An Update on the Ophthalmologic Features in the Phakomatoses

Area of Science:

• Genetics
• Ophthalmology
• Oncology

Background:

• Phakomatoses are hereditary multisystem disorders (Neurofibromatosis type 1, Tuberous Sclerosis Complex, Von Hippel-Lindau disease) characterized by hamartomas with malignant transformation risk.
• Pathophysiogenesis involves tumor suppressor gene alterations.
• Ophthalmic manifestations include Lisch nodules, choroidal nodules, retinal astrocytomas, and retinal capillary hemangiomas.

Purpose of the Study:

• To provide an updated review of phakomatoses.
• To emphasize the role of advanced imaging techniques in diagnosis and surveillance.
• To discuss novel treatment strategies for ophthalmic manifestations.

Main Methods:

• Review of current literature on phakomatoses.
• Focus on advances in imaging technologies like near-infrared reflectance and optical coherence tomography.
• Analysis of treatment modalities, including anti-VEGF therapy.

Main Results:

• Novel imaging techniques offer unprecedented insights into retinal and choroidal features.
• Improved early diagnosis and surveillance are achievable with advanced imaging.
• Anti-VEGF therapy shows varied results in managing retinal hamartomas.

Conclusions:

• Phakomatoses require ongoing surveillance due to malignant transformation risk.
• Advanced imaging is crucial for early detection and management of ophthalmic manifestations.
• Further research into novel treatment strategies is warranted.