A Thai woman, who was affected with neurofibromatosis type 1, was followed up 
and re-evaluated at ages 45, 61, and 67 years. Her mother and her three brothers 
were also affected. The proposita was very severely affected. She was born blind 
with underdeveloped eyeglobes and had large plexiform neurofibromas on her face. 
Her eyelids were gigantic and tears drained from the orifice between them. 
Cutaneous neurofibromas were observed all over her body. A novel mutation 
c.4821delA was identified in NF1 gene, which predicted truncation of 
neurofibromin (p.Leu1607fs).