Misdiagnosis Of Corneal Dystrophies In Children: A 10-Year Experience
Published 2023 - 41st Congress of the ESCRS
Reference: PO0751 | Type: Free paper | DOI: 10.82333/4rja-bv39
Authors: Elena Franco* 1 , Hannah L Scanga 2 , Kelly N Tripi 2 , Ken K Nischal 3
1Division of Paediatric Ophthalmology, Strabismus, and Adult Motility,UPMC,Pittsburgh,United States;Department of Translational Medicine,University of Ferrara,Ferrara,Italy;Department of Biomedical and Surgical-Specialized Sciences, Ophthalmology Unit,University of Ferrara,Ferrara,Italy, 2Division of Paediatric Ophthalmology, Strabismus, and Adult Motility,UPMC,Pittsburgh,United States, 3Division of Paediatric Ophthalmology, Strabismus, and Adult Motility,UPMC,Pittsburgh,United States;Department of Ophthalmology, University of Pittsburgh School of Medicine,UPMC,Pittsburgh,United States
Purpose
To describe the clinical presentation of corneal dystrophies (CD) in children and to identify the rate of misdiagnosis.
Setting
Tertiary pediatric corneal practice at the Division of Pediatric Ophthalmology, Strabismus, and Adult Motility, UPMC Children’s Hospital of Pittsburgh (PA, USA).
Methods
This retrospective single-center cohort study included 40 children, whose charts contained the term “corneal dystrophy”, and who were referred from April 2012 to November 2022. The following data were collected: presenting age, gender, reason for referral, duration of symptoms and diagnoses given before presentation, visual acuity, refractive error, color vision, slit-lamp examination findings, corneal thickness, endothelial cell count, intraocular pressure, coexisting ocular and systemic diseases, family member(s) examined and affected, family history, molecular reports, imaging, and surgical interventions performed. The main outcome measures were slit-lamp examination findings and the rate of misdiagnosis.
Results
Of the 40, 36 patients were confirmed as having CD either based on clinical findings, family history, or molecular diagnosis; 23 of these patients (64%) were misdiagnosed before presentation. Three patients had Epithelial Recurrent Erosion Dystrophy, 2 Epithelial Basement Membrane Dystrophy, 1 Meesman CD, 6 TGFBI dystrophy, 1 Central Corneal Clouding of Francois, 1 Macular CD, 1 Lisch Epithelial CD, 14 Posterior Polymorphous CD, 3 Fuchs Endothelial CD, 3 Congenital Hereditary Endothelial Dystrophy, and 1 X-linked Endothelial CD. One patient was diagnosed with mucopolysaccharidosis type 1, and 3 with mitochondrial diseases. Molecular testing was performed in 27 children and resulted conclusive in 13 (48%), of which 9 with CD.
Conclusions
Misdiagnosis or delayed diagnosis of CD in children was common, likely because the early presentation of CD is not typically represented in the literature or textbooks. Imaging testing and molecular evaluation helped to obtain the correct diagnosis.