072: Assessing quality of life in adult strabismus

e18 FEOM1 genes, respectively. Previously, we reported a consanguineous Yemenite family in which affected children reduced to homozygosity across the dominant FEOM1 locus. We now exclude KIF21A and PHOX2A, and provide evidence for a new recessive CFEOM locus. Methods: DNA samples from 2 affected and 6 unaffected family members were sequenced for KIF21A and PHOX2A. An Affymetrix 10K SNP chip II genome-wide screen and multipoint linkage analysis were performed. Results: No mutations in PHOX2A or KIF21A were identified. Assuming recessive inheritance, the maximum LOD score of 2.12 was obtained in regions of chromosomes 8, 12, and 18. Within each region, both affected family members reduced to homozygosity. Conclusions: CFEOM is a genetically heterogeneous disorder for which an understanding of the underlying disease causing genes has given new insights into neuronal differentiation and axonal pathfinding. Our data provides candidate loci for a new recessive CFEOM gene. Genes within each region can now be screened for mutations. 069 Photosensitivity in albinism. Elizabeth S. M. Hielscher, C. Gail Summers, Ann M. Holleschau Introduction: Individuals with albinism frequently report sensitivity to sunlight. We sought to evaluate photosensitivity in individuals with albinism and determine its relationship to ocular pigmentation. Methods: Individuals with albinism were asked whether they used filtering glasses or a brimmed device for their photosensitivity and whether these were used all the time or some of the time. We assigned 2 points each for filters and brimmed devices if worn full time, 1 point for each if worn part-time, and 0 if not worn. We used the Spearman rank test to correlate this functional 'photosensitivity index' with grades of iris transillumination and grades of macular translucency, and the Mann–Whitney test to compare with presence or absence of melanin pigment in the macula. The Institutional Research Board approved this project. Results: One hundred two individuals (63% male) with a mean age of 9.22 years participated. Forty-three percent had OCA1, 34% had OCA2, 12% had OA1, and 11% had type unknown. Mean photosensitivity index was 2.79. Photosensitivity correlated weakly with iris and macular translucency (r 5 0.240, p 5 0.015; r 5 0.023, p 5 0.815, respectively). The photosensitivity index differed significantly between individuals with and without melanin pigment in the macula (p 5 0.006). Conclusions: The photosensitivity index can be used to measure functional effects of light sensitivity in individuals with albinism. Light sensitivity is related to macular melanin and perhaps other factors not studied. 070 Amblyopia in children with cranial nerve palsies secondary to brain tumors. Mary E. Hoehn, Monica Lynch, Natalie K. Kerr Introduction: Early-onset visual pathology tends to be more amblyogenic. We evaluated the relationship between age of onset for cranial nerve palsies (CNP) and the development of amblyopia. Methods: We performed a retrospective chart review of 73 children diagnosed with a CNP (III, IV, or VI) associated with a brain tumor who did not have any other ophthalmic diagnoses, which would impact visual acuity. Results: Twenty children developed amblyopia (Group A) and had a mean age of 2.2 years at time of CNP diagnosis (range, 0.42-9.75 years; SD 2.3). Fifty-three children did not develop amblyopia (Group B) and had a mean age of 7.9 years (range, 0.83-17.6 years; SD 4.6). The age at diagnosis was significantly different between the 2 groups

Volume 13 Number 1 / February 2009 (p\0.0001). Amblyopia developed in 67% of children age 0-2 years at CNP diagnosis, in 50% at 2-4 years, in 18% at 4-6 years, in 9% at 6-8 years, and in 4% over 8 years. There was no significant difference between the two groups with respect to tumor type, treatment, or motility and strabismus resolution (overall 47% and 11%, respectively). Discussion: Children with CNP from brain tumors may be particularly susceptible to amblyopia, as the strabismus from the CNP does not usually resolve. The likelihood of amblyopia in young children suggests a role for more aggressive and/or prophylactic amblyopia therapy in children under 4 who develop CNP. Conclusions: Younger children who develop CNP secondary to brain tumors are at high risk for developing amblyopia. 071 Vision-related quality of life in children with albinism. Ann M. Holleschau, Kathy M. Hogue, John T. MacDonald, August Holleschau, C. Gail Summers Introduction: Children with albinism typically have reduced visual acuity (VA). However, their quality of life (QOL) has not been wellstudied. Methods: We consented parents of children \13 who had an established diagnosis of albinism. Children $ age 8 signed assent forms. Parents completed a questionnaire about demographics and the Children's Visual Function Questionnaire (version 3; CVFQ). Children had binocular VA measured with Teller Acuity Cards (TAC), pictures, or letters. We used the Spearman rank test to correlate composite CVFQ with VA and age. Results: Forty-two male and 39 female subjects (median age: 5.17 years) participated. Forty-four had OCA1, 12 had OCA2, 2 had OA1, and 23 had type unknown. Median binocular VA was 20 of 180, 20 of 245, and 20 of 100 for those tested with TAC, pictures, and letters, respectively. Median composite CVFQ was 0.749 (lowest scores-family impact; highest scores-general health). The composite CVFQ correlated moderately with VA (r 5 0.431, p \ 0.001) and weakly with age (r 5 0.186, p 5 0.096). Discussion: The CVFQ scores health, vision, competence, personality, family impact, and treatment difficulty. The median composite score we obtained was 0.749 in children with albinism (maximum 1.0). This is similar to the QOL determined in a recent study of adults with albinism, where the median composite score was 75.7 (maximum 100). Conclusions: Birch et al concluded that the CVFQ was a reliable tool in assessing QOL in children born with cataract or ROP. We propose that it can also be a method of evaluating QOL in children with albinism, and may be helpful in studying outcomes of interventional studies. 072 Assessing quality of life in adult strabismus. Jonathan M. Holmes, Sarah R. Hatt, David A. Leske, Elizabeth A. Bradley, Stephen R. Cole Introduction: Quantitative assessment of health-related quality of life is important both in clinical practice and clinical studies but, until recently, there have been no validated questionnaires designed specifically for adult strabismus. Methods: Eighty-four adults with strabismus (ages 18 to 81 years, 65 diplopic, 19 nondiplopic) completed the new AS-20 (developed specifically for adult strabismus) and the NEIVFQ-25 (VFQ-25) questionnaires. Each questionnaire is scaled from 0, representing the worse HRQOL, to 100, the best. Thresholds for ''normal'' were defined as 1.96 x SD below the published means for normal nonstrabismic adults. The proportions of subjects ''below normal,'' were compared overall and by whether or not the patient had diplopia.

Journal of AAPOS

Volume 13 Number 1 / February 2009 Results: Overall, more patients scored below normal with the AS20 than the VFQ-25 (90% vs 37%, p \ 0.0001 McNemars test). Nondiplopic patients were more often below normal on the AS-20 Psychosocial subscale than the Functional subscale (95% vs 74%), and diplopic patients were often below normal on both subscales (63% vs 91%). The VFQ-25 was insensitive to nondiplopic strabismus, with only 11% below normal on composite score and no subscales .50% abnormal. The VFQ-25 performed somewhat better in diplopic strabismus with 45% below normal on composite and 5 subscales .50% abnormal peripheral vision and vision-specific social functioning, mental health, role difficulties, and dependency. Conclusions: The new AS-20 is more sensitive than the VFQ-25 for detecting reduced health related quality of life in adult strabismus, and may be more useful for clinical assessment and for clinical trials in strabismus. 073 Long-term outcomes in different degrees of compliance with wearing spectacles in children with accommodative esotropia. Mohamed A. Hussein, David R. Weakley Introduction: The aim of this study is to compare the long-term motor and sensory outcome of children with accommodative esotropia with variable degrees of spectacle compliance. Methods: We reviewed the charts of patients who had a diagnosis of accommodative esotropia with at least 3 diopters of hyperopia and at least 1 year of follow-up. Patients were analyzed based on 3 levels of spectacle compliance (good, fair, and poor).The main outcome measures for treatment were fusion, stereopsis and motor alignment. Results: Ninety-two patients with a mean follow-up of 61.4 months (range, 12 to 200 months), were included. Fair compliance, as compared with good compliance, was associated with greater risk for poor sensory outcome (odds ratio [OR] 5 4.5507, 95% confidence interval [CI] from 2.1 to 24.7, p 5 0.0003), and poor motor outcome (OR 5 4.11, 95% CI from 1.44 to 11.75, p 5 0.0065). Poor compliance, as compared with good compliance, was associated with higher risk for poor sensory outcome (OR 5 12.3236, 95% CI from 1.29 to 96.79, p 5 0.0061) and poor motor outcome (OR 5 11.6644, 95% CI from 2.38 to 74.19, p 5 0.0006). Discussion: Sensory and motor outcomes in accommodative esotropia are significantly worse in patients with fair or poor spectacle compliance when compared to those with good compliance. Conclusions: Spectacle compliance influences treatment outcome in accommodative esotropia. 074 Photorefractive keratectomy for the treatment of purely refractive accommodative esotropia: Six-year experience. Amy K. Hutchinson, Massimiliano Serafino, Paolo Nucci Purpose: To report the long-term outcomes of photorefractive keratectomy (PRK) for the treatment of hyperopia associated with purely refractive accommodative esotropia. Methods: We retrospectively reviewed the medical records of consecutive young adults who underwent bilateral simulataneous PRK by using the Chiron Technolas 217 eximer laser to eliminate their dependence on glasses. We recorded their pre- and postoperative best spectacle corrected visual acuity (BSCVA), uncorrected visual acuity (UCVA), refractive spherical equvalent (SEQ), ocular alignment, and stereoacuity. The Student's t test was used to determine statistical significance. Results: Forty patients with mean age 27.9 years were treated for a mean preoperative SEQ of 13.06D hyperopia. Mean follow-up was 3.4 years (range, 1-6 years). The mean final postoperative SEQ was

Journal of AAPOS

e19 10.06D. Preoperative BSCVA was 20 of 22 and did not change postoperatively. Mean UCVA significantly improved from 20 of 35 preoperatively to 20 of 23 postoperatively. Mean preoperative esotropia at distance and near was 10.6D. All patients were orthophoric without correction at the one month, one year, and final postoperative evaluations. Visual acuity, refractive error and alignment remained stable after the one year postoperative examination. There was no significant change in stereoacuity after treatment. There were no complications. Conclusions: PRK is safe and effective in treating low-to-moderate hyperopia associated with purely refractive accommodative esotropia in young adults. 075 Autosomal-dominant Duane retraction syndrome (adDRS): Phenotypic and molecular effects of the G228S mutation in the CHN1 (DURS2) gene. Alessandro Iannaccone, Noriko Miyake, Maria Laura Ciccarelli, Long Cheng, Caroline Andrews, Mara Campioni, Alfonso Baldi, Natalie C. Kerr, Elizabeth C. Engle Purpose: We report the clinical phenotype of adDRS due a CHN1 (DURS2) mutation resulting in a Glycine-to-Serine (G228S) amino acid substitution, and the aberrant behavior of the a2-chimaerin protein harboring this mutation. Methods: We ascertained ocular motility and collected ocular clinical/surgical and systemic history in a 2-generation Italian adDRS family that tested positive for the G228S CHN1 gene mutation.1 HEK293T cells were transfected with mutant a2-chimaerin to characterize its behavior in vitro. The developing chick oculomotor nerve (OMN) was electroporated with G228S a2-chimaerin to study its effect on nerve fiber development. Results: Three males (two 18-year-old and 32-year-old brothers, and their 62 year-old father) had bilateral asymmetric type I DRS, with impaired abduction, esotropia and hypertropia. The 32-yearold case was the most severe, displaying also retraction, amblyopia, and associated congenital scoliosis, muscular hypotrophy of arms and scapular/pectoral region, and thumb anomalies. Systemic findings were milder in the 18 year-old brother, and minimal in the 62 year-old father. The CHN1 gene is alternatively spliced to produce a1- and a2-chimaerin. G228S compromises the diacylglycerol (DAG) binding site and hyperactivates a2-chimaerin, impairing the ability of this molecule to act as an intracellular signaling cascade regulator on cytoskeletal dynamics (reduced enzymatic [RacGAP] activity and enhanced membrane translocation). This dominant, gain-of-function effect leads to aberrant branching and defasciculation of the OMN. Conclusions: The G228S mutation segregated with the observed DRS phenotype, and laboratory studies explained the clinical manifestations. Hyperactivation of a2-chimaerin impairs its function, alters OMN development, and accounts for the adDRS phenotype associated with CHN1 mutations. 076 Age at the time of cataract surgery and relative risk for aphakic glaucoma in nontraumatic infantile cataract without microcornea. Arif O. Khan, Saad Al-Dahmash Purpose: To report the relative risk for aphakic glaucoma as function of age at surgery in infants who underwent cataract surgery before 10 months of age for nontraumatic cataract without microcornea. Methods: Institutional retrospective case series of children who underwent cataract surgery without intraocular lens implantation for nontraumatic infantile cataract before 10 months of age. Patients with less than 5 years' postsurgical follow-up, microcornea, persistent fetal vasculature, and/or other significant anterior segment