The aim of this study was to study the effectiveness of a motor training program for visually impaired children. 40 children with low vision took part in the study. 20 children (10 boys, 10 girls), mean age 8:9 yr.:mo. (SD= 1:6), were in a Training group and 20 children (10 boys, 10 girls), mean age 8:10 yr.:mo. (SD= 1:65), were in a Home Training group. The Snellen Chart and Bruininks Oseretsky Motor Proficiency Test were used for assessment. Training program included training balance, coordination, strength, visuomotor control, and finger dexterity. Significant differences were found on all skills after training in the Training group, but no significant differences were observed, other than visual motor control, in the Home Training group. Children with low vision have some useable vision and learning to use the available vision depends on proper rehabilitation.
The clinical importance of sequence variations in the ABCA4 gene has been extensively discussed during the last decade. Mutations in the ABCA4 gene are involved in several forms of inherited retinal degenerations. We screened all 50 exons of the ABCA4 gene in a cohort of 5 Stargardt Disease (STGD) and 35 autosomal recessive retinitis pigmentosa (arRP) patients of Turkish descent to assess the nature of ABCA4 mutant alleles in this population. Our results revealed the presence of three novel mutations: c.160T>G (p.C54G), c.2486C>T (p.T829M), and c.973-6C>A; two mutations previously reported, c.634C>T (p.R212C) and c.4253+4C>T, and several polymorphic changes in the ABCA4 gene among Turkish patients affected with Stargardt and arRP. To our knowledge this report represents the first published study of ABCA4 mutations in the Turkish population resulting in STGD.
The aim of this review is to reveal Turkey's current status of medical practice in inherited eye diseases and the necessary steps to improve healthcare services and research activities in this area. Since consanguinity rate is high, disease burden is estimated to be high in Turkey. Universal health insurance system, easily accessible medical specialists, increasing genetic test, and counseling opportunities are the key advantages of Turkey's healthcare system. However, specialized clinics for inherited eye diseases, low-vision rehabilitation services, training of ophthalmologists about the recent developments in ocular genetics, and multidisciplinary translational research are the main headlines needed to be focused for better health services and successful research in Turkey.
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