ACTA FAC MED NAISS 2007; 24 (4): 223-227 |
Case report
NEUROFIBROMATOSIS 1 IN TWINS - A CASE REPORT
Gordana
Stankovic-Babic
Vesna Kostovska
Jasmina Djordjevic-Jocic
Milena Vujanovic
Ophthalmology Clinic Clinical Center in Nis
SUMMARY
Von Recklinghausen's
neurofibromatosis (NF-1) is the most common form of neurofibromatosis,
accounting for 90% of cases. It is inherited in an autosomal dominant fashion
and has the prevalence between 1 per 3000 and 1 per 5000, making it one of the
most common autosomal dominant conditions in humans.
The paper reports a case of twins with neurofibromatosis-1 and anisomyopia with
amblyopia in one of the children. Considering the poor sight due to anisomyopia
in the examined twins, neurofibromatosis-1 was also discovered.
Ophthalmic examination is an essential part of the screening process.
Key words: neurofibromatosis (NF- 1), twins