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How orthoptists play role in craniofacial syndrome therapy

Article

Orthoptists’ skills can be extremely helpful in the management of patients with craniofacial syndromes, since large percentages of patients afflicted by various syndromes have amblyopia or strabismus.

Take-Home

Orthoptists’ skills can be extremely helpful in the management of patients with craniofacial syndromes, since large percentages of patients afflicted by various syndromes have amblyopia or strabismus.

 

Schweinler

By Lynda Charters; Reviewed by Bonita Schweinler, CO, COMT

Boise, ID-Orthoptists can be extremely helpful in the management of children with craniofacial syndromes. Large percentages of patients who are afflicted by various syndromes have amblyopia or strabismus and it is for these patients that orthoptists’ skills are so valuable.

Bonita Schweinler, CO, COMT-an orthoptist at St. Luke’s Children’s Hospital, Boise, ID-described the most frequently seen craniofacial syndromes and their manifestations. See sidebar "Craniofacial syndromes."

The role of orthoptists

“In children with these syndromes, the common causes of visual problems are corneal abnormalities, ocular adnexa abnormalities, amblyopia, strabismus, and optic neuropathy,” Schweinler said.

Corneal abnormalities include corneal exposure resulting from neurotrophic keratitis, eyelid malposition, and eyelid retraction. Ocular adnexa abnormalities are hypertelorism, telecanthus, ptosis, proptosis, corneal exposure, and epiphora. Optic neuropathy can occur with papilledema and optic nerve atrophy.

By far, the most common disorders are amblyopia and strabismus, she noted.

Amblyopia affects a high percentage of patients. A study by Khan and associates (Br J Ophthalmol. 2003;87:999-1003) of 141 patients found that 52% of eyes had a Snellen visual acuity of 20/40 or worse. About 40% of patients had a visual acuity of 20/40 or worse in the better eye and 64.6% had 20/40 or worse in at least on eye.

“This study indicated that there is a huge chance for decreased vision in this population,” Schweinler said.

 

 

The same study also found that about 40% of patients had 1 D or more of astigmatism in either eye and 64% of them had oblique astigmatism.

Anisometropia is a factor in a substantial number of patients, 58% of those with Crouzon syndrome and 33% of Apert syndrome.

Deprivational amblyopia can result from corneal scarring and ptosis.

Strabismus develops in a large number of these patients-i.e., in 94% of those with Apert syndrome, 82% in Crouzon syndrome, 56% of patients with craniosynostosis, and 29% with Goldenhar syndrome.

Khan et al. also reported that the strabismus was exotropic in 38% of patients, esotropic in 32%, straight in 24%, and vertical only in 6%, the last of which could have been higher except for the lack of patient cooperation, according to Schweinler.

In patients with amblyopia and strabismus, orthoptists can plan a big role in managing these patients, Schweinler commented. During the visual examination, orthoptists have special skills to examine patients with a variety of disabilities.

“Orthoptists are taught unique skills for diagnostic testing and are trained to evaluate and diagnose disorders of binocular vision and ocular motility,” she said.

Orthoptists follow patients with amblyopia closely in clinic and use patching and atropine to manage the patients.

Their refractometry skills become very useful by conducting the ocular motility examination and diagnosing exotropia, esotropia, inferior oblique overaction, superior oblique underaction, and identify V patterns in patients with exotropia, she added.

The primary message is that orthoptists can be extremely helpful with patients with craniofacial syndromes.

“Orthoptists can help by being creative, by being patient, and by being ready to perform a great examination to gain the maximal ophthalmic information and optimize the treatment to achieve better vision and straight eyes,” Schweinler concluded.

 

 

 

 

Craniofacial syndromes

  • Craniosynostosis-premature closure of one or more cranial sutures-is the most common human congenital skull defect.

  • Apert syndrome is characterized by a high full forehead, small nose, flat faces, shallow orbits, hypopituitarism, strabismus, down-slanting palpebral fissures, varying degrees of syndactyly, and dental anomalies.

  • Crouzon syndrome is often characterized by ocular proptosis due to shallow orbits, exposure keratitis, optic atrophy, keratoconus, iris colobomas, and strabismus.

  • Patients with Pfeiffer syndrome have brachycephaly, a high forehead, hyperpituitarism, small nose with a low nasal bridge, syndactyly, and normal to near-normal intelligence.

  • Saethre-Chotzen syndrome features brachycephaly, a high flat forehead, facial asymmetry, deviated septum, shallow orbits, ptosis, lacrimal duct abnormalities, and strabismus.

  • Treacher-Collins syndrome is characterized by mandibulofacial dystosis, micromasia, absent cheekbone, eyelid colobomas, hearing loss, and down-slanting palpebral fissures.

  • Goldenhar syndrome shows limbal dermoids, Duane’s syndrome, preauricular skin tag, strabismus, and cleft palate and lip.

 

 

 

Bonita Schweinler, CO, COMT

E: schweinb@slhs.org

Schweinler has no financial interest in any aspect of this report.

 

 

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