Eye Refraction Anomalies in Down Syndrome Families

Open access

Eye Refraction Anomalies in Down Syndrome Families

The extra chromosomal material in Down syndrome patients causes a generalised disruption in the genetic balance. From this viewpoint, the non-specific developmental instability following aneuploidy might be also responsible for ocular anomalies in patients with Down syndrome. The aim of this study was to identify the eye refraction anomalies in families having individuals with Down syndrome. A total of 199 Down syndrome patients (average age 17.0 years), 85 their siblings (17.0 years) and 229 their parents (average age 48.9 years) underwent eye refraction examination. In Down syndrome patients ocular refractive findings as spherical equivalent were: emetropia 4.2±1.0%, hypermetropia 70.0±2.3%, and myopia 25.8±2.2%. Astigmatism was diagnosed in 42.8±1.5% of patients. Refraction could not be identified in 3.8±1.0% of patients. In the control group of siblings refractive findings as spherical equivalent were: emmetropia 51.2±3.8%, hypermetropia 39.4±3.7%, and myopia 9.4±2.2%. Astigmatism was diagnosed in 7.6±2.0% of siblings. In parents refractive findings as spherical equivalent were: emmetropia 42.8±2.3%, hypermetropia 40.2±2.3%, and myopia 17±1.8%. Astigmatism was diagnosed in 7.9±1.3% of parents. Refraction could not be identified in 1.1±0.5% of parents. Astigmatism, which is phylogenetically more recent, was found in Down syndrome patients 5.6 times more often than control siblings and 5.4 times more than in the parents group.

Atkinson, J., Anker, S., Bobier, W., Oliver, B., Kim, D., Marko, N., Peter, W. (2000). Normal emmetropization in infants with spectacle correction for hyperopia. Invest. Ophthalmol. Vis. Sci., 41, 3726-3731.

Caputo, A.R., Wagner, R.S., Reynolds, D.R., Guo, S.Q., Goel, A.K. (1989). Down syndrome: Clinical review of ocular features. Clin. Pediatr. (Phila), 28(8), 355-358.

Catalano, R.A. (1990). Down syndrome. Surv. Ophthalmol., 34(5), 385-398.

Cregg, M., Woodhouse, J.M., Pakeman, V.H., Saunders, K.J., Gunter, H.L., Parker, M., Fraser, W.I., Sastry, P. (2001). Accommodation and refractive error in children with Down syndrome: Cross-sectional and longitudinal studies. Invest. Ophthalmol. Vis. Sci., 42, 55-63.

Cregg, M., Woodhouse, J.M., Stewart, R.E., Pakeman, V.H., Bromham, N.R., Gunter, H.L., Trojanowska, L., Parker, M., Fraser, W.I. (2003). Development of refractive error and strabismus in children with Down syndrome. Invest. Ophthalmol. Vis. Sci., 44 (3), 1023-1030.

Dobson, V., Fulton, A.B., Sebris, S.L. (1984). Cycloplegic refractions of infants and young children: The axis of astigmatism. Invest. Ophthalmol. Vis. Sci., 25, 83-87.

Doyle, S.J., Bullock, J., Gray, C., Spencer, A., Cunningham, C. (1998). Emmetropisation, axial length, and corneal topography in teenagers with Down's syndrome. Brit. J. Ophthalmol., 82, 793-796.

Ehrlich, D.L., Atkinson, J., Braddick, O., Bobier, W., Durden, K. (1995). Reduction of infant myopia: A longitudinal cycloplegic study. Vision. Res., 35, 1313-1324.

Flom, M.C., Bedell, H.E. (1985). Identifying amblyopia using associated conditions, acuity, and non-acuity features. Amer. J. Optom. Physiol. Opt., 62, 153-160.

Gwiazda, J., Scheiman, M., Mohindra, I., Held, R. (1984). Astigmatism in children: Changes in axis and amount from birth to six years. Invest. Ophthalmol. Vis. Sci., 25, 88-92.

Gwiazda, J., Thorn, F., Bauer, J., Held, R. (1993). Emmetropization and the progression of manifest refraction in children followed from infancy to puberty. Clin. Vis. Sci., 8, 337-344.

Haugen, O.H., Høvding, G., Lundström, I. (2001). Refractive development in children with Down's syndrome: A population based, longitudinal study. Brit. J. Ophthalmol., 85, 714-719.

Hernandez, D., Fisher, E.M.C. (1996). Down syndrome genetics: Unravelling a multifactorial disorder. Hum. Mol. Gen., 5(7), 1411-1416.

Ingram, R.M., Barr, A. (1979). Changes in refraction between the ages of one and three and a half years. Brit. J. Ophthalmol., 63, 339-342.

Pires da Cunha, R., Belmiro, de Castro, Moreira, J. (1996). Ocular findings in Down's syndrome. Amer. J. Ophthalmol., 122, 236-244.

Roizen, N.J., Mets, M.B., Blondis, T.A. (1994). Ophthalmic disorders in children with Down syndrome. Dev. Med. Child. Neurol. 36(7), 594-600.

Saunders, K.J., Woodhouse, J.M., Westell, C.A. (1995). Emmetropisation in human infancy: Rate of change is related to initial refractive error. Vision. Res., 35, 1325-1328.

Stephen, E., Dickson, J., Kindley, A.D., Scott, C.C., Charleton, P.M. (2007). Surveillance of vision and ocular disorders in children with Down syndrome. Dev. Med. Child. Neurol., 49(7), 513-515.

Woodhouse, J.M., Pakeman, V.H., Cregg, M., Saunders, K.J., Parker, M., Fraser, W.I., Sastry, P., Lobo, S. (1997). Refractive errors in young children with Down syndrome. Optom. Vis. Sci. 74, 844-851.

Journal Information

CiteScore 2017: 0.22

SCImago Journal Rank (SJR) 2017: 0.127
Source Normalized Impact per Paper (SNIP) 2017: 0.211

Metrics

All Time Past Year Past 30 Days
Abstract Views 0 0 0
Full Text Views 214 212 37
PDF Downloads 52 52 3