Article
Anterior Segment Dysgenesis With Accessory Iris Membranes in an Infant With Otopalatodigital Spectrum Disorder and Mutation in the FLNA Gene.
Journal of pediatric ophthalmology and strabismus - 24 Jan 2020
Thieu Tony, Milman Tatyana, Bhatti Tricia R, Eagle Ralph C
Abstract excerpt
A 4-month-old male infant with frontometaphyseal dysplasia and de novo FLNA gene mutation died of complications of disease. Post-mortem examination revealed accessory iris membranes. This is the first report in the literature of accessory iris membranes in a confirmed case of FLNA mutation and phenotypic anomalies consistent with frontometaphyseal dysplasia. [J Pediatr Ophthalmol Strabismus. 2020;57:e8-e11.].
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