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Abstract Background To determine whether previously reported loci predisposing to nonsyndromic high myopia show linkage to common myopia in pedigrees from two ethnic groups: Ashkenazi Jewish and Amish. We hypothesized that these high myopia loci might exhibit allelic heterogeneity and be responsible for moderate /mild or common myopia. Methods Cycloplegic and manifest refraction were performed on 38 Jewish and 40 Amish families. Individuals with at least -1.00 D in each meridian of both eyes were classified as myopic. Genomic DNA was genotyped with 12 markers on chromosomes 12q21-23 and 18p11.3. Parametric and nonparametric linkage analyses were conducted to determine whether susceptibility alleles at these loci are important in families with less severe, clinical forms of myopia. Results There was no strong evidence of linkage of common myopia to these candidate regions: all two-point and multipoint heterogeneity LOD scores were < 1.0 and non-parametric linkage p-values were > 0.01. However, one Amish family showed slight evidence of linkage (LOD>1.0) on 12q; another 3 Amish families each gave LOD >1.0 on 18p; and 3 Jewish families each gave LOD >1.0 on 12q. Conclusions Significant evidence of linkage (LOD> 3) of myopia was not found on chromosome 18p or 12q loci in these families. These results suggest that these loci do not play a major role in the causation of common myopia in our families studied.

Abstract: This review summarizes clinically relevant outcomes from the Vision in Preschoolers (VIP) and VIP-Hyperopia in Preschoolers (VIP-HIP) studies. In VIP, refraction tests (retinoscopy, Retinomax, SureSight) and Lea Symbols Visual Acuity performed best in identifying children with vision disorders. For lay screeners, Lea Symbols single, crowded visual acuity (VA) testing (VIP, 5-foot) was significantly better than linear, crowded testing (10-foot). Children unable to perform the tests (<2%) were more likely to have vision disorders than children who passed and should be referred for vision evaluation. Among racial/ethnic groups, the prevalence of amblyopia and strabismus was similar while that of hyperopia, astigmatism, and anisometropia varied. The presence of strabismus and significant refractive errors were risk factors for unilateral amblyopia, while bilateral astigmatism and bilateral hyperopia were risk factors for bilateral amblyopia. A greater risk of astigmatism was associated with Hispanic, African American, and Asian race, and myopic and hyperopic refractive error. The presence and severity of hyperopia were associated with higher rates of amblyopia, strabismus, and other associated refractive error. In the VIP-HIP study, compared to emmetropes, meaningful deficits in early literacy were observed in uncorrected hyperopic 4- and 5-year-olds [≥+4.0 diopter (D) or ≥+3.0 D to ≤+6.0 D associated with reduced near visual function (near VA 20/40 or worse; stereoacuity worse than 240")]. Hyperopia with reduced near visual function also was associated with attention deficits. Compared to emmetropic children, VA (distance, near), accommodative accuracy, and stereoacuity were significantly reduced in moderate hyperopes, with the greatest risk in those with higher hyperopia. Increasing hyperopia was associated with decreasing visual function., Competing Interests: The authors have no conflicts of interest to declare., (Copyright © 2022 Asia-Pacific Academy of Ophthalmology. Published by Wolters Kluwer Health, Inc. on behalf of the Asia-Pacific Academy of Ophthalmology.)

Significance: Among 4- and 5-year-old children, deficits in measures of attention, visual-motor integration (VMI) and visual perception (VP) are associated with moderate, uncorrected hyperopia (3 to 6 diopters [D]) accompanied by reduced near visual function (near visual acuity worse than 20/40 or stereoacuity worse than 240 seconds of arc)., Purpose: To compare attention, visual motor, and visual perceptual skills in uncorrected hyperopes and emmetropes attending preschool or kindergarten and evaluate their associations with visual function., Methods: Participants were 4 and 5 years of age with either hyperopia (≥3 to ≤6 D, astigmatism ≤1.5 D, anisometropia ≤1 D) or emmetropia (hyperopia ≤1 D; astigmatism, anisometropia, and myopia each <1 D), without amblyopia or strabismus. Examiners masked to refractive status administered tests of attention (sustained, receptive, and expressive), VMI, and VP. Binocular visual acuity, stereoacuity, and accommodative accuracy were also assessed at near. Analyses were adjusted for age, sex, race/ethnicity, and parent's/caregiver's education., Results: Two hundred forty-four hyperopes (mean, +3.8 ± [SD] 0.8 D) and 248 emmetropes (+0.5 ± 0.5 D) completed testing. Mean sustained attention score was worse in hyperopes compared with emmetropes (mean difference, -4.1; P < .001 for 3 to 6 D). Mean Receptive Attention score was worse in 4 to 6 D hyperopes compared with emmetropes (by -2.6, P = .01). Hyperopes with reduced near visual acuity (20/40 or worse) had worse scores than emmetropes (-6.4, P < .001 for sustained attention; -3.0, P = .004 for Receptive Attention; -0.7, P = .006 for VMI; -1.3, P = .008 for VP). Hyperopes with stereoacuity of 240 seconds of arc or worse scored significantly worse than emmetropes (-6.7, P < .001 for sustained attention; -3.4, P = .03 for Expressive Attention; -2.2, P = .03 for Receptive Attention; -0.7, P = .01 for VMI; -1.7, P < .001 for VP). Overall, hyperopes with better near visual function generally performed similarly to emmetropes., Conclusions: Moderately hyperopic children were found to have deficits in measures of attention. Hyperopic children with reduced near visual function also had lower scores on VMI and VP than emmetropic children.

Purpose: To evaluate the agreement of cycloplegic refractive error measures between the Grand Seiko and Retinomax autorefractors in 4- and 5-year-old children., Methods: Cycloplegic refractive error of children was measured using the Grand Seiko and Retinomax during a comprehensive eye examination. Accommodative error was measured using the Grand Seiko. The differences in sphere, cylinder, spherical equivalent (SE) and intereye vector dioptric distance (VDD) between autorefractors were assessed using the Bland-Altman plot and 95% limits of agreement (95% LoA)., Results: A total of 702 examinations were included. Compared to the Retinomax, the Grand Seiko provided statistically significantly larger values of sphere (mean difference, 0.34 D; 95% LoA, -0.46 to 1.14 D), SE (mean, 0.25 D; 95% LoA, -0.55 to 1.05 D), VDD (mean, 0.19 D; 95% LoA, -0.67 to 1.05 D), and more cylinder (mean, -0.18 D; 95% LoA, -0.91 to 0.55 D). The Grand Seiko measured ≥0.5 D than Retinomax in 43.1% of eyes for sphere and 29.8% of eyes for SE. In multivariate analysis, eyes with SE of >4 D (based on the average of two autorefractors) had larger differences in sphere (mean, 0.66 D vs 0.35 D; P < 0.0001) and SE (0.57 D vs 0.26 D; P < 0.0001) than eyes with SE of ≤4 D., Conclusions: Under cycloplegia, the Grand Seiko provided higher measures of sphere, more cylinder, and higher SE than the Retinomax. Higher refractive error was associated with larger differences in sphere and SE between the Grand Seiko and Retinomax., (Copyright © 2017 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.)

Purpose: To compare early literacy of 4- and 5-year-old uncorrected hyperopic children with that of emmetropic children., Design: Cross-sectional., Participants: Children attending preschool or kindergarten who had not previously worn refractive correction., Methods: Cycloplegic refraction was used to identify hyperopia (≥3.0 to ≤6.0 diopters [D] in most hyperopic meridian of at least 1 eye, astigmatism ≤1.5 D, anisometropia ≤1.0 D) or emmetropia (hyperopia ≤1.0 D; astigmatism, anisometropia, and myopia <1.0 D). Threshold visual acuity (VA) and cover testing ruled out amblyopia or strabismus. Accommodative response, binocular near VA, and near stereoacuity were measured., Main Outcome Measures: Trained examiners administered the Test of Preschool Early Literacy (TOPEL), composed of Print Knowledge, Definitional Vocabulary, and Phonological Awareness subtests., Results: A total of 492 children (244 hyperopes and 248 emmetropes) participated (mean age, 58 months; mean ± standard deviation of the most hyperopic meridian, +3.78±0.81 D in hyperopes and +0.51±0.48 D in emmetropes). After adjustment for age, race/ethnicity, and parent/caregiver's education, the mean difference between hyperopes and emmetropes was -4.3 (P = 0.01) for TOPEL overall, -2.4 (P = 0.007) for Print Knowledge, -1.6 (P = 0.07) for Definitional Vocabulary, and -0.3 (P = 0.39) for Phonological Awareness. Greater deficits in TOPEL scores were observed in hyperopic children with ≥4.0 D than in emmetropes (-6.8, P = 0.01 for total score; -4.0, P = 0.003 for Print Knowledge). The largest deficits in TOPEL scores were observed in hyperopic children with binocular near VA of 20/40 or worse (-8.5, P = 0.002 for total score; -4.5, P = 0.001 for Print Knowledge; -3.1, P = 0.04 for Definitional Vocabulary) or near stereoacuity of 240 seconds of arc or worse (-8.6, P < 0.001 for total score; -5.3, P < 0.001 for Print Knowledge) compared with emmetropic children., Conclusions: Uncorrected hyperopia ≥4.0 D or hyperopia ≥3.0 to ≤6.0 D associated with reduced binocular near VA (20/40 or worse) or reduced near stereoacuity (240 seconds of arc or worse) in 4- and 5-year-old children enrolled in preschool or kindergarten is associated with significantly worse performance on a test of early literacy., (Copyright © 2016 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.)

Purpose: This study investigated the relationship between uncorrected astigmatism and early academic readiness in at-risk preschool-aged children., Methods: A vision screening and academic records review were performed on 122 three- to five-year-old children enrolled in the Philadelphia Head Start program. Vision screening results were related to two measures of early academic readiness, the teacher-reported Work Sampling System (WSS) and the parent-reported Ages and Stages Questionnaire (ASQ). Both measures assess multiple developmental and skill domains thought to be related to academic readiness. Children with astigmatism (defined as >|-0.25| in either eye) were compared with children who had no astigmatism. Associations between astigmatism and specific subscales of the WSS and ASQ were examined using parametric and nonparametric bivariate statistics and regression analyses controlling for age and spherical refractive error., Results: Presence of astigmatism was negatively associated with multiple domains of academic readiness. Children with astigmatism had significantly lower mean scores on Personal and Social Development, Language and Literacy, and Physical Development domains of the WSS, and on Personal/Social, Communication, and Fine Motor domains of the ASQ. These differences between children with astigmatism and children with no astigmatism persisted after statistically adjusting for age and magnitude of spherical refractive error. Nonparametric tests corroborated these findings for the Language and Literacy and Physical Health and Development domains of the WSS and the Communication domain of the ASQ., Conclusions: The presence of astigmatism detected in a screening setting was associated with a pattern of reduced academic readiness in multiple developmental and educational domains among at-risk preschool-aged children. This study may help to establish the role of early vision screenings, comprehensive vision examinations, and the need for refractive correction to improve academic success in preschool children.

Purpose: To determine demographic and refractive risk factors for astigmatism in the Vision in Preschoolers Study., Methods: Three- to 5-year-old Head Start preschoolers (N = 4040) from five clinical centers underwent comprehensive eye examinations by study-certified optometrists and ophthalmologists, including monocular visual acuity testing, cover testing, and cycloplegic retinoscopy. Astigmatism was defined as the presence of greater than or equal to +1.5 diopters (D) cylinder in either eye, measured with cycloplegic refraction. The associations of risk factors with astigmatism were evaluated using the odds ratio (OR) and its 95% confidence interval (CI) from logistic regression models., Results: Among 4040 Vision in Preschoolers Study participants overrepresenting children with vision disorders, 687 (17%) had astigmatism, and most (83.8%) had with-the-rule astigmatism. In multivariate analyses, African American (OR, 1.65; 95% CI, 1.22 to 2.24), Hispanic (OR, 2.25; 95% CI, 1.62 to 3.12), and Asian (OR, 1.76; 95% CI, 1.06 to 2.93) children were more likely to have astigmatism than non-Hispanic white children, whereas American Indian children were less likely to have astigmatism than Hispanic, African American, and Asian children (p < 0.0001). Refractive error was associated with astigmatism in a nonlinear manner, with an OR of 4.50 (95% CI, 3.00 to 6.76) for myopia (≤-1.0 D in spherical equivalent) and 1.55 (95% CI, 1.29 to 1.86) for hyperopia (≥+2.0 D) when compared with children without refractive error (>-1.0 D, <+2.0 D). There was a trend of an increasing percentage of astigmatism among older children (linear trend p = 0.06). The analysis for risk factors of with-the-rule astigmatism provided similar results., Conclusions: Among Head Start preschoolers, Hispanic, African American, and Asian race as well as myopic and hyperopic refractive error were associated with an increased risk of astigmatism, consistent with findings from the population-based Multi-ethnic Pediatric Eye Disease Study and the Baltimore Pediatric Eye Disease Study. American Indian children had lower risk of astigmatism.

Objective: To evaluate risk factors for unilateral amblyopia and for bilateral amblyopia in the Vision in Preschoolers (VIP) study., Design: Multicenter, cross-sectional study., Participants: Three- to 5-year-old Head Start preschoolers from 5 clinical centers, overrepresenting children with vision disorders., Methods: All children underwent comprehensive eye examinations, including threshold visual acuity (VA), cover testing, and cycloplegic retinoscopy, performed by VIP-certified optometrists and ophthalmologists who were experienced in providing care to children. Monocular threshold VA was tested using a single-surround HOTV letter protocol without correction, and retested with full cycloplegic correction when retest criteria were met. Unilateral amblyopia was defined as an interocular difference in best-corrected VA of 2 lines or more. Bilateral amblyopia was defined as best-corrected VA in each eye worse than 20/50 for 3-year-olds and worse than 20/40 for 4- to 5-year-olds., Main Outcome Measures: Risk of amblyopia was summarized by the odds ratios and their 95% confidence intervals estimated from logistic regression models., Results: In this enriched sample of Head Start children (n = 3869), 296 children (7.7%) had unilateral amblyopia, and 144 children (3.7%) had bilateral amblyopia. Presence of strabismus (P<0.0001) and greater magnitude of significant refractive errors (myopia, hyperopia, astigmatism, and anisometropia; P<0.00001 for each) were associated independently with an increased risk of unilateral amblyopia. Presence of strabismus, hyperopia of 2.0 diopters (D) or more, astigmatism of 1.0 D or more, or anisometropia of 0.5 D or more were present in 91% of children with unilateral amblyopia. Greater magnitude of astigmatism (P<0.0001) and bilateral hyperopia (P<0.0001) were associated independently with increased risk of bilateral amblyopia. Bilateral hyperopia of 3.0 D or more or astigmatism of 1.0 D or more were present in 76% of children with bilateral amblyopia., Conclusions: Strabismus and significant refractive errors were risk factors for unilateral amblyopia. Bilateral astigmatism and bilateral hyperopia were risk factors for bilateral amblyopia. Despite differences in selection of the study population, these results validated the findings from the Multi-Ethnic Pediatric Eye Disease Study and Baltimore Pediatric Eye Disease Study., (Copyright © 2014 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.)

Objective: To compare the prevalence of amblyopia, strabismus, and significant refractive error among African-American, American Indian, Asian, Hispanic, and non-Hispanic white preschoolers in the Vision In Preschoolers study., Design: Multicenter, cross-sectional study., Participants: Three- to 5-year old preschoolers (n=4040) in Head Start from 5 geographically disparate areas of the United States., Methods: All children who failed the mandatory Head Start screening and a sample of those who passed were enrolled. Study-certified pediatric optometrists and ophthalmologists performed comprehensive eye examinations including monocular distance visual acuity (VA), cover testing, and cycloplegic retinoscopy. Examination results were used to classify vision disorders, including amblyopia, strabismus, significant refractive errors, and unexplained reduced VA. Sampling weights were used to calculate prevalence rates, confidence intervals, and statistical tests for differences., Main Outcome Measures: Prevalence rates in each racial/ethnic group., Results: Overall, 86.5% of children invited to participate were examined, including 2072 African-American, 343 American Indian (323 from Oklahoma), 145 Asian, 796 Hispanic, and 481 non-Hispanic white children. The prevalence of any vision disorder was 21.4% and was similar across groups (P=0.40), ranging from 17.9% (American Indian) to 23.3% (Hispanic). Prevalence of amblyopia was similar among all groups (P=0.07), ranging from 3.0% (Asian) to 5.4% (non-Hispanic white). Prevalence of strabismus also was similar (P=0.12), ranging from 1.0% (Asian) to 4.6% (non-Hispanic white). Prevalence of hyperopia >3.25 diopter (D) varied (P=0.007), with the lowest rate in Asians (5.5%) and highest in non-Hispanic whites (11.9%). Prevalence of anisometropia varied (P=0.009), with the lowest rate in Asians (2.7%) and highest in Hispanics (7.1%). Myopia >2.00 D was relatively uncommon (<2.0%) in all groups with the lowest rate in American Indians (0.2%) and highest rate in Asians (1.9%). Prevalence of astigmatism >1.50 D varied (P=0.01), with the lowest rate among American Indians (4.3%) and highest among Hispanics (11.1%)., Conclusions: Among Head Start preschool children, the prevalence of amblyopia and strabismus was similar among 5 racial/ethnic groups. Prevalence of significant refractive errors, specifically hyperopia, astigmatism, and anisometropia, varied by group, with the highest rate of hyperopia in non-Hispanic whites, and the highest rates of astigmatism and anisometropia in Hispanics., (Copyright © 2014 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.)

Purpose: To determine the intertester agreement of refractive error measurements between lay and nurse screeners using the Retinomax Autorefractor and the SureSight Vision Screener., Methods: Trained lay and nurse screeners measured refractive error in 1452 preschoolers (3 to 5 years old) using the Retinomax and the SureSight in a random order for screeners and instruments. Intertester agreement between lay and nurse screeners was assessed for sphere, cylinder, and spherical equivalent (SE) using the mean difference and the 95% limits of agreement. The mean intertester difference (lay minus nurse) was compared between groups defined based on the child's age, cycloplegic refractive error, and the reading's confidence number using analysis of variance. The limits of agreement were compared between groups using the Brown-Forsythe test. Intereye correlation was accounted for in all analyses., Results: The mean intertester differences (95% limits of agreement) were -0.04 (-1.63, 1.54) diopter (D) sphere, 0.00 (-0.52, 0.51) D cylinder, and -0.04 (1.65, 1.56) D SE for the Retinomax and 0.05 (-1.48, 1.58) D sphere, 0.01 (-0.58, 0.60) D cylinder, and 0.06 (-1.45, 1.57) D SE for the SureSight. For either instrument, the mean intertester differences in sphere and SE did not differ by the child's age, cycloplegic refractive error, or the reading's confidence number. However, for both instruments, the limits of agreement were wider when eyes had significant refractive error or the reading's confidence number was below the manufacturer's recommended value., Conclusions: Among Head Start preschool children, trained lay and nurse screeners agree well in measuring refractive error using the Retinomax or the SureSight. Both instruments had similar intertester agreement in refractive error measurements independent of the child's age. Significant refractive error and a reading with low confidence number were associated with worse intertester agreement.

Purpose: To evaluate the relationship of anisometropia with unilateral amblyopia, interocular acuity difference (IAD), and stereoacuity among Head Start preschoolers using both clinical notation and vector notation analyses., Design: Multicenter, cross-sectional study., Participants: Three- to 5-year-old participants in the Vision in Preschoolers (VIP) study (n = 4040)., Methods: Secondary analysis of VIP data from participants who underwent comprehensive eye examinations, including monocular visual acuity testing, stereoacuity testing, and cycloplegic refraction. Visual acuity was retested with full cycloplegic correction when retest criteria were met. Unilateral amblyopia was defined as IAD of 2 lines or more in logarithm of the minimum angle of resolution (logMAR) units. Anisometropia was defined as a 0.25-diopter (D) or more difference in spherical equivalent (SE) or in cylinder power and 2 approaches using power vector notation. The percentage with unilateral amblyopia, mean IAD, and mean stereoacuity were compared between anisometropic and isometropic children., Main Outcomes Measures: The percentage with unilateral amblyopia, mean IAD, and mean stereoacuity., Results: Compared with isometropic children, anisometropic children had a higher percentage of unilateral amblyopia (8% vs. 2%), larger mean IAD (0.07 vs. 0.05 logMAR), and worse mean stereoacuity (145 vs. 117 arc sec; all P<0.0001). Larger amounts of anisometropia were associated with higher percentages of unilateral amblyopia, larger IAD, and worse stereoacuity (P<0.001 for trend). The percentage of unilateral amblyopia increased significantly with SE anisometropia of more than 0.5 D, cylindrical anisometropia of more than 0.25 D, vertical and horizontal meridian (J0) or oblique meridian (J45) of more than 0.125 D, or vector dioptric distance of more than 0.35 D (all P<0.001). Vector dioptric distance had greater ability to detect unilateral amblyopia than cylinder, SE, J0, or J45 (P<0.001)., Conclusions: The presence and amount of anisometropia were associated with the presence of unilateral amblyopia, larger IAD, and worse stereoacuity. The threshold level of anisometropia at which unilateral amblyopia became significant was lower than current guidelines. Vector dioptric distance is more accurate than spherical equivalent anisometropia or cylindrical anisometropia in identifying preschoolers with unilateral amblyopia., (Copyright © 2013 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.)

Purpose: Genomewide linkage scans were performed in Caucasian (CAUC) and Old Order Amish (OOA) families to identify genomic regions containing genes responsible for refractive error control. We also performed a meta-analysis by combining these results with our previous linkage results from Ashkenazi Jewish (ASHK) and African American (AFRAM) families., Methods: Two hundred seventy-one CAUC and 411 OOA participants (36 and 61 families, respectively) were recruited to participate in the Myopia Family Study. Recruitment criteria were designed to enrich the sample for multiplex myopic families. Genomewide, model-free, multipoint linkage analyses were performed separately for each population by using >370 microsatellite markers. Empirical significance levels were determined via gene-dropping simulations. A meta-analysis was performed by combining linkage results from the CAUC, OOA, AFRAM, and ASHK samples, and results were compared to previously reported loci for myopia and refraction., Results: Suggestive evidence of linkage was found at 12q24 (LOD = 4.583, P = 0.00037) and 4q21 (LOD = 2.72, P = 0.0028) in the CAUC sample and at 5qter (LOD = 3.271, P = 0.0014) in the OOA. Meta-analysis linkage results were largely driven by population-specific signals from ASHK and AFRAM families. The meta-analysis showed suggestive evidence of linkage to 4q21-22 (meta-P = 0.00214) adjacent to the previously reported MYP9 and MYP11 loci., Conclusions: The results showed suggestive evidence of linkage of ocular refraction to 12q24 and 4q21 in CAUC and to 5qter in OOA families. The meta-analysis supports the view that several genes play a role in refractive development across populations. In MFS families, four broad genomic regions (on 1p, 4q, 7p, and 12q) most likely contain genes that influence ocular refraction.

Purpose: To identify myopia susceptibility genes influencing common myopia in 94 African-American and 36 White families., Design: A prospective study of families with myopia consisting of a minimum of two individuals affected with myopia., Methods: Extended families consisting of at least two siblings affected with myopia were ascertained. A genome-wide linkage scan using 387 markers was conducted by the Center for Inherited Disease Research. Linkage analyses were conducted with parametric and nonparametric methods. Model-free linkage analysis was performed maximizing over penetrance and over dominance (that is, fitting a wide range of both dominant and recessive models)., Results: Under the model-free analysis, the maximum two point heterogeneity logarithm of the odds score (MALOD) was 2.87 at D6S1009 in the White cohort and the maximum multipoint MALOD was 2.42 at D12S373-D12S1042 in the same cohort. The nonparametric linkage (NPL) maximum multipoint at D6S1035 had a P value of .005. An overall multipoint NPL score was obtained by combining NPL scores from both populations. The highest combined NPL score was observed at D20S478 with a significant P value of .008. Suggestive evidence of linkage in the White cohort mapped to a previously mapped locus on chromosome 11 at D11S1981 (NPL = 2.14; P = .02)., Conclusions: Suggestive evidence of linkage to myopia in both African Americans and Whites was seen on chromosome 20 and became more significant when the scores were combined for both groups. The locus on chromosome 11 independently confirms a report by Hammond and associates mapping a myopia quantitative trait locus to this region.

Refractive development is influenced by environmental and genetic factors. Genetic studies have identified several regions of linkage to ocular refraction, but none have been carried out in African-derived populations. We performed quantitative trait locus linkage analyses in African-American (AA) families to identify genomic regions responsible for refraction. We recruited 493 AA individuals in 96 families to participate in the Myopia Family Study. Genotyping of 387 microsatellite markers was performed on 398 participants. The mean refraction among genotyped individuals was -2.87 D (SD=3.58) and myopia of at least 1 D was present in 267 (68%) participants. Multipoint, regression-based, linkage analyses were carried out on a logarithmic transformation of ocular refraction using the statistical package MERLIN-REGRESS. Empirical significance levels were determined via 4,898 whole-genome gene-dropping simulations. Linkage analyses were repeated after clustering families into two subgroups based on admixture proportions as determined by the software package STRUCTURE. Genomewide significant linkage was seen at 47 cM on chromosome 7 (logarithm of the odds ratio (LOD)=5.87, P=0.00005). In addition, three regions on chromosomes 2p, 3p and 10p showed suggestive evidence of linkage (LOD>2, P<0.005) for ocular refraction. We mapped the first quantitative trait locus for ocular refraction in an AA population to chr.7p15. Two previous studies in European-derived families reported some evidence of linkage to a nearby region, suggesting that this region may contain polymorphisms that mediate refraction across populations. The genomic region under our linkage peak spans approximately 17 Mb and contains approximately 170 genes. Further refinement of this region will be pursued in future studies.

Purpose: A genome-wide scan was previously reported for myopia in Ashkenazi Jews. In order to confirm the previous linkage peaks, a collection of DNA samples from 19 new Ashkenazi Jewish families were tested for linkage in a genome wide scan., Methods: Families were ascertained from an Orthodox Ashkenazi Jewish community through mailings. Myopia was defined as equal to or greater than -1 diopter in both meridians in both eyes. The genome wide scan used markers from a modified Cooperative Human Linkage Center version 9 (402 markers). Parametric two-point linkage was calculated with FASTLINK while multipoint linkage was calculated with GENEHUNTER., Results: The results for the 19 families demonstrated several regions of suggestive linkage on chromosomes 7, 1, 17, and 22. A combined analysis of the 19 families and 44 previously reported families demonstrated an increase in the LOD score to 4.73 for the chromosome 22 locus., Conclusions: Multiple chromosomal regions have exhibited some evidence of linkage to a myopia susceptibility gene in this Ashkenazi Jewish population. The strongest evidence of linkage to such a susceptibility gene in these data is on chromosome 22.

Unlabelled: The development of refractive error is mediated by both environmental and genetic factors. We performed regression-based quantitative trait locus (QTL) linkage analysis on Ashkenazi Jewish families to identify regions in the genome responsible for ocular refraction. We measured refractive error on individuals in 49 multi-generational American families of Ashkenazi Jewish descent. The average family size was 11.1 individuals and was composed of 2.7 generations. Recruitment criteria specified that each family contain at least two myopic members. The mean spherical equivalent refractive error in the sample was -3.46D (SD=3.29) and 87% of individuals were myopic. Microsatellite genotyping with 387 markers was performed on 411 individuals. We performed multipoint regression-based linkage analysis for ocular refraction and a log transformation of the trait using the statistical package Merlin-Regress. Empirical genomewide significance levels were estimated through gene-dropping simulations by generating random genotypes at each of the 387 markers in 200 replicates of our pedigrees. Maximum LOD scores of 9.5 for ocular refraction and 8.7 for log-transformed refraction (LTR) were observed at 49.1 cM on chromosome 1p36 between markers D1S552 and D1S1622. The empirical genomewide significance levels were P=0.065 for ocular refraction and P<0.005 for LTR, providing strong evidence for linkage of refraction to this locus. The inter-marker region containing the peak spans 11 Mb and contains approximately 189 genes., Conclusion: We found genomewide significant evidence for linkage of refractive error to a novel QTL on chromosome 1p36 in an Ashkenazi Jewish population.

Purpose: To compare the sensitivity of 11 preschool vision screening tests administered by licensed eye care professionals for the detection of the 4 Vision in Preschoolers (VIP)-targeted vision disorders when specificity is 94%., Methods: This study consisted of a sample (n = 2588) of 3- to 5-year-old children enrolled in Head Start programs, 57% of whom had failed an initial Head Start vision screening. Screening results from 11 tests were compared with results from a standardized comprehensive eye examination that was used to classify children with respect to the four VIP-targeted vision disorders: amblyopia, strabismus, significant refractive error, and unexplained reduced visual acuity (VA). With overall specificity set to 94%, we calculated the sensitivity for the detection of each targeted vision disorder., Results: With the overall specificity set to 94%, the most accurate tests for detection of amblyopia were noncycloplegic retinoscopy (NCR) (88% sensitivity), the SureSight Vision Screener (80%), and the Retinomax Autorefractor (78%). For detection of strabismus, the most accurate tests were the MTI Photoscreener (65%), the cover-uncover test (60%), the Stereo Smile II stereoacuity test (58%), the SureSight Vision Screener (54%), and the Retinomax Autorefractor (54% in year 1, 53% in year 2). The most accurate tests for detection of significant refractive error were NCR (74%), the Retinomax Autorefractor (66%), the SureSight Vision Screener (63%), and the Lea Symbols VA test (58%). For detection of reduced VA, the most accurate tests were the Lea Symbols Distance VA test (48%), the Retinomax Autorefractor (39%), and NCR (38%)., Conclusions: Similar to the previously reported results at 90% specificity, the screening tests vary widely in sensitivity with specificity set at 94%. The rankings of the sensitivities for detection of the 4 VIP-targeted vision disorders are similar to those with specificity set to 90%.

Mild/moderate (common) myopia is a very common disorder, with both genetic and environmental influences. The environmental factors are related to near work and can be measured. There are no known genetic loci for common myopia. Our goal is to find evidence for a myopia susceptibility gene causing common myopia. Cycloplegic and manifest refraction were performed on 44 large American families of Ashkenazi Jewish descent, each with at least two affected siblings. Individuals with at least -1.00 diopter or lower in each meridian of both eyes were classified as myopic. Microsatellite genotyping with 387 markers was performed by the Center for Inherited Disease Research. Linkage analyses were conducted with parametric and nonparametric methods by use of 12 different penetrance models. The family-based association test was used for an association scan. A maximum multipoint parametric heterogeneity LOD (HLOD) score of 3.54 was observed at marker D22S685, and nonparametric linkage analyses gave consistent results, with a P value of.0002 at this marker. The parametric multipoint HLOD scores exceeded 3.0 for a 4-cM interval, and significant evidence of genetic heterogeneity was observed. This genomewide scan is the first step toward identifying a gene on chromosome 22 with an influence on common myopia. At present, we are following up our linkage results on chromosome 22 with a dense map of >1,500 single-nucleotide-polymorphism markers for fine mapping and association analyses. Identification of a susceptibility locus in this region may eventually lead to a better understanding of gene-environment interactions in the causation of this complex trait.

Background: To determine whether previously reported loci predisposing to nonsyndromic high myopia show linkage to common myopia in pedigrees from two ethnic groups: Ashkenazi Jewish and Amish. We hypothesized that these high myopia loci might exhibit allelic heterogeneity and be responsible for moderate /mild or common myopia., Methods: Cycloplegic and manifest refraction were performed on 38 Jewish and 40 Amish families. Individuals with at least -1.00 D in each meridian of both eyes were classified as myopic. Genomic DNA was genotyped with 12 markers on chromosomes 12q21-23 and 18p11.3. Parametric and nonparametric linkage analyses were conducted to determine whether susceptibility alleles at these loci are important in families with less severe, clinical forms of myopia., Results: There was no strong evidence of linkage of common myopia to these candidate regions: all two-point and multipoint heterogeneity LOD scores were < 1.0 and non-parametric linkage p-values were > 0.01. However, one Amish family showed slight evidence of linkage (LOD>1.0) on 12q; another 3 Amish families each gave LOD >1.0 on 18p; and 3 Jewish families each gave LOD >1.0 on 12q., Conclusions: Significant evidence of linkage (LOD> 3) of myopia was not found on chromosome 18p or 12q loci in these families. These results suggest that these loci do not play a major role in the causation of common myopia in our families studied.

Purpose: To compare 11 preschool vision screening tests administered by licensed eye care professionals (LEPs; optometrists and pediatric ophthalmologists)., Design: Multicenter, cross-sectional study., Participants: A sample (N = 2588) of 3- to 5-year-old children enrolled in Head Start was selected to over-represent children with vision problems., Methods: Certified LEPs administered 11 commonly used or commercially available screening tests. Results from a standardized comprehensive eye examination were used to classify children with respect to 4 targeted conditions: amblyopia, strabismus, significant refractive error, and unexplained reduced visual acuity (VA)., Main Outcome Measures: Sensitivity for detecting children with > or =1 targeted conditions at selected levels of specificity was the primary outcome measure. Sensitivity also was calculated for detecting conditions grouped into 3 levels of importance., Results: At 90% specificity, sensitivities of noncycloplegic retinoscopy (NCR) (64%), the Retinomax Autorefractor (63%), SureSight Vision Screener (63%), and Lea Symbols test (61%) were similar. Sensitivities of the Power Refractor II (54%) and HOTV VA test (54%) were similar to each other. Sensitivities of the Random Dot E stereoacuity (42%) and Stereo Smile II (44%) tests were similar to each other and lower (P<0.0001) than the sensitivities of NCR, the 2 autorefractors, and the Lea Symbols test. The cover-uncover test had very low sensitivity (16%) but very high specificity (98%). Sensitivity for conditions considered the most important to detect was 80% to 90% for the 2 autorefractors and NCR. Central interpretations for the MTI and iScreen photoscreeners each yielded 94% specificity and 37% sensitivity. At 94% specificity, the sensitivities were significantly better for NCR, the 2 autorefractors, and the Lea Symbols VA test than for the 2 photoscreeners for detecting > or =1 targeted conditions and for detecting the most important conditions., Conclusions: Screening tests administered by LEPs vary widely in performance. With 90% specificity, the best tests detected only two thirds of children having > or =1 targeted conditions, but nearly 90% of children with the most important conditions. The 2 tests that use static photorefractive technology were less accurate than 3 tests that assess refractive error in other ways. These results have important implications for screening preschool-aged children.

A state-by-state survey regarding preschool vision screening guidelines, policies, and procedures was conducted. Currently 34 states provide vision screening guidelines and 15 states require vision screening of at least some of their preschool-aged children. The Department of Public Health administers the programs in 26 states, the Department of Education in 13. A wide range of professional and lay personnel conduct preschool vision screenings, and nurses participate in the screening process in 22 states. Visual acuity is assessed in 30 states, eye alignment in 24 states, refractive error in eight states, and color vision in 10 states. A combination of screening tests is recommended in 24 states. Currently, 45 states do not require screening of all preschool children. Thus, although laws, guidelines, and recommendations exist in most states, many preschool-age children do not have access to vision screening programs.

Background: The purpose of this study was to fill a significant void in the ophthalmic literature by performing a large scale, comprehensive, prospective study of the prevalence of vision disorders and ocular pathology in a clinical pediatric population using well-defined diagnostic criteria., Methods: A prospective study was performed on 2,023 consecutive patients between the ages of 6 months and 18 years presenting for an initial comprehensive examination at the Eye Institute of The Pennsylvania College of Optometry. There were 373 subjects between 6 months and 5 years, 11 months of age, and 1,650 subjects between 6 years and 18 years of age., Results: The most important finding from this study is that other than refractive anomalies, the most common conditions optometrists are likely to encounter in a pediatric population are binocular vision and accommodative disorders. The prevalence of accommodative and binocular (strabismic and non-strabismic) vision disorders is 9.7 times greater than the prevalence of ocular disease in children 6 months to 5 years of age, and 8.5 times greater than the prevalence of ocular disease in children 6 to 18 years of age., Conclusions: The data from this study has great significance for clinicians, optometric educational institutions, health care planners, and administrators. This data suggests that other than refractive anomalies, the most prevalent conditions in the clinical pediatric population are binocular and accommodative disorders. Clinicians should use a minimum data base that includes assessments of accommodation and binocular vision that will allow them to detect conditions with the highest prevalence.

Evaluating the visual functioning of children with multiple impairments has long been a source of frustration for many eye care practitioners. A reflection of this difficulty is seen in the number of persons with multiple handicaps, especially children who are labeled "untestable" or "blind" by eye care specialists, but whose parents, teachers, and other caregivers know have some residual vision. These children with special needs may not be responsive to standard testing procedures for a variety of reasons. Stress-related behaviors, orthopedic and neuromuscular disorders, mental retardation, and preverbal levels of development will often greatly interfere with communication and co-operation levels. As parents, educators, and rehabilitation professionals have become aware of the importance of vision in the development of any child, the demand for comprehensive functional vision evaluations has substantially increased. The purpose of this paper is to present a functional vision evaluation for a child with special needs. Although one case is given as an example, guidelines for the evaluation of all special needs children are presented. It is important for eye care specialists to utilize these examination procedures in order to provide a framework from which comprehensive vision services can be delivered in conjunction with available community resources.

A 5-1/2 year old black female initially presenting with a moderate angle esotropia and latent hyperopia developed a large angle constant exotropia 2 years after final correction of her refractive error. The occurrence of consecutive exotropia as a result of optical correction of hyperopia has been documented infrequently in the ophthalmologic literature and has rarely been mentioned in the optometric literature. While the overall risk for occurrence of this complication from correction of hyperopia may be small, it is a problem which may occur and can be avoided. Unfortunately, there is only limited information about the various risk factors that should be monitored to avoid the occurrence of an optically induced consecutive exotropia. What is available with regard to evaluation and management is scant, and there are no case reports emphasizing optometric management which includes the use of lenses, occlusion and vision therapy. The purpose of this paper is to present a case report of optically induced consecutive exotropia followed by a summary of the available information from the optometric and ophthalmologic literature. This combined information will aid optometrists managing these patients to avoid the occurrence of this problem and better understand the various management aspects when it does occur.

The objectives of this pilot study were to investigate the effectiveness of Irlen filters for improving comfort and reading performance and to determine whether traditional optometric intervention would be effective in relieving the symptoms commonly reported by people seeking help through the use of Irlen filters. Thirty subjects were included in the study: 12 males and 18 females. The ages of the subjects ranged from 9 to 51 (mean = 23.6). They were randomly placed in either an Irlen filter treatment group (n = 11), a vision therapy treatment group (n = 11), or a control group (n = 8). Pre- and posttesting on all subjects included a vision evaluation, reading and intelligence testing, the Irlen scotopic sensitivity screening test, and a symptom questionnaire. Results revealed that subjects in both treatment groups were more comfortable after treatment, although only the vision therapy group showed improvement in vision functioning. The subjects in the Irlen filter group did not show any significant gains in reading rate, word recognition in context, or comprehension.

Individuals with "scotopic sensitivity syndrome" have been reported to have visual symptoms including eye strain, headaches, blurred vision, double vision and words moving on the page. This study was designed to investigate Irlen's claims that these symptoms are unrelated to vision anomalies. She suggests that the use of Irlen tinted lenses/filters relieves these symptoms and results in improved reading performance. Thirty nine subjects (age 10-49) were recruited by advertising for a study of Irlen Filters/Lenses. Before the Irlen screening all subjects received an optometric examination. The results of this study demonstrate that 95 percent of the subjects identified as candidates for Irlen Filters did have significant and readily identifiable vision anomalies. Fifty seven percent of the subjects had received vision care within the past year, yet testing revealed that 90 percent of these subjects had significant vision problems that had not been corrected.

Although the entity of divergence insufficiency was described as early as 1886 by Duane, it has received relatively little attention in the literature. Patients presenting with a greater eso deviation at distance than at near, a concomitant deviation, and diplopia pose a challenging and critical diagnostic and therapeutic puzzle for the clinician. Divergence insufficiency, a benign condition, must be differentiated from divergence paralysis and sixth nerve palsy, two conditions that present with somewhat similar findings yet have underlying etiologies of a serious nature. This paper reviews the literature and clarifies the etiology, diagnosis, and treatment of divergence insufficiency and related conditions.

An extensive literature search covering the last 35 years was undertaken to retrieve all English language articles reporting results of surgical management of infantile esotropia. Only 27 of the 48 studies retrieved met the minimum criteria which we established for inclusion in our analysis. The success rate for achieving some level of binocular vision was 22% in 1286 patients, while the overall cosmetic success rate was 63% in 2113 patients. Newer surgical procedures appear to be more effective in achieving cosmetic success. Although controversy still exists about the optimal time for surgery, the most reasonable approach appears to be the concept of performing surgery as soon as an accurate determination can be made of the deviation and associated characteristics, and only after attention has been directed to any accommodative component and treatment of amblyopia. Although approximately 60% of patients referred for surgery can be expected to achieve cosmetic improvement after the first operation, the need for multiple surgery is common. There is a trend toward recurrence of the strabismus, and the need for short interval, long-term optometric follow-up is essential.

The role of the optometrist in treating children who are identified as learning disabled is not always understood by members of an interdisciplinary team. It is the purpose of this paper to develop a brief philosophical foundation for optometric intervention and to review some of the literature which supports the validity of optometric therapy. Correlational studies are cited to establish a basic relationship between perceptual dysfunctions and learning readiness in normal children. After establishing that perceptual training does indeed improve perceptual skills, we cite a number of investigations where intervention enabled children who had been classified as learning disabled to respond more effectively to school learning. The role of the optometrist as a member of an interdisciplinary team is addressed.

An extensive literature search covering the last 35 years was undertaken to retrieve all English language articles reporting results of surgical management of acquired, comitant, nonaccommodative and partially accommodative esotropia. Thirty-nine studies were found, but only 15 met the minimum criteria which we established for inclusion in our analysis. The functional success rate was 15% in 1170 patients, while the overall cosmetic success rate was 43% in 1473 patients. Direct comparison to optometric studies is not possible since the criteria for success used in surgical studies are considerably different. The most prevalent complication is the need for reoperation as a result of consecutive exotropia. The data indicate that an end result of consecutive exotropia is almost as likely as a functional cure.