Horizontal Transposition of the Vertical Rectus Muscles to Correct a Head Tilt in 5 Patients With Idiopathic Nystagmus Syndrome.

PURPOSE: Patients with idiopathic nystagmus syndrome often develop an abnormal head position. A horizontal face turn can be treated with the augmented Kestenbaum procedure, while patients with a chin up or chin down position can be treated with surgery on the vertical recti and/or oblique muscles. Although rare, some patients may have a head tilt with no face turn. We report 5 patients who underwent horizontal transposition of the vertical rectus muscles to correct a head tilt. DESIGN: Retrospective case series. METHODS: Five cases from 2 different tertiary referral eye centers and 3 different surgeons were reviewed and analyzed. Surgery for the patients consisted of either a 7-mm or full tendon-width transposition of the vertical rectus muscles of each eye to induce cyclotorsion in the direction of the head tilt. The presenting clinical histories, measurements, and surgical outcomes were reviewed. The primary outcome measure was correction of head tilt. RESULTS: Of 5 patients, 2 had previous horizontal face turns that were corrected with an augmented Kestenbaum procedure and later developed a head tilt, while 3 patients presented primarily with a head tilt. Age at surgery ranged from 5 to 8 years. Initial tilts were measured between 20-45°. Surgery was performed bilaterally except in 1 patient with history of morning glory disc anomaly and therefore transposition surgery was only performed on fixating eye for that patient. Postoperatively, 3 of 5 patients had near complete (0-5°) resolution of their tilt. One patient had a persistent 5-degree head tilt and a small chin up that was nullified with vertical prisms in spectacles. CONCLUSION: Transposition of the vertical rectus to induce cyclotorsion in the direction of the head tilt improves abnormal head titling in patients who have idiopathic nystagmus syndrome. This procedure was safely performed in patients with previous augmented Kestenbaum procedures with no incidence of anterior segment ischemia in our cases.

Acute myopia and angle closure glaucoma from topiramate in a seven-year-old: a case report and review of the literature.

BACKGROUND: A case is reported of acute bilateral myopia and angle closure glaucoma in a 7-year-old patient from topiramate toxicity. This is the second known reported case of topiramate induced acute angle closure glaucoma and third known reported case of topiramate induced acute myopia in a pediatric patient. CASE PRESENTATION: This case presents a 7-year-old who had recently begun topiramate therapy for seizures and headache. She developed painless blurred vision and acute bilateral myopia, which progressed to acute bilateral angle closure glaucoma. After a routine eye exam where myopia was diagnosed, the patient presented to the emergency room with symptoms of acute onset blurry vision, tearing, red eyes, swollen eyelids, and photophobia. The symptoms, myopia, and angle closure resolved with topical and oral intraocular pressure lowering medications, topical cyclopentolate, and discontinuation of topiramate. CONCLUSION: Acute angle closure glaucoma is a well-known side effect of topiramate, but is rarely seen in children. It cautions providers to the potential ophthalmic side effects of commonly used medications in the pediatric population. It highlights the need to keep a broad differential in mind when encountering sudden onset blurry vision in the primary care clinic, the need for careful consideration of side effects when starting topiramate therapy in a child, and the need for parental counseling of side effects.

X-linked high myopia associated with cone dysfunction.

OBJECTIVE: Bornholm eye disease (BED) consists of X-linked high myopia, high cylinder, optic nerve hypoplasia, reduced electroretinographic flicker with abnormal photopic responses, and deuteranopia. The disease maps to chromosome Xq28 and is the first designated high-grade myopia locus (MYP1). We studied a second family from Minnesota with a similar X-linked phenotype, also of Danish descent. All affected males had protanopia instead of deuteranopia. METHODS: X chromosome genotyping, fine-point mapping, and haplotype analysis of the DNA from 22 Minnesota family individuals (8 affected males and 5 carrier females) and 6 members of the original family with BED were performed. Haplotype comparisons and mutation screening of the red-green cone pigment gene array were performed on DNA from both kindreds. RESULTS: Significant maximum logarithm of odds scores of 3.38 and 3.11 at theta = 0.0 were obtained with polymorphic microsatellite markers DXS8106 and DXYS154, respectively, in the Minnesota family. Haplotype analysis defined an interval of 34.4 cM at chromosome Xq27.3-Xq28. Affected males had a red-green pigment hybrid gene consistent with protanopia. We genotyped Xq27-28 polymorphic markers of the family with BED, and narrowed the critical interval to 6.8 cM. The haplotypes of the affected individuals were different from those of the Minnesota pedigree. Bornholm eye disease-affected individuals showed the presence of a green-red hybrid gene consistent with deuteranopia. CONCLUSIONS: Because of the close geographic origin of the 2 families, we expected affected individuals to have the same haplotype in the vicinity of the same mutation. Mapping studies, however, suggested independent mutations of the same gene. The red-green and green-red hybrid genes are common X-linked color vision defects, and thus are unrelated to the high myopia and other eye abnormalities in these 2 families. CLINICAL RELEVANCE: X-linked high myopia with possible cone dysfunction has been mapped to chromosome Xq28 with intervals of 34.4 and 6.8 centimorgan for 2 families of Danish origin.