Oculoauriculovertebral (Goldenhar's) syndrome (OAVS) comprises anomalies of the first and second branchial arch derivatives.1 Characteristic features of this syndrome include structural malformations involving the external and middle ears, eyes, face, skin, vertebrae, and jaw.1·2 The manifestations are protean and heterogeneous and are believed to occur as a result of either ectodermal nondysj unction or asynchrony in the migration of neural crest cells early in embryonal development, with subsequent mesodermal tethering.3
Ocular associations of this syndrome mainly involve the anterior segment and orbital adnexa.1'2 Posterior segment anomalies are relatively rare.45 We report an unusual case of Goldenhar's syndrome in a patient who presented with bilateral disk abnormalities, including a morning glory anomaly with a bridging choroidal coloboma in one eye and a dysmorphic disk with an extensive inferior choroidal coloboma in the other eye. To the best of our knowledge, an association between the morning glory disk anomaly and Goldenhar's syndrome has not been reported previously.
A 12-year-old girl with left-sided hemifacial microsomia (Fig. 1) presented to the outpatient department at Sir Ganga Ram Hospital, New Delhi. The child was of normal mentation and had no anomalies of the cardiovascular, neurologic, or renal systems. Roentogram of the cervical spine showed abutting of the lordotic curvature. She had conduction deafness in the left ear on pure tone audiometry, although no external ear deformities were present. Preauricular tags were present bilaterally. The patient was the fourth child of her parents, with no family history of similar clinical symptoms. The perinatal history of the mother was insignificant.
On ocular examination, best-corrected visual acuity in the right eye was 6/6 (+0.75 DS/+0.75 DC at 180°) as measured by the Snellen visual acuity charts, whereas that in the left eye was finger counting at l/2 m (+3 DS). The right corneal diameter measured 11.5 mm horizontally and 12 mm vertically versus 8.2 and 7.5 mm, respectively, in the left eye. The left eye had a dermolipoma encroaching on the cornea temporally and inferiorly (Figs. IA and B and 2B). The axial length was 21.89 mm in the right eye and 21.30 mm in the left eye. The left eye showed a relative afferent pupillary defect. Typical congenital iris colobomas were present in both eyes (Fig. 2A and B). A complicated cataract was present in the left eye. Ocular movements were full. The rest of the findings on anterior segment examination, including recording of intraocular pressure, were unremarkable. Fundus examination showed a right-sided morning glory disk anomaly with a bridging choroidal coloboma inferior to the disk and a left-sided dysplastic optic nerve with an extensive inferior choroidal coloboma involving the disk and macula (Fig. 2C and D). The fixation pattern was foveal in the right eye. ?-pattern visual evoked response examination of the left eye showed reduced amplitudes and markedly increased latency. Visual field examination with a Goldmann perimeter showed generalized constriction of the visual field of the right eye. A similar examination was not possible in the left eye. Neuroradiologic and endocrine evaluation did not show any abnormalities.
The patient was given appropriate refractive correction in the right eye, and the visual prognosis in the left eye was explained.
Morning glory syndrome is a congenital optic disk anomaly in which much of the excavated colobomatous optic disk is filled with glial tissue. Systemic clinical features of this condition include Aicardi's syndrome, moyamoya disease, Joubertlike syndrome, midline cranial defects, and central nervous system anomalies.6"10 Ocular associations include persistent hyaloid artery remnants, strabismus, and retinal detachment.6-10
Some consider hemifacial microsomia, a rare, usually sporadic craniodentofacial anomaly, a component of the oculoauriculovertebral complex, whereas others treat it as a separate clinical entity, primarily affecting the structures of the first and second branchial arches.1"4 The clinical manifestations of the condition are highly variable. It has been suggested that hemorrhage involving the first and second branchial arches causes hypoplasia and malformation of the face and auricle, but this theory cannot explain the multisystemic and protean manifestations of this disease.2·3 OAVS has been considered to be a disorder of ectodermal nondysj unction involving the otic placode, similar to the spectrum of diseases, such as occult spinal dysraphism, associated with the same mechanism in the embryonic neuraxis. This would imply a molecular mechanism involving cell adhesion molecules that unify the two disease processes and explain the multiple systemic anomalies of OAVS.1,3,11-13
Ophthalmic features of OAVS include epibulbar dermoids, dermolipomas, eyelid colobomas, facial neuropathies, ophthalmoplegias, strabismus, Duane's syndrome, cryptophthalmos, microphthalmos, uveal colobomas, nasolacrimal obstructions, dry eye syndrome, aniridia, cataract and glaucoma, optic nerve hypoplasia, tilted optic disks, tortuous retinal vessels, pseudopapilledema, choroidal colobomas, optic nerve colobomas, macular hypoplasia, and macular heterotopia.1-5,11-13
Although both morning glory syndrome and OAVS have multiple systemic and ocular features, an association between the two of them has not been reported before. Our patient had hemifacial microsomia of the left side of the face, microcornea with a complicated cataract and a massive dermolipoma in the same eye, bilateral preauricular tags, and bilateral typical iris colobomas suggestive of Goldenhar's syndrome. She also had other systemic findings that corroborated that diagnosis. The finding of bilateral optic nerve dysmorphosis is unusual. There is only one previous report of a patient with hemifacial microsomia and bilateral optic disk anomalies.4 This could be the result of a developmental insult at approximately the fifth week of gestation, when the optic vesicle reaches the overlying ectoderm, with subsequent closure of the embryonic fissure, followed by the growth of the maxillary processes beneath it. Optimum management of such patients requires a multispeciality approach involving different branches of medicine, including plastic surgery, otolaryngology, ophthalmology, oral surgery, neurology, anesthesiology, and genetic counseling.1
1. Stoll C, Viville B, Treisser A, Gasser B. A family with dominant oculo-auriculo-vertebral spectrum. AmJMed Ge net 1998; 78: 345349.
2. Mansour AM, Barber JC, Reinecke RD, Wang FM. Ocular choristomas. Surv Opthalmol 1989;33:339-358.
3. Lam CH. A theory on the embryogenesis of oculo-auriculo-vertebral (Goldenhar) syndrome. J Craniofac Surg 2000; 11:547-552.
4. Menon V, Chaudhuri Z, Saxena R, An optic nerve hypoplasia and coloboma in a patient with hemifacial microsomia. J Pediatr Ophthalmol Strabismus 2004;41:238-240.
5. MargolisS, Aleksic S, Charles N, McCarthy J, Greco A, Budzilovich G. Retinal and optic nerve findings in Goldenhar- Go rii n syndrome. Ophthalmology 1984;91:1327-1333.
6. Chan RT, Chan HH, Collin HB. Morning glory syndrome. CUn Exp O/»i2002;85:383-388.
7. Taskintuna I, Oz O, Teke MY, Kocak H, Firat E. Morning glory syndrome: association with moyamoya disease, midline cranial defects, CNS anomalies, and persistent hyaloid remnant. Penna 2003:23:400-402.
8. Giampetro PF, Babu D, Koehn MA, et al. New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria. Am J Med Genet 2004; 129:202-208.
9. Pierre-Filho Pde T, Lemeira-Soares PH, Marcondes AM. Morning glory syndrome associated with posterior pituitary ectopia and hypopituitarism. Acta Ophthalmol Scand 2004;82:89'92.
10. Janecke AR, Muller T, Gassner I, et al. Jo ubert-like syndrome unlinked to known candidate loci. J Pediatr 2004; 144: 264-269.
11. Fries PD, KatowitzJA. Congenital craniofacial anomalies of ophthalmic importance. Surv O//ití!w/»io/1990;35:87-119.
12. Casey HD, Braddock SR, Haskins RC, Carey JC, Morales L Jr. Frontonasal malformation and the oculoauriculovertebral spectrum: the oculo auriculofro n to nasal syndrome. Cleft Palate Craniofac J 1996;33:519-523.
13. Singer SL, Haan E, Slee J, Goldblatt J. Familial hemifacial microsomia due to autosomal dominant inheritance: case reports. Awt Dental J 1994;39:287-291.