Journal of Pediatric Ophthalmology and Strabismus

Short Subjects 

Unilateral Morning Glory Disc Anomaly With Ipsilateral Limbal Dermoids

Eugene A. Lowry, BA; Alejandra G. de Alba Campomanes, MD, MPH

Abstract

The authors present the case of a child with multiple limbal dermoids and morning glory disc anomaly in the right eye. These anomalies are rarely associated and this is the first report of co-occurrence in the same eye in a patient without additional systemic anomalies. [J Pediatr Ophthalmol Strabismus 2014;51:e37–e39.]

From the Department of Ophthalmology, University of California, San Francisco, California.

The authors have no financial or proprietary interest in the materials presented herein.

Correspondence: Alejandra G. de Alba Campomanes, MD, MPH, 10 Koret Way, Room K301, P. O. Box 0730, San Francisco, CA 94143. E-mail: dealbaa@vision.ucsf.edu

Received: January 06, 2014
Accepted: April 11, 2014
Posted Online: May 28, 2014

Abstract

The authors present the case of a child with multiple limbal dermoids and morning glory disc anomaly in the right eye. These anomalies are rarely associated and this is the first report of co-occurrence in the same eye in a patient without additional systemic anomalies. [J Pediatr Ophthalmol Strabismus 2014;51:e37–e39.]

From the Department of Ophthalmology, University of California, San Francisco, California.

The authors have no financial or proprietary interest in the materials presented herein.

Correspondence: Alejandra G. de Alba Campomanes, MD, MPH, 10 Koret Way, Room K301, P. O. Box 0730, San Francisco, CA 94143. E-mail: dealbaa@vision.ucsf.edu

Received: January 06, 2014
Accepted: April 11, 2014
Posted Online: May 28, 2014

Introduction

Limbal dermoids are congenital collections of epidermal and connective tissue.1 They are most commonly located inferotemporally to the cornea, with infrequent presentations in other quadrants or as rings surrounding the cornea.1 Limbal dermoids are frequently associated with palpebral coloboma and abnormalities of the first branchial arch and Goldenhar syndrome.1

Morning glory disc anomaly is a rare malformation in which the optic disc is funnel shaped with a central glial tuft and linear, radial blood vessels that resemble a morning glory flower.2 The condition may be associated with retinal detachments and neural malformations, including agenesis of the corpus callosum, Chiari type 1 malformation, pituitary abnormalities, and Moyamoya disease.2

Two recent case reports suggest the possibility for association between morning glory disc anomaly and limbal dermoids in the presence of additional facial dysmorphology. One report describes a 12-year-old girl with morning glory disc anomaly and Goldenhar syndrome, but without the frequently co-occurring limbal dermoids.3 The other case describes a 26-month-old boy with an oblique facial cleft, bilateral limbal dermoids, and morning glory disc anomaly. However, no photographs were provided in this latter case and it is unclear from the description whether the case truly represents morning glory disc anomaly or a coloboma of the optic nerve.4 In both cases, the patients had multiple additional craniofacial anomalies.

We present the case of a child with morning glory disc anomaly and limbal dermoids co-occurring in the same eye. This is the first case report showing an intraocular association between these two anomalies in the absence of additional craniofacial anomalies.

Case Report

A 6-month-old male infant presented to the pediatric ophthalmology clinic for evaluation of white masses on the right eye since birth. He was born full term and had no other medical problems or family history of eye disease. He had normal hearing, no non-ocular craniofacial anomalies (specifically no facial microsomia, cleft palate, preauricular skin tags, or hair abnormalities). He had normal bilateral red reflexes, no afferent pupillary defect, and was able to fix and follow. The patient objected to covering of the left eye and was estimated to have a Teller grating visual acuity of 0.32 cy/cm (20/2,700) in the right eye and 1.3 cy/cm (20/670) in the left eye. The anterior segment examination revealed four limbal dermoids in the right eye, all invading the cornea: three smaller dermoids located at the inferonasal limbus and one larger, superior dermoid (Figure 1). A dilated fundus examination of the right eye revealed a normal macula with good foveal light reflex but an excavated optic nerve head with displaced vessels distributed radially and following a straight path to the periphery, consistent with morning glory disc anomaly (Figure 2). Dilated examination of the left eye revealed no abnormalities. The diagnosis of morning glory disc anomaly was confirmed by visualizing spontaneous contraction of the optic nerve rim. Cycloplegic refraction was −2.25 + 7.75 × 45 in the right eye and +0.25 diopter sphere in the left eye, and glasses were prescribed. Magnetic resonance imaging and magnetic resonance angiogram of the brain revealed no abnormalities.

External photograph reveals a large limbal dermoid superiorly in the 10- to 12-o’clock positions with multiple inferonasal dermoids.

Figure 1.

External photograph reveals a large limbal dermoid superiorly in the 10- to 12-o’clock positions with multiple inferonasal dermoids.

Fundus photograph demonstrating an excavated optic nerve with displaced vessels distributed radially, consistent with morning glory disc anomaly.

Figure 2.

Fundus photograph demonstrating an excavated optic nerve with displaced vessels distributed radially, consistent with morning glory disc anomaly.

The patient underwent a lamellar keratoplasty with amniotic membrane graft at 9 months of age, given concern that tear film pooling at the dermoids on the distorted cornea was further aggravating a baseline astigmatism, as described with other corneal growths.5 At surgery, the superior dermoid was noted to invade the cornea to a 70% depth while the inferior dermoids invaded to a 40% depth. The diagnosis of limbal dermoid was confirmed histopathologically. At 3 months postoperatively, the patient had steady fixation in both eyes and did not object to covering either eye. He had a cycloplegic refraction of −2.50 + 5.00 × 150 in the right eye and +1.25 diopter sphere in the left eye. He was treated with glasses until 30 months of age, when patching was initiated in the setting of poor glasses compliance and an examination notable for evidence of amblyopia including left eye fixation preference with a 15-prism diopters base-down test and objection to covering the left eye.

Discussion

Limbal dermoids may occur alone or as part of Goldenhar syndrome. They have an incidence of approximately 1 in 10,000.1 Limbal dermoids in Goldenhar syndrome may be caused by a vascular insult, a theory that is supported by animal models, the known risk factors of smoking, twinning, and vasoactive medication use, and association with thrombophilia genes.6 Specifically, a vascular disturbance in the developing stapedial artery may lead to unilateral limbal dermoids with first and second branchial arch anomalies.6 Limbal dermoids are also associated with Duane syndrome.7 Smaller dermoids are generally treated conservatively.1 Larger dermoids can induce severe astigmatism or encroach on the visual axis and are often removed.1 After removal, vision may continue to be compromised by ongoing astigmatism induced by the surgical scar.1

Morning glory disc anomaly is a rare congenital optic nerve anomaly.8 It is associated with a visual acuity less than 20/40 in 70% of cases.8 Morning glory disc anomaly may also be a result of embryologic ischemia.9 This theory is based on the left-sided and female predominance of morning glory disc anomaly, which could be explained by thromboembolic risk, as well as its associations with other vascular disorders such as Moyamoya disease.9 Similar to limbal dermoids, morning glory disc anomaly is also associated with cleft palate and Duane syndrome.10,11

This is the first report of a patient with isolated limbal dermoids and morning glory disc anomaly without additional craniofacial findings and the third in recent literature to suggest a possible association between the two findings.3,4 A confirmed association between these ocular anomalies would suggest a shared pathogenesis. The ipsilateral presentation seen in this case in the absence of additional facial anomalies suggests that the insult may occur at the level of the developing eye. Potential mechanisms that have been proposed to explain either disorder independently include Pax family gene mutations, intrinsic neural crestopathy, and vascular perturbations.6,8 Prenatal ischemia remains one of the most appealing mechanisms because it has been proposed independently to explain both phenomena. There is a shared susceptible period for such an insult during weeks 5 to 7 of embryogenesis. During this period, the lens and cornea have separated, but the basement membrane of the corneal epithelium has not yet developed and a disturbance could lead to a dermoid penetrating into corneal stroma without affecting the lens.12 Indeed, animal models suggest that days 30 to 45 of embryologic development are at highest risk for Goldenhar syndrome.6 This is also a window when the optic fissure has not yet closed and a disruption of fissure fusion may lead to morning glory disc anomaly.12,13 Regardless of etiology, these patients require close follow-up because they are at risk for poor visual acuity from both astigmatic amblyopia and their optic nerve anomaly.

References

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