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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A novel putative disease locus for AD high-grade myopia has been identified and provides additional support for genetic heterogeneity for this disorder.

Objective-To compare contact lenses and intraocular lenses (IOLs) for the optical correction of unilateral aphakia during infancy.Methods-In a randomized, multicenter (12 sites) clinical trial, 114 infants with a unilateral congenital cataract were assigned to undergo cataract surgery either with or without IOL implantation. Children randomized to IOL treatment had their residual refractive error corrected with spectacles. Children randomized to no IOL had their aphakia treated with a contact lens Main Outcome Measures-Grating acuity at 12 months of age and HOTV visual acuity at 4.5 years of age Results-Enrollment began in December 2004 and was completed in January 2009. The median age at the time of cataract surgery was 1.8 months. Fifty patients were 4-6 weeks of age at the time of enrollment, 32 patients were between 49 days and 3 months of age and the remaining 32 children were 3 to 7 months of age. Fifty-seven children were randomized to each treatment group with either IOL placement or aphakia. The eyes with cataracts had shorter axial lengths and steeper corneas on average than the fellow eyes.Conclusions-The optimal optical treatment of aphakia in infants is unknown. IATS was designed to provide empirical evidence whether optical treatment with an IOL or a contact lens following unilateral cataract surgery during infancy is associated with a better visual outcome.