Functional Vision Analysis in Patients With CHARGE Syndrome

Abstract

Purpose: CHARGE syndrome (CS) is a multiple malformative syndrome in which ocular colobomas cause visual impairment. Data are lacking regarding visual function because classical methods for visual acuity (VA) assessment are often not applicable in patients with CS. We evaluated vision in a pilot study of patients with CS by using a new questionnaire entitled VISIOCHARGE. Methods: Ophthalmological data including fundus description and VA, when available, were extracted from charts of 83 patients with CS, and VISIOCHARGE was prospectively sent to 55 of them. The answers of the 36 responders (18 males) allowed for calculating 3 scores assessing distance-vision, near-vision, and an "overall ability" score. Results: Visual acuity measurements were extracted from the charts of 20 of the 36 patients. The mean VA was 20/50. The mean distance-vision score of 0.62 (SD 0.30) and near-vision score of 0.78 (SD 0.23) were correlated with VA in the 20 patients (ρ=0.64, p=0.002 and ρ=0.61, p=0.005, respectively) and were associated with the severity of the colobomatous malformation (p=0.049 and p=0.008, respectively). Severity of the ocular malformation was not associated with overall ability score (p=0.64). Conclusions: VISIOCHARGE is feasible in patients with CS and may help in the assessment of visual function. The mean VA and the answers to the questionnaire showed relatively good visual skills in these patients in everyday life, even in those with bilateral colobomas, which contrasts with the pessimistic conclusions usually resulting from the initial fundus examination.

Visual Function and Ophthalmological Findings in CHARGE Syndrome: Revision of Literature, Definition of a New Clinical Spectrum and Genotype Phenotype Correlation

“…Difficulties in performing a complete behavioral clinical assessment depend partly on the level of active participation of CS patients, which is not always sufficient. Most information on visual function is available from ophthalmological assessments or from parent-reported measures [ 8 , 9 , 10 , 11 , 13 ].…”

“…The VISIOCHARGE questionnaire [ 13 ] was validated in the Italian language [ 24 ] and administered to the parents of all patients. It includes 30 items, divided in three categories: (1) parental evaluation of global vision, designed to assess parents’ opinion about the importance of their child’s visual impairment and its effect on everyday life; (2) evaluation of distance vision; and (3) evaluation of near vision.…”

“…Additional questions included information about the last ophthalmological visit, educational level and age of walking acquisition. Scores were expressed as decimals between 0 and 1 and calculated according to Martin et al [ 13 ].…”

“…Recently, Martin et al proposed a self-administered questionnaire entitled VISIOCHARGE and found relatively good visual skills in everyday life in patients with CS [ 13 ], but the extent of impairment of visual function cannot be easily appreciated by considering reported measures only.…”

<b>A Comprehensive</b> <b>Review on Inherited Sensorineural Hearing Loss and Their Syndromes</b>

“…CS diagnosed ear abnormalities including deafness and vestibular disorder with anomalies of heart defects, growth retardation, atresia of the choanae, coloboma of the eye, genital or urinary abnormalities, and is inherited with the autosomal dominant pattern with occurrence rate of 1:8500 -15000 live births [282][283][284][285]. Genetically variation in 7(CHD7) genes considered the major cause of CS, which encodes a chromo-domain helicase DNA binding protein.…”