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Research Letters |

Orbital Bands in Gomez-Lopez-Hernandez Syndrome FREE

Michel J. Belliveau, MD; Brian W. Arthur, MD
[+] Author Affiliations

Author Affiliations: Department of Ophthalmology, Queen's University, Kingston, Ontario, Canada.


Arch Ophthalmol. 2012;130(11):1496-1497. doi:10.1001/archophthalmol.2012.703.
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Published online

Orbital bands are anomalous muscle tissue connections between recti muscles or between a rectus muscle and the globe. Also known as supernumerary extraocular muscles, they have been identified by magnetic resonance imaging in 0.8% of orthotropic and 2.4% of strabismic patients.1 Gomez-Lopez-Hernandez syndrome (OMIM 601853) is a rare sporadic syndrome reported in only 27 patients worldwide to date.2 This syndrome, also known as cerebellotrigeminal dermal dysplasia, has not received any attention in the ophthalmic literature. The characteristic triad is rhombencephalosynapsis, trigeminal anesthesia, and bilateral alopecia in the parietal or parieto-occipital regions. Additional features are listed in the Table.

Table Graphic Jump LocationTable. Features of Gomez-Lopez-Hernandez Syndrome

A 9-month-old girl was referred for assessment of strabismus with abnormal head posture. She was the first child of nonconsanguineous parents and was delivered at full term. There was no family history of strabismus. Suspicion of gross motor delay had been raised. Her fixation was central, steady, and maintained in each eye. Teller card visual acuity was estimated at 20/960 OU, improving to 20/94 OU at the next visit with full correction of refractive error (+2.50 + 1.00 × 75° OD, +2.50 + 1.50 × 125° OS) determined by cycloplegic refraction. She adopted an abnormal head position with 20° chin elevation and 30° right head tilt. Esotropia (ET) with an A pattern was detected: 30 prism diopters (Δ) ET in the primary position, 40Δ ET in upgaze, and 14Δ ET in downgaze. There was no evidence of superior oblique overaction in either eye. Bilateral incyclotorsion was noted on funduscopy. With these findings and possible facial dysmorphism (Figure 1), a computed tomographic scan was ordered to assess the orientation of the orbits and to exclude craniosynostosis. Thin bands connecting the lateral aspects of the superior and inferior recti bilaterally were noted. Magnetic resonance imaging clearly delineated these bands, which had signal characteristic of extraocular muscle (Figure 2A-C). The orbits were incyclorotated as determined by a plane joining the medial and lateral recti (Figure 2A). The cranial sutures appeared normal. The cerebellum showed fusion of the cerebellar hemispheres (rhombencephalosynapsis) characteristic of Gomez-Lopez-Hernandez syndrome (Figure 2D).

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Figure 1. Temporoparietal alopecia and low-set, posteriorly rotated ears, which are features of Gomez-Lopez-Hernandez syndrome.

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Figure 2. Magnetic resonance images. A, T2-weighted coronal view showing thin bands (arrows) joining the lateral aspects of the superior and inferior recti bilaterally. B, T1-weighted coronal view of the left orbital band. C, Sagittal view of a magnetization-prepared rapid gradient echo sequence of the left orbital band (arrow) showing the anterior-posterior dimension. D, Coronal view of a magnetization-prepared rapid gradient echo sequence showing a fused cerebellum without distinct hemispheres.

Further examination, including evaluation by a medical geneticist, confirmed the presence of all features listed in theTable with the exception of corneal opacities.

The patient subsequently underwent 4.5-mm medial rectus recessions with full tendon width upshift for the A pattern. The initial postoperative result was microtropia but with persistence of 15Δ of A pattern. Three years later, she underwent 5-mm lateral rectus recessions for 20Δ exotropia plus two-thirds tendon width downshift. One year later, she has 20Δ ET with 10Δ of A pattern. Fundus examination still shows moderate bilateral incyclotorsion.

High-resolution magnetic resonance imaging of the orbits, aided particularly by the use of surface coil techniques, allows detection of anomalous attachments between muscles or to the globe, previously detectable only during postmortem examination or occasionally intraoperatively.3 These structures can be an incidental finding or a cause of restrictive strabismus. The imaging findings alone are not a reliable predictor of the strabismus pattern. The case described here of an A-pattern ET with thin bands connecting the lateral borders of the superior and inferior recti differs from the cases reported by Khitri and Demer1 showing the same band anatomy in the setting of a V-pattern ET, right hypertropia, or orthophoria with elevation deficit. In our case, the contribution of the anomalous bands to the strabismus pattern cannot be apportioned from the rotated axis of the horizontal recti. A-pattern strabismus has been reported in association with rhombencephalosynapsis in 3 patients who did not have focused imaging of their orbits.4

Most orbital bands cannot be accessed during conventional strabismus surgery, but there have been reports of treatment.5,6 This case highlights the difficulties in obtaining stable eye alignment postoperatively when orbital bands possibly interfere with normal globe rotations.

Correspondence: Dr Belliveau, Department of Ophthalmology, Queen's University, Hotel Dieu Hospital, 166 Brock St, Kingston, Ontario, Canada, K7L 5G2 (michel.belliveau@queensu.ca).

Conflict of Interest Disclosures: None reported.

Khitri MR, Demer JL. Magnetic resonance imaging of tissues compatible with supernumerary extraocular muscles.  Am J Ophthalmol. 2010;150(6):925-931
PubMed   |  Link to Article
Sukhudyan B, Jaladyan V, Melikyan G, Schlump JU, Boltshauser E, Poretti A. Gómez-López-Hernández syndrome: reappraisal of the diagnostic criteria.  Eur J Pediatr. 2010;169(12):1523-1528
PubMed   |  Link to Article
Lueder GT. Anomalous orbital structures resulting in unusual strabismus.  Surv Ophthalmol. 2002;47(1):27-35
PubMed   |  Link to Article
Phillips PH, Glasier CM, Brodsky MC. Neuro-ophthalmologic findings in patients with rhombencephalosynapsis.  J AAPOS. 2008;12(1):97-99
PubMed   |  Link to Article
Lueder GT, Dunbar JA, Soltau JB, Lee BC, McDermott M. Vertical strabismus resulting from an anomalous extraocular muscle.  J AAPOS. 1998;2(2):126-128
PubMed   |  Link to Article
Dobbs MD, Mawn LA, Donahue SP. Anomalous extraocular muscles with strabismus.  AJNR Am J Neuroradiol. 2011;32(9):E167-E168
PubMed   |  Link to Article

Figures

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Figure 1. Temporoparietal alopecia and low-set, posteriorly rotated ears, which are features of Gomez-Lopez-Hernandez syndrome.

Place holder to copy figure label and caption
Graphic Jump Location

Figure 2. Magnetic resonance images. A, T2-weighted coronal view showing thin bands (arrows) joining the lateral aspects of the superior and inferior recti bilaterally. B, T1-weighted coronal view of the left orbital band. C, Sagittal view of a magnetization-prepared rapid gradient echo sequence of the left orbital band (arrow) showing the anterior-posterior dimension. D, Coronal view of a magnetization-prepared rapid gradient echo sequence showing a fused cerebellum without distinct hemispheres.

Tables

Table Graphic Jump LocationTable. Features of Gomez-Lopez-Hernandez Syndrome

References

Khitri MR, Demer JL. Magnetic resonance imaging of tissues compatible with supernumerary extraocular muscles.  Am J Ophthalmol. 2010;150(6):925-931
PubMed   |  Link to Article
Sukhudyan B, Jaladyan V, Melikyan G, Schlump JU, Boltshauser E, Poretti A. Gómez-López-Hernández syndrome: reappraisal of the diagnostic criteria.  Eur J Pediatr. 2010;169(12):1523-1528
PubMed   |  Link to Article
Lueder GT. Anomalous orbital structures resulting in unusual strabismus.  Surv Ophthalmol. 2002;47(1):27-35
PubMed   |  Link to Article
Phillips PH, Glasier CM, Brodsky MC. Neuro-ophthalmologic findings in patients with rhombencephalosynapsis.  J AAPOS. 2008;12(1):97-99
PubMed   |  Link to Article
Lueder GT, Dunbar JA, Soltau JB, Lee BC, McDermott M. Vertical strabismus resulting from an anomalous extraocular muscle.  J AAPOS. 1998;2(2):126-128
PubMed   |  Link to Article
Dobbs MD, Mawn LA, Donahue SP. Anomalous extraocular muscles with strabismus.  AJNR Am J Neuroradiol. 2011;32(9):E167-E168
PubMed   |  Link to Article

Correspondence

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