Successful Surgical Management of Bilateral Tractional Retinal Detachments in a Neonate With a KIF11 Mutation.

Abstract

Purpose: To report a rare case of bilateral tractional retinal detachments (TRDs) in an infant with a pathogenic KIF11 mutation, describe the surgical management, and evaluate the anatomic and neurodevelopmental outcomes over 2 years of follow-up.

Methods: A single case was reviewed.

Results: A female neonate with microcephaly and bilateral TRDs diagnosed on day 2 of life underwent bilateral pars plana vitrectomy and lensectomy at 3 weeks of age. This represents one of the earliest and most severe presentations of KIF11-related retinopathy documented to date and one of the earliest reported surgical interventions for this condition. The retinas remained attached at 2 years of follow-up, and the patient demonstrated favorable neurodevelopmental progress, including motor development.

Conclusions: Early surgical intervention resulted in a favorable anatomic outcome in this infant with severe KIF11-related retinopathy. Prompt restoration of visual input during a critical neurodevelopmental window may have contributed to favorable motor development. However, further studies are required to determine whether early visual rehabilitation influences neurodevelopmental outcomes in this condition.