generalized constriction, and localized constriction.[2],[3] Systemic associations are typically not seen in conjunction with congenital optic pits.
Maculopathy occurs in 25%–75% of patients with optic nerve pits, usually between the third and fourth decades of life, leading to visual deterioration.[4] There are different theories regarding the source of fluid in maculopathy. It is proposed that vitreous fluid can enter the subretinal space through the formation of a macular hole. Other theories postulated that the sources could be the cerebrospinal fluid that comes through the Optic Disc Pit (ODP) defect, or due to leakage from the blood vessels at the Optic Disc Pit or from the choroid, through the Bruch's membrane and peripapillary atrophy.[5],[6],[7] Progression of retinal fluid formation has been described, in which fluid from the ODP creates a schisis-like inner retinal separation, associated with a mild cecocentral scotoma. Then, an outer layer macular hole develops beneath the inner layer, associated with a dense central scotoma. The fluid then dissects subretinally creating an outer retinal detachment.[8]
Optical Coherence Tomography (COT) can demonstrate subretinal fluid, retinoschisis, intraretinal fluid, and lamellar macular holes in case of Optic Nerve Pit (ONP) with Maculopathy.[9] Fluorescein angiography shows early hypofluorescence and late staining in the area of the ODP. A well-delineated, round or oval area of late hyperfluorescence corresponding to the area of macular elevation is seen.[10]
Management of ODP-related maculopathy includes numerous techniques such as laser photocoagulation, intravitreal gas injection, macular buckling, and pars plana vitrectomy.[11]
Morning Glory anomaly
It is a rare disc anomaly first described by Kindler in 1970. It is a nonprogressive, unilateral condition usually occurring as an isolated ocular anomaly. Vision is usually impaired in the affected eye. PAX 6 gene mutation can be responsible.
It is characterized by a funnel-shaped excavation that incorporates the enlarged optic disc with a surrounding area of peripapillary chorioretinal pigmentary changes. A white glial tuft is present at the center of the disc and represents persistent hyaloid remnants. Similar to petals on a flower, the blood vessels emanate radially from the disc. The blood vessels are high in number and hence difficult to distinguish arteries from veins. If the macula is incorporated into the excavation, it is termed as macular capture.
It is common to find relative afferent pupillary defect and visual field defects such as enlarged blind spot, strabismus, and amblyopia. This can be complicated with serous retinal detachment in 30% of cases and rarely choroidal neovascularization. Systemic associations include frontonasal dysplasia, mid-facial anomalies, basal encephalocele, posterior fossa brain malformation, and pituitary insufficiency.[3]
Isolated Morning Glory syndrome usually does not require treatment unless associated with complications.[12]
Management of Morning Glory syndrome with a nonrhegmatogenous serous detachment includes pars plana vitrectomy, gas injection, and peripapillary laser.[13]
| Conclusion | | |
The diagnosis of optic disc anomalies is usually made on clinical examination itself. Different investigative techniques such as ultrasound B scan, fluorescein angiography, and optical coherence tomography are useful in confirming the diagnosis and early detection of any complications. A proper systemic evaluation should be done wherever any systemic association is suspected.
Declaration of patient consent
The authors declare that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published, and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Acknowledgment
I would like to express my deepest appreciation to Dr. S. N. Jha, Head of Department, Ophthalmology, Sir Ganga Ram Hospital, New Delhi, who provided me the guidance and encouragement to complete this report.
- Ka Hyun Lee
- Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, Seoul, Korea.
- Find articles by Ka Hyun Lee
- Sun Hyup Han
- Yonsei University College of Medicine, Seoul, Korea.
- Find articles by Sun Hyup Han
- Jin Sook Yoon
- Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, Seoul, Korea.
- Find articles by Jin Sook Yoon
- Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, Seoul, Korea.
- Yonsei University College of Medicine, Seoul, Korea.
- Corresponding Author: Jin Sook Yoon. Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, Seoul, Korea. ca. shuy@sjnooy.
Financial support and sponsorship
Nil.
Conflicts of interest
The are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9], [Figure 10], [Figure 11], [Figure 12]
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