Purpose: To report a rare case of serous macular detachment associated with optic nerve coloboma in a patient with genetically confirmed papillorenal syndrome, successfully treated with human amniotic membrane transplantation (hAMT) without endotamponade after the failure of initial surgery with inverted internal limiting membrane (ILM) flap. Observations: A 21-year-old woman with a confirmed PAX2 gene variant presented with progressive visual decline in the left eye due to serous macular detachment associated with optic nerve coloboma. Initial management with pars plana vitrectomy (PPV), foveal-sparing ILM peeling, and inverted ILM flap placement over the optic nerve failed to achieve reattachment. A second surgery involving placement of a human amniotic membrane graft without endotamponade led to gradual reabsorption of subretinal fluid and complete anatomical restoration. At one-year follow-up, best-corrected visual acuity improved from 20/100 to 20/70. Conclusions: This case suggests that hAMT without endotamponade may be a viable option for managing serous macular detachment in the setting of congenital optic nerve anomalies. Despite the unsuccessful outcome of inverted ILM flap technique, hAMT promoted retinal reattachment and functional improvement over time. The delayed recovery observed may reflect postoperative changes in intraocular fluid dynamics influencing fluid reabsorption.
Amniotic membrane placement without endotamponade for optic nerve coloboma with extensive serous retinal detachment in papillorenal syndrome: A case report
Govetto, Andrea;
2025-01-01
Abstract
Purpose: To report a rare case of serous macular detachment associated with optic nerve coloboma in a patient with genetically confirmed papillorenal syndrome, successfully treated with human amniotic membrane transplantation (hAMT) without endotamponade after the failure of initial surgery with inverted internal limiting membrane (ILM) flap. Observations: A 21-year-old woman with a confirmed PAX2 gene variant presented with progressive visual decline in the left eye due to serous macular detachment associated with optic nerve coloboma. Initial management with pars plana vitrectomy (PPV), foveal-sparing ILM peeling, and inverted ILM flap placement over the optic nerve failed to achieve reattachment. A second surgery involving placement of a human amniotic membrane graft without endotamponade led to gradual reabsorption of subretinal fluid and complete anatomical restoration. At one-year follow-up, best-corrected visual acuity improved from 20/100 to 20/70. Conclusions: This case suggests that hAMT without endotamponade may be a viable option for managing serous macular detachment in the setting of congenital optic nerve anomalies. Despite the unsuccessful outcome of inverted ILM flap technique, hAMT promoted retinal reattachment and functional improvement over time. The delayed recovery observed may reflect postoperative changes in intraocular fluid dynamics influencing fluid reabsorption.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.


