Wanda Pfeifer - Academia.edu (original) (raw)
Papers by Wanda Pfeifer
PubMed, Oct 1, 2023
Unilateral congenital cataracts present multiple barriers in the development of vision and stereo... more Unilateral congenital cataracts present multiple barriers in the development of vision and stereoacuity despite the improved visual optics that early surgery, contact lenses and intraocular lenses (IOL) have provided. With better understanding of the latent period (the timeframe in which the abnormal event has no long-term effect on visual development in the deprived eye) and the critical periods (the age range during which developing brains can be altered in a profound and permanent way by abnormal experience) for stereoacuity and amblyopia we can focus our treatment methods to not only improve vision but also develop binocularity. Fifty years ago, it was believed that it was almost impossible for an eye with a unilateral congenital cataract to achieve good visual acuity. Twenty-five years ago, we believed that it was almost impossible for an eye with a unilateral cataract to achieve stereoacuity. It is time to expand our belief that the best that we can do with the eye in unilateral congenital cataract is to create a spare.
JAMA ophthalmology, Jan 29, 2015
The Intermittent Exotropia Questionnaire (IXTQ) is a patient, proxy, and parental report of quali... more The Intermittent Exotropia Questionnaire (IXTQ) is a patient, proxy, and parental report of quality of life specific to children with intermittent exotropia. We refine the IXTQ using Rasch analysis to improve reliability and validity. Rasch analysis was performed on responses of 575 patients with intermittent exotropia enrolled from May 15, 2008, through July 24, 2013, and their parents from each of the 4 IXTQ health-related quality-of-life questionnaires (child 5 through 7 years of age and child 8 through 17 years of age, proxy, and parent questionnaires). Questionnaire performance and structure were confirmed in a separate cohort of 379 patients with intermittent exotropia. One item was removed from the 12-item child and proxy questionnaires, and response options in the 8- to 17-year-old child IXTQ and proxy IXTQ were combined into 3 response options for both questionnaires. Targeting was relatively poor for the child and proxy questionnaires. For the parent questionnaire, 3 subsc...
Journal of Aapos, Feb 1, 2015
To determine the sensitivity and specificity of the Web-based vision-screening test (WBT) VisionF... more To determine the sensitivity and specificity of the Web-based vision-screening test (WBT) VisionForKids.org when administered by an untrained layperson in a controlled environment. METHODS Visual acuities were obtained by an untrained layperson using the WBT under observation and by an ophthalmic professional using the Electronic Visual Acuity (EVA) Tester. Subjects were randomized to which method was used first. Subjects were considered to have failed by the following criteria: in children \48 months, 20/50 vision; in children between 48 and 59 months, 20/40 or worse; in children $60 months, 20/30 or worse. The results of the vision examinations by the WBT and the EVA Tester were compared; sensitivity and specificity of the WBT and the correlation coefficient to detect normal and abnormal vision compared to EVA testing were determined. RESULTS Visual acuities were obtained on 203 children between ages 3 and 12 years (average age, 7.4 years). Sensitivity of the WBT was 78.7% (95% CI, 66.0%-87.7%), specificity was 89.4% (95% CI, 82.9%-93.8%). The correlation coefficient of EVA testing with the WBT was 0.89 (P \ 0.001). CONCLUSIONS This layperson-administered WBT, VisionForKids.org, is valid for identifying amblyopia in a controlled environment, making it possible for cost-effective and easily accessible vision screening to be performed by laypersons.
Nature Medicine
CEP290-associated Leber congenital amaurosis type 10 (LCA10) is a retinal disease resulting in ch... more CEP290-associated Leber congenital amaurosis type 10 (LCA10) is a retinal disease resulting in childhood blindness. Sepofarsen is an RNA antisense oligonucleotide targeting the c.2991+1655A>G variant in the CEP290 gene to treat LCA10. In this open-label, phase 1b/2 (NCT03140969), 12-month, multicenter, multiple-dose, dose-escalation trial, six adult patients and five pediatric patients received ≤4 doses of intravitreal sepofarsen into the worse-seeing eye. The primary objective was to evaluate sepofarsen safety and tolerability via the frequency and severity of ocular adverse events (AEs); secondary objectives were to evaluate pharmacokinetics and efficacy via changes in functional outcomes. Six patients received sepofarsen 160 µg/80 µg, and five patients received sepofarsen 320 µg/160 µg. Ten of 11 (90.9%) patients developed ocular AEs in the treated eye (5/6 with 160 µg/80 µg; 5/5 with 320 µg/160 µg) versus one of 11 (9.1%) in the untreated eye; most were mild in severity and d...
Investigative Ophthalmology & Visual Science, 2020
Results of a phase 1b/2 trial of intravitreal (IVT) sepofarsen (QR-110) antisense oligonucleotide... more Results of a phase 1b/2 trial of intravitreal (IVT) sepofarsen (QR-110) antisense oligonucleotide in Leber congenital amaurosis 10 (LCA10) due to p.Cys998X mutation in the CEP290 gene
Journal of Aapos, Apr 1, 2005
To determine the effectiveness and side effects of full-time occlusion for the treatment of ambly... more To determine the effectiveness and side effects of full-time occlusion for the treatment of amblyopia. Methods: Patients with unilateral amblyopia secondary to strabismus, anisometropia, or a combination of the two were retrospective reviewed. All patients had full-time occlusion encompassing 24 hours per day or all waking hours, followed to a defined endpoint. Success was defined as 20/30 or better or equal visual acuity by fixation pattern between the two eyes. The ultimate goal was equal visual acuity. Results: Six hundred patients fit the inclusion criteria. Mean follow-up after the cessation of full-time patching was 7.2 years. Eighty-nine percent were followed for more than 1 year. Mean age at last follow-up visit was 10.82 years. Ninety-six percent of patients attained a successful visual result. Sixty percent attained equal visual acuity. Younger patients required less occlusion time to endpoint and had a better visual outcome (P Ͻ 0.0001). Initial visual acuity was significantly related to best visual acuity attained (P Ͻ 0.0001). The incidence of occlusion amblyopia was 25.8%. Conclusions: Full-time occlusion produces excellent visual acuity results. It was shown to be effective with no long-term complications if patients proceed as directed.
Journal of American Association for Pediatric Ophthalmology and Strabismus
Mouse models of CLN3 Batten disease, a rare lysosomal storage disorder with no cure, have improve... more Mouse models of CLN3 Batten disease, a rare lysosomal storage disorder with no cure, have improved our understanding of CLN3 biology and therapeutics through their ease of use and a consistent display of cellular pathology. However, the translatability of murine models is limited by disparities in anatomy, body size, life span, and inconsistent, subtle behavior deficits that can be difficult to detect in CLN3 mutant mouse models, limiting their utility in preclinical studies. Here we present a longitudinal characterization of a novel miniswine model of CLN3 disease that recapitulates the most common human pathogenic variant, an exon 7-8 deletion (CLN3Δex7/8). Progressive pathology and neuron loss is observed in various regions of the CLN3Δex7/8 miniswine brain and retina. Additionally, mutant miniswine present with vision impairment and motor abnormalities, similar to deficits seen in human patients. Taken together, the CLN3Δex7/8 miniswine model shows consistent and progressive Bat...
Documenta Ophthalmologica
Investigative Opthalmology & Visual Science
Insight, 2010
The purpose of this study was to determine if patients and their families in a pediatric ophthalm... more The purpose of this study was to determine if patients and their families in a pediatric ophthalmology and adult strabismus clinic have a preference regarding physician and staffattire. Patients and/or parents were invited to complete a three-question survey. Respondents were queried based on three types of attire preference: white coat, professional clothing without white coat, or casual attire without white coat. Two hundred twenty-seven patients participated. Of the patients queried, no preference for any one style of physician attire was found. These results do not support previous studies indicating significant preference for white coats.
Investigative Ophthalmology & Visual Science, 2016
American Orthoptic Journal, 2006
Introduction There are four vision screening devices that are currently being used to screen chil... more Introduction There are four vision screening devices that are currently being used to screen children in the United States. Results The MTI PS-100 Photoscreener™ (Medical Technology and Innovations Inc., Rivera Beach, Fla.) is an off-axis instant film photoscreener. It has been the instrument used by the Lions Club International Foundation (LCIF) to provide free vision screening to approximately 400,000 children in 16 states. The Visiscreen™ OSS-C (Vision Research Corp., Birmingham, Ala.) is an off-axis photorefractor, that uses 35 mm film. The Visiscreen™ OSS-C has been used extensively in mass screenings of over 2,000,000 children in eight states. The iScreen system (iScreen LLC, Memphis, Tenn.) is a digital off-axis photoscreener. Pediatricians and general practitioners are the primary users, screening approximately 130,000 children in twelve states. The Welsh Allyn® SureSight™ Vision Screener is a hand-held autorefractor that is used by pediatricians, general practitioners, and public health organizations. Conclusion As states continue to mandate vision screening, the desire to find the most effective screening device will continue to fuel changes in vision screening technology.
Journal of American Association for Pediatric Ophthalmology and Strabismus
Journal of American Association for Pediatric Ophthalmology and Strabismus
PubMed, Oct 1, 2023
Unilateral congenital cataracts present multiple barriers in the development of vision and stereo... more Unilateral congenital cataracts present multiple barriers in the development of vision and stereoacuity despite the improved visual optics that early surgery, contact lenses and intraocular lenses (IOL) have provided. With better understanding of the latent period (the timeframe in which the abnormal event has no long-term effect on visual development in the deprived eye) and the critical periods (the age range during which developing brains can be altered in a profound and permanent way by abnormal experience) for stereoacuity and amblyopia we can focus our treatment methods to not only improve vision but also develop binocularity. Fifty years ago, it was believed that it was almost impossible for an eye with a unilateral congenital cataract to achieve good visual acuity. Twenty-five years ago, we believed that it was almost impossible for an eye with a unilateral cataract to achieve stereoacuity. It is time to expand our belief that the best that we can do with the eye in unilateral congenital cataract is to create a spare.
JAMA ophthalmology, Jan 29, 2015
The Intermittent Exotropia Questionnaire (IXTQ) is a patient, proxy, and parental report of quali... more The Intermittent Exotropia Questionnaire (IXTQ) is a patient, proxy, and parental report of quality of life specific to children with intermittent exotropia. We refine the IXTQ using Rasch analysis to improve reliability and validity. Rasch analysis was performed on responses of 575 patients with intermittent exotropia enrolled from May 15, 2008, through July 24, 2013, and their parents from each of the 4 IXTQ health-related quality-of-life questionnaires (child 5 through 7 years of age and child 8 through 17 years of age, proxy, and parent questionnaires). Questionnaire performance and structure were confirmed in a separate cohort of 379 patients with intermittent exotropia. One item was removed from the 12-item child and proxy questionnaires, and response options in the 8- to 17-year-old child IXTQ and proxy IXTQ were combined into 3 response options for both questionnaires. Targeting was relatively poor for the child and proxy questionnaires. For the parent questionnaire, 3 subsc...
Journal of Aapos, Feb 1, 2015
To determine the sensitivity and specificity of the Web-based vision-screening test (WBT) VisionF... more To determine the sensitivity and specificity of the Web-based vision-screening test (WBT) VisionForKids.org when administered by an untrained layperson in a controlled environment. METHODS Visual acuities were obtained by an untrained layperson using the WBT under observation and by an ophthalmic professional using the Electronic Visual Acuity (EVA) Tester. Subjects were randomized to which method was used first. Subjects were considered to have failed by the following criteria: in children \48 months, 20/50 vision; in children between 48 and 59 months, 20/40 or worse; in children $60 months, 20/30 or worse. The results of the vision examinations by the WBT and the EVA Tester were compared; sensitivity and specificity of the WBT and the correlation coefficient to detect normal and abnormal vision compared to EVA testing were determined. RESULTS Visual acuities were obtained on 203 children between ages 3 and 12 years (average age, 7.4 years). Sensitivity of the WBT was 78.7% (95% CI, 66.0%-87.7%), specificity was 89.4% (95% CI, 82.9%-93.8%). The correlation coefficient of EVA testing with the WBT was 0.89 (P \ 0.001). CONCLUSIONS This layperson-administered WBT, VisionForKids.org, is valid for identifying amblyopia in a controlled environment, making it possible for cost-effective and easily accessible vision screening to be performed by laypersons.
Nature Medicine
CEP290-associated Leber congenital amaurosis type 10 (LCA10) is a retinal disease resulting in ch... more CEP290-associated Leber congenital amaurosis type 10 (LCA10) is a retinal disease resulting in childhood blindness. Sepofarsen is an RNA antisense oligonucleotide targeting the c.2991+1655A>G variant in the CEP290 gene to treat LCA10. In this open-label, phase 1b/2 (NCT03140969), 12-month, multicenter, multiple-dose, dose-escalation trial, six adult patients and five pediatric patients received ≤4 doses of intravitreal sepofarsen into the worse-seeing eye. The primary objective was to evaluate sepofarsen safety and tolerability via the frequency and severity of ocular adverse events (AEs); secondary objectives were to evaluate pharmacokinetics and efficacy via changes in functional outcomes. Six patients received sepofarsen 160 µg/80 µg, and five patients received sepofarsen 320 µg/160 µg. Ten of 11 (90.9%) patients developed ocular AEs in the treated eye (5/6 with 160 µg/80 µg; 5/5 with 320 µg/160 µg) versus one of 11 (9.1%) in the untreated eye; most were mild in severity and d...
Investigative Ophthalmology & Visual Science, 2020
Results of a phase 1b/2 trial of intravitreal (IVT) sepofarsen (QR-110) antisense oligonucleotide... more Results of a phase 1b/2 trial of intravitreal (IVT) sepofarsen (QR-110) antisense oligonucleotide in Leber congenital amaurosis 10 (LCA10) due to p.Cys998X mutation in the CEP290 gene
Journal of Aapos, Apr 1, 2005
To determine the effectiveness and side effects of full-time occlusion for the treatment of ambly... more To determine the effectiveness and side effects of full-time occlusion for the treatment of amblyopia. Methods: Patients with unilateral amblyopia secondary to strabismus, anisometropia, or a combination of the two were retrospective reviewed. All patients had full-time occlusion encompassing 24 hours per day or all waking hours, followed to a defined endpoint. Success was defined as 20/30 or better or equal visual acuity by fixation pattern between the two eyes. The ultimate goal was equal visual acuity. Results: Six hundred patients fit the inclusion criteria. Mean follow-up after the cessation of full-time patching was 7.2 years. Eighty-nine percent were followed for more than 1 year. Mean age at last follow-up visit was 10.82 years. Ninety-six percent of patients attained a successful visual result. Sixty percent attained equal visual acuity. Younger patients required less occlusion time to endpoint and had a better visual outcome (P Ͻ 0.0001). Initial visual acuity was significantly related to best visual acuity attained (P Ͻ 0.0001). The incidence of occlusion amblyopia was 25.8%. Conclusions: Full-time occlusion produces excellent visual acuity results. It was shown to be effective with no long-term complications if patients proceed as directed.
Journal of American Association for Pediatric Ophthalmology and Strabismus
Mouse models of CLN3 Batten disease, a rare lysosomal storage disorder with no cure, have improve... more Mouse models of CLN3 Batten disease, a rare lysosomal storage disorder with no cure, have improved our understanding of CLN3 biology and therapeutics through their ease of use and a consistent display of cellular pathology. However, the translatability of murine models is limited by disparities in anatomy, body size, life span, and inconsistent, subtle behavior deficits that can be difficult to detect in CLN3 mutant mouse models, limiting their utility in preclinical studies. Here we present a longitudinal characterization of a novel miniswine model of CLN3 disease that recapitulates the most common human pathogenic variant, an exon 7-8 deletion (CLN3Δex7/8). Progressive pathology and neuron loss is observed in various regions of the CLN3Δex7/8 miniswine brain and retina. Additionally, mutant miniswine present with vision impairment and motor abnormalities, similar to deficits seen in human patients. Taken together, the CLN3Δex7/8 miniswine model shows consistent and progressive Bat...
Documenta Ophthalmologica
Investigative Opthalmology & Visual Science
Insight, 2010
The purpose of this study was to determine if patients and their families in a pediatric ophthalm... more The purpose of this study was to determine if patients and their families in a pediatric ophthalmology and adult strabismus clinic have a preference regarding physician and staffattire. Patients and/or parents were invited to complete a three-question survey. Respondents were queried based on three types of attire preference: white coat, professional clothing without white coat, or casual attire without white coat. Two hundred twenty-seven patients participated. Of the patients queried, no preference for any one style of physician attire was found. These results do not support previous studies indicating significant preference for white coats.
Investigative Ophthalmology & Visual Science, 2016
American Orthoptic Journal, 2006
Introduction There are four vision screening devices that are currently being used to screen chil... more Introduction There are four vision screening devices that are currently being used to screen children in the United States. Results The MTI PS-100 Photoscreener™ (Medical Technology and Innovations Inc., Rivera Beach, Fla.) is an off-axis instant film photoscreener. It has been the instrument used by the Lions Club International Foundation (LCIF) to provide free vision screening to approximately 400,000 children in 16 states. The Visiscreen™ OSS-C (Vision Research Corp., Birmingham, Ala.) is an off-axis photorefractor, that uses 35 mm film. The Visiscreen™ OSS-C has been used extensively in mass screenings of over 2,000,000 children in eight states. The iScreen system (iScreen LLC, Memphis, Tenn.) is a digital off-axis photoscreener. Pediatricians and general practitioners are the primary users, screening approximately 130,000 children in twelve states. The Welsh Allyn® SureSight™ Vision Screener is a hand-held autorefractor that is used by pediatricians, general practitioners, and public health organizations. Conclusion As states continue to mandate vision screening, the desire to find the most effective screening device will continue to fuel changes in vision screening technology.
Journal of American Association for Pediatric Ophthalmology and Strabismus
Journal of American Association for Pediatric Ophthalmology and Strabismus