P440: Clinical spectrum of autosomal recessive spliceosomal gene CWC27 variants

Conclusion: GDLD is a rare, autosomal recessive condition that should be considered in cases of unilateral or asymmetrical corneal opacity with amyloid deposits.Introduction: Gelatinous drop-like corneal dystrophy (GDLD) is an autosomal recessive condition characterized by subepithelial and stromal amyloid deposition leading to corneal opacity that is typically bilateral.Recurrence is common despite intervention and visual acuity is significantly reduced by the third decade of life.Maeno et al. (2022), described an individual with GDLD with unilateral, recurring, corneal opacity with an asymptomatic second eye.Case Presentation: A 7-year-old female was referred to Wills Eye Cornea service for corneal clouding of the left eye, associated with light sensitivity and discomfort.Due to unilateral presentation and history of frequent cold sores, she was treated by the pediatric ophthalmologist with Acyclovir for presumed herpes simplex virus 1 (HSV) keratitis.External exam revealed mild blepharitis and mild papillae in the inferior palpebral conjunctiva of both eyes.Corneal examination of the right eye was unremarkable.Corneal examination of the left eye was significant for a 4mm v x 3.5mm area of anterior stromal scarring and haze with overlying irregular epithelium, which showed punctate staining with fluorescein.No definitive dendritic lesions were noted.The posterior exam of both eyes was unremarkable.Diagnostic Workup: Histopathologic evaluation of superficial keratectomy revealed subepithelial amyloid deposition.Primary systemic amyloidosis evaluation was completed with a pediatric nephrologist and cardiologist and was unrevealing.Genetic testing was completed via a next generation sequencing multigene panel for corneal dystrophy and revealed a homozygous likely pathogenic variant in TACSTD2 (NM_002353.2):