Insights Regarding Optometric Findings of CHARGE Syndrome in a Pediatric Low Vision Clinic.

SIGNIFICANCE: CHARGE, named for common findings-coloboma, heart defects, atresia of choanae, retardation of growth and development, genital hypoplasia, and ear anomalies-is a frequent etiology of deaf-blindness. A retrospective review in a pediatric low vision clinic presented the opportunity to investigate ocular findings in this syndrome with variable clinical presentations. PURPOSE: This retrospective study reviewed ocular findings and visual function measures from low vision evaluations of patients with CHARGE syndrome, which may influence their multidisciplinary management. METHODS: A retrospective chart review was conducted by three examiners of 60 patients presenting with CHARGE syndrome at a pediatric low vision clinic. Visual acuity and contrast sensitivity were obtained using standard measures. Ocular alignment and cycloplegic refractive error measurements were recorded. Refractive findings were analyzed using vector analysis. Anterior and posterior segment findings were recorded. RESULTS: Patients ranged in age from 1 to 29 years and were followed up for a mean of 4.3 years. Best-corrected visual acuity ranged from no light perception to 20/20 Snellen equivalent. Characteristics of strabismus, occurring in 82% of patients, were reported. Contrast sensitivity was reduced in 52% of patients. Chorioretinal colobomas were reported in 88% of patients. The most common ocular findings included nystagmus (43%), microphthalmia (27%), iris coloboma (27%), and facial nerve palsy (23%). Refractive vector analysis revealed significant myopic progression of the spherical equivalent with age and a tendency for with-the-rule astigmatism and minimal obliquity. CONCLUSIONS: This retrospective review of a relatively large sample size for this rare condition outlined the most common ocular manifestations of CHARGE syndrome. Decreased visual acuity, myopic refractive error, strabismus, and reduced contrast sensitivity were common. Thus, careful optometric evaluation in this population is required, as these findings must be considered in appropriate clinical and habilitative management.

Implications of a Remote Study of Children With Cerebral Visual Impairment for Conducting Virtual Pediatric Eye Care Research: Virtual Assessment Is Possible for Children With CVI.

The Pandemic of 2020 impacted conducting in-person research. Our proposed project already had an asynchronous online component but was later morphed to add a synchronous online component, thereby eliminating the need for in-person assessment. The project compares the results of various tests between a group of children with Cerebral Visual Impairments (CVI) (N = 4) and an age-matched sample of children without CVI (N = 3) from a pediatric low vision clinic. This model was trialed with a small convenient sample of typically developing children in the same age range (N = 4). Given the positive feedback, recruitment for the larger study was done via encrypted e-mail rather than through traditional mailing. The asynchronous components included recruitment, pre-assessment information, the Flemish CVI questionnaire, Vineland-3 comprehensive parent questionnaire for assessment of age equivalent, and vision function tests, such as contrast sensitivity. The synchronous components were administered via Zoom telehealth provided by necoeyecare.org and included assessment of visual acuity via the Freiburg Visual Acuity and Contrast Test (FrACT) electronic software and assessment of visual perceptual batteries via the Children's Visual Impairment Test for developmental ages 3-6-years (CVIT 3-6). Our virtual testing protocol was successful in the seven participants tested. This paper reviews and critiques the model that we utilized and discusses ways in which this model can be improved. Aside from public health considerations during the pandemic, this approach is more convenient for many families. In a broader perspective, this approach can be scaled for larger N studies of rare conditions, such as CVI without being confined by proximity to the researcher.

Visual perception supported by verbal mediation in an individual with cerebral visual impairment (CVI).

Cerebral visual impairment (CVI) often presents with deficits associated with higher order visual processing. We report a case of an individual with CVI who uses a verbal mediation strategy to perceive and interact with his visual surroundings. Visual perceptual performance was assessed using a virtual reality based visual search task combined with eye tracking. Functional magnetic resonance imaging (fMRI) was employed to identify the neural correlates associated with this strategy. We found that when using verbal mediation, the individual could readily detect and track the target within the visual scene which was associated with robust activation within a network of occipito-parieto-temporal visual cortical areas. In contrast, when not using verbal mediation, the individual was completely unable to perform the task, and this was associated with dramatically reduced visual cortical activation. This unique compensatory strategy may be related to the individual's use of verbal working memory for the purposes of understanding complex visual information.

A New Contrast Sensitivity Test for Pediatric Patients: Feasibility and Inter-Examiner Reliability in Ocular Disorders and Cerebral Visual Impairment.

Purpose: Assess feasibility and interexaminer reliability of a new test of contrast sensitivity (CS) for pediatric populations. Methods: The Double Happy (DH) measures CS using a method similar to the Teller Acuity Cards. The schematic DH face is 16 degrees in diameter with features of 0.3 c/d and a channel frequency of 0.8 c/d. DH log10 CS is in 0.15 log unit steps, 0.05 to 2.1. Participants were 43 unselected patients, ages 2 to 18 years: 23 were diagnosed with ocular disorders only; 20 were diagnosed with cerebral visual impairment (CVI). Two examiners measured DH log10 CS. Visual acuity (VA) was also measured. Results: All 43 participants were tested for binocular DH log10CS. Cohen's kappa values for interexaminer reliability were fair. The between examiner ICC was +0.92 (P < 0.001). The mean difference between examiners was near zero, and the 95% CI was -0.44 to 0.45 log10CS. DH log10CS was near normal in the ocular disorder group and reduced in the CVI group. VA was reduced in both groups. DH log10 CS and VA were correlated (r = -0.65). DH log10 CS was a marginally better predictor of diagnosis than VA. Conclusions: DH log10CS test was successful in a diverse pediatric population diagnosed with ocular disorders or CVI. Interexaminer reliability was comparable to that of adults tested previously using the same stimuli and methods. Both CS and VA are reduced in CVI. Translational Relevance: CS and VA both should be tested in pediatric clinical populations, especially in those at risk of CVI.

Cerebral/Cortical Visual Impairment: A Need to Reassess Current Definitions of Visual Impairment and Blindness.

Cerebral/cortical visual impairment (CVI) is characterized by higher order visual dysfunction caused by injury to the retrogeniculate visual pathways and brain structures which subserve visual processing. CVI has become the leading cause of significant vision loss in children in developed countries, but continues to be an under-recognized cause of visual disability with respect to services aimed at maximizing visual development. Current criteria which are used to define visual disability rely on measures of visual acuity and visual field. Many children who require specialized vision services do not qualify, because these standard definitions of vision impairment do not account for CVI. In order to appropriately identify patients with CVI and offer the resources which may positively impact functional use of vision, the definition of visual impairment and blindness needs to be modified. This commentary calls for a change in the definition of visual impairment and blindness to acknowledge those persons with brain-based vision impairment.

Disentangling How the Brain is "Wired" in Cortical (Cerebral) Visual Impairment.

Cortical (cerebral) visual impairment (CVI) results from perinatal injury to visual processing structures and pathways of the brain and is the most common cause of severe visual impairment or blindness in children in developed countries. Children with CVI display a wide range of visual deficits including decreased visual acuity, impaired visual field function, as well as impairments in higher-order visual processing and attention. Together, these visual impairments can dramatically influence a child's development and well-being. Given the complex neurologic underpinnings of this condition, CVI is often undiagnosed by eye care practitioners. Furthermore, the neurophysiological basis of CVI in relation to observed visual processing deficits remains poorly understood. Here, we present some of the challenges associated with the clinical assessment and management of individuals with CVI. We discuss how advances in brain imaging are likely to help uncover the underlying neurophysiology of this condition. In particular, we demonstrate how structural and functional neuroimaging approaches can help gain insight into abnormalities of white matter connectivity and cortical activation patterns, respectively. Establishing a connection between how changes within the brain relate to visual impairments in CVI will be important for developing effective rehabilitative and education strategies for individuals living with this condition.

Teller II and Cardiff Acuity testing in a school-age deafblind population.

PURPOSE: To compare Teller Acuity Cards II (TAC II) and Cardiff Acuity Test (CAT) acuities, test-retest reliability and testability in children with visual, auditory, motor and cognitive impairments. METHODS: Twenty-one children designated as "Deafblind" were tested under binocular conditions. Visual acuity was measured with both the TAC II and CAT in two sessions, with test order randomized and counterbalanced between sessions. Visual acuity, examiner confidence in the acuity result (3 point scale), testing time, and level of motor impairment (3 point scale) were recorded. Information about visual and auditory function and ocular and medical diagnoses were obtained by record review. RESULTS: The success rate was high (95%) and test time similar (p = 0.267) for both tests (TAC II, 204 +/- 111 s; CAT, 222 +/- 111 s). Mean LogMAR acuities were not significantly different (TAC II, 0.82 +/- 0.47; CAT, 0.72 +/- 0.47; p = 0.068). The 95% limits of agreement for LogMAR test-retest differences were +/-0.60 for TAC II and +/-0.70 for the CAT and there was a trend for increased variability with poorer acuity for the CAT test only. CONCLUSIONS: The TAC II and CAT give similar estimates of acuity, test-retest reliability, and testing time in this small population of "Deafblind" children. Future studies should be designed to explore whether these results are consistent in subpopulations, such as Deafblind children with very poor vision and/or significant motor impairment. Moreover, additional study is necessary to evaluate the effect of patient characteristics on the examiner's ability to make threshold acuity judgements.

A telephone survey of low vision services in U.S. schools for the blind and visually impaired.

The scope of clinical low vision services and access to comprehensive eye care through U.S. schools for the blind and visually impaired is not well known. Advances in medicine and educational trends toward inclusion have resulted in higher numbers of visually impaired children with additional cognitive, motor, and developmental impairments enrolled in U.S. schools for the blind and visually impaired. The availability and frequency of eye care and vision education services for individuals with visual and multiple impairments at schools for the blind is explored in this report using data collected in a 24-item telephone survey from 35 of 42 identified U.S. schools for the blind. The results indicate that 54% of the contacted schools (19) offer clinical eye examinations. All of these schools provide eye care to the 6 to 21 age group, yet only 10 schools make this service available to children from birth to 3 years of age. In addition, two thirds of these schools discontinue eye care when the students graduate or transition to adult service agencies. The majority (94.7%) of eye care is provided by optometrists or a combination of optometry and ophthalmology, and 42.1% of these schools have an affiliation with an optometric institution. When there is a collaborative agreement, clinical services for students are available more frequently. The authors find that questions emerge regarding access to care, identification of appropriate models of care, and training of educational/medical/optometric personnel to meet the needs of a very complex patient population.