Cataracts, Congenital, with Intellectual Disability Clinical CharacteristicsOcular Features: Reported patients have bilateral posterior polar lens opacification, presumably present since birth. No other ocular abnormalities are present. Vision is stated to be normal following early cataract extractions. No glaucoma has been detected while spectral OCT and electrophysiological studies had normal results. Systemic Features: Psychomotor disabilities and developmental delays are present. Walking does not occur until the age of about 2 years and speech is present by 5 years. No dysmorphic features or other organ disease are present. MRI studies of the brain are normal. GeneticsThis is an autosomal recessive disorder resulting from homozygous mutations in the STX3 gene (11q12.1). It has been reported in three children in a consanguineous Tunisian family. Pedigree: Autosomal recessiveTreatmentTreatment Options: Surgical removal of the cataracts should be considered when visually significant. Special education might be helpful as learning difficulties have been noted. ReferencesArticle Title: Autosomal recessive congenital cataract, intellectual disability phenotype linked to STX3 in a consanguineous Tunisian family Chograni M, Alkuraya FS, Ourteni I, Maazoul F, Lariani I, Chaabouni HB. Autosomal recessive congenital cataract, intellectual disability phenotype linked to STX3 in a consanguineous Tunisian family. Clin Genet. 2014 Oct 30. [Epub ahead of print]. PubMed ID: 25358429 Read more about Cataracts, Congenital, with Intellectual Disability
Autosomal recessive congenital cataract, intellectual disability phenotype linked to STX3 in a consanguineous Tunisian family Chograni M, Alkuraya FS, Ourteni I, Maazoul F, Lariani I, Chaabouni HB. Autosomal recessive congenital cataract, intellectual disability phenotype linked to STX3 in a consanguineous Tunisian family. Clin Genet. 2014 Oct 30. [Epub ahead of print]. PubMed ID: 25358429
