Abstract
Purpose:
To evaluate functional vision in patients with CHARGE syndrome (coloboma, heart defects, atresia of the choanae, retardation of growth and development, genital and urinary anomalies, and ear anomalies) by using a new questionnaire entitled VISIOCHARGE.
Methods:
Ophthalmological data including fundus description and visual acuity, when available, were extracted from the charts of 83 patients with CHARGE syndrome, and the VISIOCHARGE questionnaire was prospectively mailed to 55 of those patients. The answers from the 36 responders (18 males) allowed for the calculation of three scores that assessed distance vision, near vision, and overall ability scores.
Results:
Visual acuity measurements were extracted from the charts of 20 of the 36 patients. The mean visual acuity was 20/50. The mean distance vision score of 0.62 ± 0.30 and near vision score of 0.78 ± 0.23 were correlated with visual acuity in the 20 patients (ρ = 0.64, P = .002 and ρ = 0.61, P = .005, respectively) and were associated with the severity of colobomatous malformation (P = .049 and P = .008, respectively). Severity of the ocular malformation was not associated with the overall ability score (P = .64).
Conclusions:
The VISIOCHARGE questionnaire is feasible for patients with CHARGE syndrome and may help in the assessment of visual function. The mean visual acuity and answers to the VISIOCHARGE questionnaire showed relatively good visual skills in patients with CHARGE syndrome in everyday life, even in those with bilateral colobomas, which contrasts with the pessimistic conclusions usually resulting from the initial fundus examination.
[J Pediatr Ophthalmol Strabismus. 2020;57(2):120–128.]
- 1.Blake KD, Prasad C. CHARGE syndrome. Orphanet J Rare Dis. 2006; 1(1):34.
10.1186/1750-1172-1-34 > Crossref MedlineGoogle Scholar - 2.Verloes A. Updated diagnostic criteria for CHARGE syndrome: a proposal. Am J Med Genet A. 2005; 133A(3):306–308.
10.1002/ajmg.a.30559 > Crossref MedlineGoogle Scholar - 3.Legendre M, Abadie V, Attié-Bitach T, Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome. Am J Med Genet C Semin Med Genet. 2017; 175(4):417–430.
10.1002/ajmg.c.31591 > Crossref MedlineGoogle Scholar - 4.McMain K, Blake K, Smith I, Ocular features of CHARGE syndrome. J AAPOS. 2008; 12(5):460–465.
10.1016/j.jaapos.2008.02.009 > Crossref MedlineGoogle Scholar - 5.Nishina S, Kosaki R, Yagihashi T, Ophthalmic features of CHARGE syndrome with CHD7 mutations. Am J Med Genet A. 2012; 158A(3):514–518.
10.1002/ajmg.a.34400 > Crossref MedlineGoogle Scholar - 6.Russell-Eggitt IM, Blake KD, Taylor DS, Wyse RK. The eye in the CHARGE association. Br J Ophthalmol. 1990; 74(7):421–426.
10.1136/bjo.74.7.421 > Crossref MedlineGoogle Scholar - 7.Strömland K, Sjögreen L, Johansson M, CHARGE association in Sweden: malformations and functional deficits. Am J Med Genet A. 2005; 133A(3):331–339.
10.1002/ajmg.a.30563 > Crossref MedlineGoogle Scholar - 8.Tellier AL, Cormier-Daire V, Abadie V, CHARGE syndrome: report of 47 cases and review. Am J Med Genet. 1998; 76(5):402–409. > Crossref MedlineGoogle Scholar
- 9.Raqbi F, Le Bihan C, Morisseau-Durand MP, Dureau P, Lyonnet S, Abadie V. Early prognostic factors for intellectual outcome in CHARGE syndrome. Dev Med Child Neurol. 2003; 45(7):483–488.
10.1111/j.1469-8749.2003.tb00944.x > Crossref MedlineGoogle Scholar - 10.Salem-Hartshorne N, Jacob S. Adaptive behavior in children with CHARGE syndrome. Am J Med Genet A. 2005; 133A(3):262–267.
10.1002/ajmg.a.30546 > Crossref MedlineGoogle Scholar - 11.Mackie RT, McCulloch DL. Assessment of visual acuity in multiply handicapped children. Br J Ophthalmol. 1995; 79(3):290–296.
10.1136/bjo.79.3.290 > Crossref MedlineGoogle Scholar - 12.Cochrane GM, Marella M, Keeffe JE, Lamoureux EL. The Impact of Vision Impairment for Children (IVI_C): validation of a vision-specific pediatric quality-of-life questionnaire using Rasch analysis. Invest Ophthalmol Vis Sci. 2011; 52(3):1632–1640.
10.1167/iovs.10-6079 > Crossref MedlineGoogle Scholar - 13.Felius J, Stager DR, Berry PM, Development of an instrument to assess vision-related quality of life in young children. Am J Ophthalmol. 2004; 138(3):362–372.
10.1016/j.ajo.2004.05.010 > Crossref MedlineGoogle Scholar - 14.Gothwal VK, Sumalini R, Bharani S, Reddy SP, Bagga DK. The second version of the L. V. Prasad-functional vision questionnaire. Optom Vis Sci. 2012; 89(11):1601–1610.
10.1097/OPX.0b013e31826ca291 > Crossref MedlineGoogle Scholar - 15.Katsumi O, Chedid SG, Kronheim JK, Henry RK, Jones CM, Hi-rose T. Visual Ability Score—a new method to analyze ability in visually impaired children. Acta Ophthalmol Scand. 1998; 76(1):50–55.
10.1034/j.1600-0420.1998.760109.x > Crossref MedlineGoogle Scholar - 16.Khadka J, Ryan B, Margrain TH, Court H, Woodhouse JM. Development of the 25-item Cardiff Visual Ability Questionnaire for Children (CVAQC). Br J Ophthalmol. 2010; 94(6):730–735.
10.1136/bjo.2009.171181 > Crossref MedlineGoogle Scholar - 17.Pueyo V, García-Ormaechea I, González I, Development of the Preverbal Visual Assessment (PreViAs) questionnaire. Early Hum Dev. 2014; 90(4):165–168.
10.1016/j.earlhumdev.2014.01.012 > Crossref MedlineGoogle Scholar - 18.Tadic V, Cooper A, Cumberland P, Lewando-Hundt G, Rahi JSVision-related Quality of Life Group. Development of the functional vision questionnaire for children and young people with visual impairment: the FVQ_CYP. Ophthalmology. 2013; 120(12):2725–2732.
10.1016/j.ophtha.2013.07.055 > Crossref MedlineGoogle Scholar - 19.Ferziger NB, Nemet P, Brezner A, Feldman R, Galili G, Zivotofsky AZ. Visual assessment in children with cerebral palsy: implementation of a functional questionnaire. Dev Med Child Neurol. 2011; 53(5):422–428.
10.1111/j.1469-8749.2010.03905.x > Crossref MedlineGoogle Scholar - 20.McCulloch DL, Mackie RT, Dutton GN, A visual skills inventory for children with neurological impairments. Dev Med Child Neurol. 2007; 49(10):757–763.
10.1111/j.1469-8749.2007.00757.x > Crossref MedlineGoogle Scholar - 21.Olsen TW, Summers CG. Predicting visual acuity in eyes with fundus colobomas: optic nerve involvement, size, or the fovea?Ophthalmology. 1997; 104(9):1367–1368.
10.1016/S0161-6420(97)38955-6 > Crossref MedlineGoogle Scholar