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Apert Syndrome Is a Congenital Disorder Causing Abnormal Development of the Skull

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Apert Syndrome Is a Congenital Disorder Causing Abnormal Development of the Skull Jennifer Magbitang, OD Salt Lake City Veteran’s Affairs Medical Center, Utah Resident Abstract: Apert syndrome is a congenital disorder causing abnormal development of the skull. Patients with Apert syndrome suffer from keratoconus, strabismus, amblyopia, and proptosis. Vision is significantly improved with contact lenses. Case Report I. Case History 21 year old Caucasian female CC: Blurry vision History of Keratoconus OU, hydrops OS, Nystagmus OU, 2 eye plastic surgeries OU, strabismus surgery OD, strabismus surgery OS x 2 History of Apert Syndrome No medications II. Pertinent Findings Ocular Findings i. VA OD cc 20/40 (corneal rgp) OS sc 20/400 ii. SLE: OD lateral canthal dystopia, inferior cone/thinning, faint corneal haze; OS inferior cone/thinning, descemet’s tear with overlying haze iii. All other ocular findings unremarkable OU iv. Pentacam Ks: OD 54.0D/60.0D OS 78.3D/83.6D Physical: craniosynostosis of skull and syndactylyl of hands III. Differential Diagnosis Keratoconus secondary to Apert Syndrome IV. Diagnosis and Discussion Apert Syndrome is a severe autosomal dominant disorder It is one of the most common craniofacial synostosis syndromes, yet a rare condition with prevalence of 12.5 to 15.5 cases per 1million live births Craniosynostosis is the premature closure of 1 or more cranial sutures during the embryonic period or early childhood. Ocular problems in Apert Syndrome result from the disproportionate growth of the brain and the eye Visual loss is the most severe ocular manifestation resulting from corneal scarring, uncorrected refractive error, amblyopia (secondary to uncorrected refractive error, strabismus, and anisometropia), and optic nerve compromise Other ophthalmic findings include lacrimal dysfunction, structural alteration, absence of extraocular muscles, keratoconus, staphyloma, and cataracts Keratoconus is a non-inflammatory ectatic thinning disorder affecting the cornea, resulting in poor vision secondary to irregular astigmatism V. Treatment and Management Patient presents to her appointment wearing a corneal rgp i. OD Rose K 5.67 (59.50)/-18.50DS/8.5/+1 standard flat edge Fit into scleral lens i. OS Zenlens 6.41 (52.62)/-12.00DS/16.0/Prolate, 5500 Sag, Standard APS, 0.37Tk 1. Vision improved VA sc OS 20/400 to cc 20/125 There are various contact lens options for vision improvement with keratoconic patients. These lenses include rgps, soft and soft toric lenses, piggy back lenses, hydbrid contacts, and sclerals (Rathi et al) VI. Conclusion Apert Syndrome one of the most common craniofacial synostosis syndromes, yet a rare condition Patients should be monitored closely to prevent visual impairment from amblyopia, corneal scarring, and changes of the optic nerve REFERENCES 1. Khong, JJ, et al. Ophthalmic findings in apert’s syndrome after craniofacial surgery. Ophthalmology 2006; 113: 347-352. 2. Khong, JJ, et al. Ophthalmic findings in apert syndrome prior to craniofacial surgery. American Journal of Opthalmology 2006; 142:328-330. 3. Rathi, VM et al. Contact lens in keratoconus. Indian J Ophthalmol. 2013; 61 (8): 410- 415 4. Tien, TM et al. Prevalence and causes of visual impairment in craniosynostotic syndromes. Clinical and Experimental Ophthalmology 2006; 34: 434-440. .
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