Copyright © 2018 Mutaz B. Habal, MD. Unauthorized reproduction of this article is prohibited. Improvement of Color Vision Following Posterior Cranial Vault Distraction for Crouzon Syndrome Malke Asaad, MD, Samita Goyal, MD, Kristen A. Klement, MD, and Arlen D. Denny, MD Abstract: Crouzon syndrome (CS) is one of the craniosynostosis syndromes that leads to early fusion of cranial sutures and increased intracranial pressure. Intracranial hypertension is a serious compli- cation that may lead to vision loss and cognitive impairment. Early detection and management are necessary to prevent complications. The authors present a patient with CS who underwent posterior cranial vault reconstruction with internal distraction after multiple episodes of headache and papilledema. The patient was unaware of any loss of color vision before the surgery; however, he noted an improvement in his color vision after the surgery. Color vision deficits may be an early sign of intracranial hypertension and finding these deficits using noninvasive testing methods may be an indication for early intervention. Key Words: Color vision deficits, craniosynostosis, Crouzon syndrome, intracranial hypertension, posterior cranial vault distraction (J Craniofac Surg 2018;00: 00–00) C rouzon syndrome (CS) is one of the craniosynostosis syn- dromes that was first described by Octave Crouzon in 1912. It is an autosomal dominant disorder with variable penetrance but can also be due to new mutations. 1–4 Crouzon syndrome is caused by mutations in the fibroblast growth factor receptor-2 gene (FGFR2), which maps to chromosome 10q25-q26. The FGFR2 is an impor- tant gene in the transformation of fibrous matrix between sutures to bony matrix. The FGFR2 suppresses Noggin expression and Noggin is present in patent sutures preventing suture fusion. The mutation in FGFR2 causes increased FGFR2 signaling, increasing the suppression of Noggin, and causing premature suture fusion. Although this particular gene and protein are most commonly implicated in CS, there may be other mutations that lead to the characteristic facies and symptoms seen in these children. Diagnosis is based on clinical suspicion, family history, lack of limb malformations (which are present in most other craniosynos- tosis syndromes), and is confirmed by genetic testing. 1 Crouzon syndrome usually has 3 distinct features: craniosynostosis, maxil- lary hypoplasia, and ocular proptosis. 2 Craniosynostosis mainly involves the coronal and sagittal sutures and can cause increased intracranial pressure (ICP), which may affect the neural structures causing papilledema and optic nerve damage. Patients with CS may also present with other abnormalities like airway malformations causing breathing diffi- culties, obstructive sleep apnea, hearing loss, beaked nose, strabis- mus, exposure keratitis, or conjunctivitis. 1,2 Management of this syndrome is multidisciplinary and includes surgical, ophthalmologic, and orthodontic interventions. Early intervention is critical to prevent increased ICP and achieve the best esthetic results. Options include fronto-orbital advancement, total calvarial reconstruction, cranial distraction osteogenesis, and midface distraction to restore normal shape and skull volume as well as treat airway issues. The purpose of this report is to describe a case of color vision improvement in a CS patient after posterior cranial vault distraction for elevated ICP. The patient did not complain of any vision loss before the surgery but noticed color vision improvement after the surgery. To our knowledge, no other clinical reports exist in the literature regarding color vision improvement independent of vision improvement after normalizing elevated ICP. CLINICAL REPORT Our patient is a 17-year-old male who has CS. He was diagnosed based on clinical examination and DNA testing. He underwent fronto-orbital advancement in 2000 (age 1), cranial vault remodel- ing in 2001 (age 2), and Le Fort III by internal distraction in 2005 (age 6). In 2011 (age 12), he presented with multiple episodes of headache. A 3-dimensional (3D) computed tomography (CT) scan and ophthalmologic examination were ordered. His 3D CT scan showed thumb-printing of the bones of the skull (Fig. 1A), but his ophthalmologic examination showed normal visual acuity, normal intraocular pressure (IOP), normal visual fields, and no evidence of papilledema or vision changes. Color vision was tested in each eye From the Department of Plastic Surgery, Medical College of Wisconsin, Milwaukee, WI. Received April 30, 2017. Accepted for publication November 11, 2017. Address correspondence and reprint requests to Arlen D. Denny, MD, Department of Plastic Surgery, Children’s Hospital of Wisconsin, PO Box 1997, Suite C340, Milwaukee, WI 53201-1997; E-mail: adenny@chw.org; Kristen A. Klement, MD, Medical College of Wisconsin, Hartland, WI; E-mail: kklement@mcw.edu This work was supported by resources of the Department of Plastic Surgery, Medical College of Wisconsin. The authors report no conflicts of interest. Copyright # 2018 by Mutaz B. Habal, MD ISSN: 1049-2275 DOI: 10.1097/SCS.0000000000004353 FIGURE 1. (A) Three-dimensional CT scan of the head with intracranial skull views 1 year prior to intervention. At this time, there were signs of thumb printing but the visual examination was within normal limits. (B) Three- dimensional CT scan of the head with intracranial skull views demonstrating increasing thumb printing. At this time, the patient was presenting with increasing headaches and signs of papilledema. (C) Three-dimensional CT scan of the head after posterior cranial vault distraction. CT ¼ computed tomography. ORIGINAL ARTICLE The Journal of Craniofacial Surgery  Volume 00, Number 00, Month 2018 1