Ann M Holleschau | Search PubMed

PubMed2006

Correlation of grating acuity with letter recognition acuity in children with albinism.

PURPOSE: This study was undertaken to determine whether grating acuity in early childhood can be used as a predictor of letter recognition acuity in patients with albinism. METHODS: In this retrospective study, we compared the binocular grating acuities of children with albinism (30 at age 1, 29 at age 2, and 19 at age 3) to their letter recognition acuity at age 4-6 years. RESULTS: Mean binocular grating acuity was 2.0, 1.9, and 1.5 octaves below age matched norms at ages 1, 2, and 3 years, respectively (P<0.001 at all ages). Mean grating acuity at ages 1, 2, and 3 correlated moderately (r=0.458, 0.502, and 0.471, respectively; all with P<0.05) with mean binocular letter recognition acuity of the same children at ages 4-6. A subgroup analysis of 9 patients followed longitudinally showed strong correlation of binocular grating acuity at ages 1 and 2 with letter acuity (r=0.745, P=0.021; r=0.930, P<0.001, respectively) and moderate correlation at age 3 (r=0.685, P=0.042). In the larger group and the longitudinal subgroup, mean binocular grating acuity at ages 1 and 2 was worse than mean binocular letter recognition acuity at age 4-6 (paired-samples t-test, P<0.001). Mean binocular grating acuity at age 3 in both groups was not significantly different than mean binocular letter recognition acuity at age 4-6 (paired-samples t-test, P=0.790, 0.215, respectively). CONCLUSION: Parents should be informed that vision measured as grating acuity at age 3 provides an estimate of future letter recognition acuity in children with albinism.

Albinism, Ocular↗

PubMed2004

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.

Adolescent↗