Vitrectomy and Amniotic Membrane Graft for Retinal Detachment with Macula Hole in a child with Retinal vessels occlusion and MTHFR variant

Author: Wei Wei Lee (Canada)

Co-authors: Rajeev Muni

Purpose

We present the use of an amniotic membrane graft as a scaffold for the repair of a large macula hole and associated retinal detachment in a child with a combined central artery and vein occlusion as the initial presentation of elevated homocysteine and MTHFR C677T variant.

Setting/Venue

The surgery was performed in The Hospital for Sick Children, Toronto, Canada.

Methods

A 14 year-old boy presented with acute vision loss in his right eye. Initial assessment revealed a combined central retinal artery and vein occlusion with extensive retinal hemorrhages and macula edema. He subsequently developed a total retinal detachment with a large full thickness macula hole secondary to severe macular edema. A 23G pars plana vitrectomy with internal limiting membrane peeling was performed. No peripheral retinal breaks were found. An amniotic membrane graft was placed under the macular hole. Air-fluid exchange was performed and silicone oil was injected.

Results

Patient achieved retinal reattachment and macula hole was closed with amniotic membrane in situ. Extensive investigation into the cause revealed a heterozygous mutation (C677T variant) in the methylenetetrahydrofolate reductase (MTHFR) gene and an elevated homocysteine and factor VIII level. Rheumatological and infectious work-up was complete and normal.

Conlusions

The benefits of an amniotic membrane transplant in closing large macular holes has been demonstrated in the past. This case demonstrates that amniotic membrane transplant may be a useful technique for retinal detachment repair of a large macula hole associated retinal detachment to achieve anatomic success. Combination of the heterozygous C677T MTHFR mutation and an elevated homocysteine and factor VIII levels may lead to an increased thrombotic potential and may have resulted in the combined central retinal vein and artery occlusion in an otherwise healthy 14-year-old boy.

Financial Disclosure

None