[Eye involvement in neurofibromatosis].

Area of Science:

• Genetics
• Oncology
• Neurology

Background:

• Neurofibromatosis 1 (NF1) and Neurofibromatosis 2 (NF2) are inherited disorders.
• They exhibit autosomal dominant inheritance with variable expressivity and diverse clinical presentations.
• Onset is often in early childhood, with significant variations in progression and prognosis.

Purpose of the Study:

• To outline the common and distinct features of NF1 and NF2.
• To emphasize the need for interdisciplinary approaches in managing these conditions.

Main Methods:

• Review of clinical characteristics and genetic patterns of NF1 and NF2.
• Synthesis of information on common dermatological and neurological manifestations.

Main Results:

• Shared features include family history, café au lait macules, freckling, and neural tumors.
• NF1 is associated with neurofibromas and optic gliomas.
• NF2 is characterized by vestibular schwannomas.

Conclusions:

• NF1 and NF2 present with a wide range of phenotypes and variable onset.
• Accurate diagnosis and effective therapy necessitate an interdisciplinary approach.