[Ocular manifestations in a patient with Cockayne syndrome and simultaneous reduced DNA repair].
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 opacifications, salt and pepper like retinal pigment epithelial changes and optic atrophy. On fibroblast culture the DNA repair activity is usually normal in patients with Cockayne syndrome. The DNA repair activity in our patient however was markedly reduced to 25% of normal. On lymphocyte culture a significantly increased 4-nitroquinoline-1-oxide sensitivity (cytotoxicity and increased break-rate) was found. These findings indicate that the boy has a specific variant of Cockayne syndrome with simultaneously reduced DNA-repair activity.
Lang
G E
GE
Augenklinik mit Poliklinik, Universität Erlangen-Nürnberg.
Gebhart
E
E
Lang
C
C
Naumann
G O
GO
D000293:Adolescent; D003057:Cockayne Syndrome / Q000175:diagnosis / Q000235:genetics*; D003318:Corneal Opacity / Q000175:diagnosis / Q000235:genetics*; D004260:DNA Repair / Q000235:genetics*; D004261:DNA Replication / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D009896:Optic Atrophy / Q000175:diagnosis / Q000235:genetics*; D010857:Pigment Epithelium of Eye / Q000473:pathology; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics*; D012854:Sister Chromatid Exchange / Q000235:genetics; D014983:Xeroderma Pigmentosum / Q000175:diagnosis / Q000235:genetics
Okuläre Befunde bei einem Patienten mit Cockayne-Syndrom und gleichzeitig reduzierter DNA-Reparatur.