Analyzing The Physical, Educational, Social and Visual Needs of a Patient with Crouzon Syndrome: A Case Study Christin DeMoss, OD Abstract A young male with Crouzon syndrome and severe vision loss presents to the low vision clinic. When it comes to addressing the patient’s visual and educational needs, his case is far from ordinary. I. Case History ● 9 year old Caucasian male presents to clinic with his mother and father ● Chief complaint: Longstanding severely reduced vision OS>OD secondary to optic atrophy from Crouzon syndrome ● Ocular hx: Optic atrophy, exotropia, nystagmus, hyperopia, hypertelorism ● Medical hx: Crouzon syndrome, hydrocephalus, infantile cerebral palsy, sleep apnea, acquired synostosis, and anemia ● Medications: acetaminophen, clotrimazole-betamethasone, fluticasone, hydrocortisone, ibuprofen, multivitamins, oxymetazoline nasal, refresh P.M. ● Hx of multiple craniofacial reconstructive surgeries with a recent history of midface distraction osteogenesis surgery x 1 month II. Pertinent findings ● Gross appearance: hypertelorism, small retracted chin, scalp stitches, turribrachycephaly ● VA cc: 1/40M OD, light perception with projection OS ● PRRL (-)APD, poor constriction OU, full motility ● CVF: mild constriction of the superior and temporal field OD, unable OS ● Nystagmus: right beating on right gaze, left beating on left gaze OU ● Hirschberg: asymmetric, OS out ● SLE: unremarkable III. Differential diagnosis ● Crouzon syndrome, Apert syndrome, Muenke syndrome, Pfeiffer syndrome IV. Diagnosis and discussion ● Crouzon syndrome is one of the five most common causes of syndromic craniosynostosis. It is usually caused by an autosomal dominant mutation of the fibroblast growth factor receptor 2 (FGFR2) gene located on chromosome 10. Patients with this syndrome experience premature fusion of one or more skull sutures which can cause numerous craniofacial abnormalities. Hallmarks of this disease include: turribrachycephaly, midface hypoplasia, “beak” nose, shallow orbits, and airway obstruction. ● Ocular characteristics include: visual impairment, amblyopia, optic atrophy, hyperopia, exposure keratopathy, optic disc edema, proptosis, exotropia, hypertelorism, orbital dysplasia, convergence disorders, lagophthalmos, nystagmus, cataracts, ectopia lentis, blue sclera, and glaucoma. ● Other common findings: hearing loss and severe sleep apnea V. Treatment, management ● The treatment and management of a Crouzon syndrome patient involves a multidisciplinary team including orthodontists, ophthalmologists, low vision optometrists, neurologists, plastic surgeons, otolaryngologists, anesthesiologists, psychologists, occupational therapists, and orientation and mobility specialists. ● Early surgical intervention is important in preventing brain growth restriction and increased intracranial pressure. Longstanding increased cranial pressure can lead to papilledema and eventually optic atrophy. Crouzon patients undergo numerous craniofacial reconstruction surgeries, with the first decompression surgery normally occurring before the patient's first birthday. ● The patient in this case was symptomatic for mobility problems due to his reduced visual field and due to his extremely reduced contrast secondary to optic atrophy. The following treatment plan was formulated for this patient: ○ Accommodation recommendations sent to the patient’s school district ○ Full field microscope and telescope ○ Updated distance prescription with Transition lenses and polycarbonate ○ Videomagnifier evaluation ○ Technology evaluation ○ Orientation and mobility services ○ Vision services by a Teacher of the Visually Impaired VI. Conclusion ● There are many opportunities for patients with Crouzon syndrome and related visual loss to undergo physical, educational, social, and visual transformations with the help of a dedicated interdisciplinary team. Taylor, JA, and SP Bartlett. “What's New in Syndromic Craniosynostosis Surgery?” Plastic Reconstruction Surgery, July 2017, www.ncbi.nlm.nih.gov/pubmed/28654610. Balyen, L, et al. “Clinical Characteristics of Crouzon Syndrome.” Oman Journal of Ophthalmology, 2017, www.ncbi.nlm.nih.gov/pmc/articles/PMC5516458/. Bowling, E., and F. Burstein. “Crouzon Syndrome.” Journal of the American Optometric Association, vol. 77, no. 5, May 2006. .