SR2246

Neurofibromatosis (IIID5b)

Male

Male

SR2246

Neurofibromatosis (IIID5b)

Male

Male

Highlighted Images

Age at visit: 9 years
OD OS

History

This 9 year old male was noted to have some crossing of his eyes at 2 months of age and the eye exam which followed identified a retinal lesion in the right eye. When he was six years old an epiretinal membrane was noted in his left eye. Two years later it was decided that it was a thin hamartoma in that eye as well. He underwent neuroimaging at age 7 which identified bilateral acoustic neuromas.

Pedigree

Age at visit: 4 months
Age at visit: 5 years
Age at visit: 5 years (Visit 2)
Age at visit: 6 years
Age at visit: 7 years
Age at visit: 8 years
Age at visit: 9 years
Age at visit: 10 years
Age at visit: 11 years
Age at visit: 12 years
Age at visit: 13 years
Age at visit: 14 years
Age at visit: 15 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Neurofibromatosis NF2 Trp258 del1tG   AD
Gene:
Allele 1:
Trp258 del1tG
Allele 2:
 
Inheritance:
AD
Cite this case