Article
[Ocular manifestations in a patient with Cockayne syndrome and simultaneous reduced DNA repair].
Klinische Monatsblatter fur Augenheilkunde - 1 Jun 1991
Lang G E, Gebhart E, Lang C, Naumann G O
Abstract excerpt
A 14 year old white boy presented with the typical clinical findings of Cockayne syndrome. Photodermatosis was known since the third week of life. He had disproportionate short stature with a short trunk, long limbs and flexion contractures of the large joints. He also was cachectic and prematurely aged. He had a typical facies. The hearing was slightly impaired. The prominent ocular findings were corneal...
Topics
- Adolescent
- Cockayne Syndrome
- Corneal Opacity
- DNA Repair
- DNA Replication
- Humans
- Male
- Mutation
- Optic Atrophy
- Pigment Epithelium of Eye
- Retinitis Pigmentosa
- Sister Chromatid Exchange