Genetic and Metabolic Eye DiseaseMorton F. Goldberg |
Contents
The Carrier State | 3 |
Severe Visual Handicap | 19 |
Twin Heritability Study | 37 |
Copyright | |
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abnormal accumulation acid affected anomalies appear Arch associated autosomal autosomal dominant autosomal recessive bilateral biochemical birth blindness blood carrier cataract cause cells central changes Chap chemical choroidal chromosome clinical common condition congenital corneal cultured defect deficiency degeneration demonstrated described determined diagnosis differential disease disorder Down's syndrome dystrophy early enzyme epithelium examination factors fibroblasts Figure findings frequently function fundus gene genetic glaucoma glucose hereditary human increased individuals inherited involved known lens lesions levels macular manifestations membrane ment mental method nerve normal observed occur ocular opacities Ophthalmol optic atrophy parents pathology patients percent pigment possible posterior present primary probably progressive rare relatively reported response result retinal retinoblastoma seen severe similar skin specific storage stroma studies suggested syndrome systemic Table tion tissue trait twins usually vision visual X-linked