Author(s): Silva, RG ; Dupont, J ; Silva, E ; Sousa, AB
Date: 2022
Persistent ID: http://hdl.handle.net/10400.17/4479
Origin: Repositório do Centro Hospitalar de Lisboa Central, EPE
Subject(s): Eye Abnormalities*; F-Box Proteins* / genetics; Humans; Intellectual Disability* / genetics; Muscle Hypotonia; Optic Nerve Hypoplasia*; Phenotype; Protein-Arginine N-Methyltransferases / genetics; HDE OFT
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) is a recently described autosomal dominant entity caused by pathogenic variants, mostly de novo, in the FBXO11 gene. It presents in the first years of life with highly variable clinical manifestations. The main features of IDDFBA include borderline-to-severe intellectual disability, behavioral problems, hypotonia, facial dysmorphisms, minor skeletal abnormalities, and recurrent infections. Although eye problems, such as refractive errors, eye misalignment and minor visual changes, have been described in about 48% of patients, a major ocular defect, namely, bilateral optic nerve hypoplasia, has been reported in the literature only once. We report an 8-year-old boy with a novel de novo pathogenic variant in FBXO11 gene (NM_001190274.1: c.1166dup, p.Cys390Metfs∗3) and a complex ophthalmological phenotype, consisting of right microphthalmia, very shallow anterior chamber, and persistent pupillary membrane, right dense nuclear cataract, bilateral optic nerve hypoplasia, and bilateral horizontal manifest nystagmus.
