[Changing perception of hereditary eye diseases].
The authors present the cases of two parents with Usher syndrome type I who appeared to have normal offspring, and two families, one with autosomal dominant retinoblastoma and a RB1-gene mutation and one with primary open angle glaucoma and a myocilin gene mutation, in whom DNA-analysis was used to see whether check-ups were needed. The field of ophthalmogenetics comprises many disorders, both congenital and those with a later onset. Mendelian, mitochondrial, as well as multifactorial heredity is seen. Recent progress in this field, especially in molecular genetics, has created new possibilities, but some situations appear to be more complex than previously assumed. Particularly if there is genetic heterogeneity or multifactorial inheritance, possibilities for counselling and DNA analysis remain limited.
Plomp
A S
AS
Klinisch geneticus, Interuniversitair Oogheelkundig Instituut KNAW, Meibergdreef 47, 1105 BA Amsterdam.
Bergen
A A B
AA
Hulsman
C A A
CA
de Jong
P T V M
PT
D000328:Adult; D004252:DNA Mutational Analysis; D015785:Eye Diseases, Hereditary / Q000175:diagnosis / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005902:Glaucoma, Open-Angle / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010375:Pedigree; D019572:Retinal Neoplasms / Q000175:diagnosis / Q000235:genetics; D012175:Retinoblastoma / Q000175:diagnosis / Q000235:genetics; D016160:Retinoblastoma Protein / Q000235:genetics; D013577:Syndrome; D014129:Trabecular Meshwork
D005136:Eye Proteins; D016160:Retinoblastoma Protein