Case Report: Alagille Syndrome Presenting with Angioid Streaks

Area of Science:

• Ophthalmology
• Genetics
• Internal Medicine

Background:

• Alagille syndrome is a rare genetic disorder affecting multiple organs, including the liver and heart.
• Ophthalmic manifestations are common in Alagille syndrome, though typically benign.
• Late diagnosis is frequent, underscoring the importance of comprehensive eye examinations.

Observation:

• A 32-year-old woman with Alagille syndrome experienced vision loss in her left eye.
• The cause was identified as choroidal neovascularization secondary to angioid streaks.
• The patient underwent treatment with intravitreal ranibizumab, resulting in a macular scar.

Findings:

• This case report details the first instance of angioid streaks and choroidal neovascularization in Alagille syndrome.
• The complication led to significant vision loss.
• The same complication recurred in the fellow eye and was treated similarly.

Implications:

• Ophthalmological findings can aid in the early diagnosis of Alagille syndrome.
• Angioid streaks and choroidal neovascularization represent a rare but severe ophthalmic complication of Alagille syndrome.
• This case highlights the need for vigilant monitoring of visual health in patients with Alagille syndrome.