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K. A. Drenser, A. Vinikar, W. Dailey, M. T. Trese, A. Capone, Jr.; Aggressive Posterior Retinopathy of Prematurity. Invest. Ophthalmol. Vis. Sci. 2008;49(13):1388.
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We evaluated 17 infants with aggressive posterior retinopathy of prematurity (APROP) for mutations in the FZD4 gene and compared them to 31 eyes which developed classic ROP requiring treatment.
Children with pediatric vitreoretinopathies, including ROP, were entered into a database. The database includes clinical presentation, family history, fundus photos, OCT, and peripheral blood. Infants diagnosed with ROP were selected for this subgroup analysis. A total of 48 infants with ROP were included and 17 of these infants had APROP with zone 1 disease requiring treatment by ETROP criteria. The genomic DNA was obtained from peripheral blood. Genetic analysis was performed using PCR and direct sequencing of the coding regions of the FZD4 gene.
A total of 48 infants with stage 3 or greater ROP underwent genetic analysis. Seventeen of these children were identified as having APROP. Two of 17 (12%) infants with APROP were found to have a compound heterozygous mutation in the FZD4 gene (P33S; P168S). One infant, out of 31 (3%), with classic ROP was found to have this same compound mutation. This equals an odds ratio of 4.41 for this mutation and the development of APROP.
The compound heterozygous mutation in the FZD4 gene may be a predisposing factor to the development of a more aggressive form of ROP.
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