Choroidal neovascularization associated with butterfly-shaped pattern dystrophy - a case report

Area of Science:

• Ophthalmology and genetics, focusing on inherited retinal diseases.
• Retinal imaging and diagnostics, including OCTA, FAF, and FFA.
• Vascular complications of retinal dystrophies.

Background:

• Pattern dystrophies (PDs) are autosomal dominant macular diseases characterized by lipofuscin deposition in the retinal pigment epithelium (RPE).
• PDs can lead to significant vision loss, geographic atrophy (GA), and choroidal neovascularization (CNV), often misdiagnosed as age-related macular degeneration (AMD).
• Limited data exists on CNV associated with butterfly-shaped PDs and its treatment outcomes.

Observation:

• A 66-year-old patient presented with an 8-month history of vision loss in the right eye (RE).
• Initial best corrected visual acuity (BCVA) in the RE was 0.6.
• Diagnostic imaging (OCTA, FAF, FFA) revealed butterfly-shaped PD in both eyes with CNV in the RE.

Findings:

• The patient received three intravitreal anti-vascular endothelial growth factor (anti-VEGF) injections (ranibizumab) at six-week intervals.
• Following treatment, the BCVA in the RE improved to 0.7 and remained stable over a two-year observation period.
• This demonstrates a positive response to ranibizumab therapy in managing CNV secondary to butterfly-shaped PD.

Implications:

• This case contributes valuable data on the management of CNV in butterfly-shaped PD, a rare condition.
• Intravitreal anti-VEGF therapy, specifically ranibizumab, appears effective in improving and stabilizing vision in such cases.
• Highlights the importance of accurate diagnosis to differentiate PD from AMD and guide appropriate treatment strategies.