A Sjöström1, M Kraemer, J Ohlsson, G Villarreal. 1. Queen Silvia 's Hospital for Children, Sahlgrenska University Hospital, Paediatric Eye Unit, Göteborg, Sweden.
Abstract
BACKGROUND: The vision of 12-13-year-olds in Sweden was examined in a field study. The study was designed as being a part of a large European-Latin American study, the DESAMI project. The objective was to evaluate the prevalence of residual amblyopia and ocular disorders, atiologies of subnormal vision and some normal visual parameters in this group of children. The children had to be born in Sweden in 1985 in order to have the opportunity to be included in the voluntary screening visual examinations. The full results of the study will be presented elsewhere. This paper presents clinical and VEP data of those children who had visual acuity of 0.8 or below in one or both eyes which could not be increased with glasses, or other visual/eye disturbances not explained as common amblyopia, i.e., subnormal visual acuity or pathological visual states of unknown cause, SVAS (subnormal visual acuity syndromes). SUBJECTS AND METHODS: In all, 1046 children were examined: 76 had visual disturbances of such severity that they were referred to a paediatric ophthalmologist (AS). Eighteen children could not be pathologically classified, and they were referred to another ophthalmological examination and VEP (visual evoked potential) recordings. VEP reveals an asymmetric response after monocular stimulation in albinism. RESULTS: Twelve children turned up for a second examination and VEP was recorded from 10 children. Nine children showed iris translucency. Seven children showed an asymmetric VEP and were classified as albinos. The albinoic VEPs could be subdivided into two types, (1) including all parts of the response and (2) partly excluding the P1/P100 potential complex. The VEP response was normal, showing symmetry and no other abnormality, in three of the children. CONCLUSIONS: The results indicate that albinism is common in Sweden. A prevalence value of approximately 1% is about 100 times higher than previous figures. This high prevalence may indicate another form of heredity, with genetical contribution to albinism from a varying number of albino genes and varying expression in the phenotypes, in the Scandinavian population. It is emphasised that in investigations of children with SVAS, electrophysiological examinations are important, not only to reveal albinism but also to exclude or verify neurometabolic conditions, for example.
BACKGROUND: The vision of 12-13-year-olds in Sweden was examined in a field study. The study was designed as being a part of a large European-Latin American study, the DESAMI project. The objective was to evaluate the prevalence of residual amblyopia and ocular disorders, atiologies of subnormal vision and some normal visual parameters in this group of children. The children had to be born in Sweden in 1985 in order to have the opportunity to be included in the voluntary screening visual examinations. The full results of the study will be presented elsewhere. This paper presents clinical and VEP data of those children who had visual acuity of 0.8 or below in one or both eyes which could not be increased with glasses, or other visual/eye disturbances not explained as common amblyopia, i.e., subnormal visual acuity or pathological visual states of unknown cause, SVAS (subnormal visual acuity syndromes). SUBJECTS AND METHODS: In all, 1046 children were examined: 76 had visual disturbances of such severity that they were referred to a paediatric ophthalmologist (AS). Eighteen children could not be pathologically classified, and they were referred to another ophthalmological examination and VEP (visual evoked potential) recordings. VEP reveals an asymmetric response after monocular stimulation in albinism. RESULTS: Twelve children turned up for a second examination and VEP was recorded from 10 children. Nine children showed iris translucency. Seven children showed an asymmetric VEP and were classified as albinos. The albinoic VEPs could be subdivided into two types, (1) including all parts of the response and (2) partly excluding the P1/P100 potential complex. The VEP response was normal, showing symmetry and no other abnormality, in three of the children. CONCLUSIONS: The results indicate that albinism is common in Sweden. A prevalence value of approximately 1% is about 100 times higher than previous figures. This high prevalence may indicate another form of heredity, with genetical contribution to albinism from a varying number of albino genes and varying expression in the phenotypes, in the Scandinavian population. It is emphasised that in investigations of children with SVAS, electrophysiological examinations are important, not only to reveal albinism but also to exclude or verify neurometabolic conditions, for example.
Authors: James A Poulter; Musallam Al-Araimi; Ivan Conte; Maria M van Genderen; Eamonn Sheridan; Ian M Carr; David A Parry; Mike Shires; Sabrina Carrella; John Bradbury; Kamron Khan; Phillis Lakeman; Panagiotis I Sergouniotis; Andrew R Webster; Anthony T Moore; Bishwanath Pal; Moin D Mohamed; Anandula Venkataramana; Vedam Ramprasad; Rohit Shetty; Murugan Saktivel; Govindasamy Kumaramanickavel; Alex Tan; David A Mackey; Alex W Hewitt; Sandro Banfi; Manir Ali; Chris F Inglehearn; Carmel Toomes Journal: Am J Hum Genet Date: 2013-11-27 Impact factor: 11.025