Details

Autor(en) / Beteiligte

• MOORE, A. T
• MAHER, E. R
• ROSEN, P
• GREGOR, Z
• BIRD, A. C

Titel

Ophthalmological screening for von Hippel-Lindau disease

Ist Teil von

• Eye (London), 1991, Vol.5 (6), p.723-728

Ort / Verlag

Basingstoke: Nature Publishing Group

Erscheinungsjahr

1991

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• Forty seven individuals (from 16 kindreds) without prior evidence of retinal haemangiomas underwent full ophthalmological assessment as part of a comprehensive screening programme for Von Hippel-Lindau disease. Ten were known to be affected on the basis of non-ocular involvement and 37 were at 50% risk of having the abnormal gene. Seventeen angiomas were detected in 14 individuals (six affected patients and eight at risk relatives). Regular detailed ophthalmological assessment is important for all patients with von Hippel-Lindau disease and for relatives at risk of inheriting the abnormal gene.