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 = 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.

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To provide an explanation for diplopia and the inability to fuse in some patients with macular disease. Methods: We identified 7 patients from our practices who had binocular diplopia concurrent with epiretinal membranes or vitreomacular traction. A review of the medical records of all patients was performed. In addition to complete ophthalmologic and orthoptic examinations, evaluation of aniseikonia using the Awaya New Aniseikonia Tests (Handaya Co Ltd, Tokyo, Japan) was performed on all patients.Results: All patients were referred for troublesome diplopia. Six of the patients had epiretinal membranes and 1 had vitreomacular traction. All 7 patients had aniseikonia, ranging from 5% to 18%. In 5 of the patients the image in the involved eye was larger, and in the other 2 patients it was smaller than in the fellow eye. All patients had concomitant small-angle strabismus and at least initially did not fuse when the deviation was offset with a prism. Response to optical management and retinal surgery was variable.Conclusions: Aniseikonia caused by separation or compression of photoreceptors can be a contributing factor to the existence of diplopia and the inability to fuse in patients with macular disease. Concomitant smallangle strabismus and the inability to fuse with prisms may lead the clinician to the incorrect diagnosis of central disruption of fusion. Surgical intervention does not necessarily improve the aniseikonia.

BackgroundA 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 presentationThis 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.ConclusionAcute 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.