Cataracts, Congenital, with Intellectual Disability

Clinical Characteristics
Ocular 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.


This 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.

Autosomal recessive
Treatment Options: 

Surgical removal of the cataracts should be considered when visually significant.  Special education might be helpful as learning difficulties have been noted.

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