Article
Posthumous diagnosis of X-linked retinoschisis using DNA analysis.
Ophthalmic paediatrics and genetics - 1 Dec 1990
van Schooneveld M J, Bleeker-Wagemakers E M, Orth U, Neugebauer M, Hogenkamp T, Gal A
Abstract excerpt
X-linked juvenile retinoschisis usually results in a rather serious visual handicap in affected males. However, occasionally patients can present with very subtle clinical signs without subjective complaints. For this reason, the family history can be misleading and caution is necessary when anal...
Topics
- DNA
- DNA Probes
- Female
- Genetic Linkage
- Genotype
- Humans
- Male
- Pedigree
- Polymorphism, Restriction Fragment Length
- Retinal Diseases
- Sex Chromosome Aberrations
- X Chromosome