Cataracts, Congenital, Intellectual Disability, Abnormal Striatum, and ADHD

Background and History: 

This is a newly described condition so far described in four members of a single family with early-onset cataracts and neurological deficits.

Clinical Correlations: 

Cataracts are present early in the first decade of life and may be present at birth.  Children have significant developmental delays.  Growth is slow, speech develops late, and motor skills are delayed.  Speech is delayed and often slurred.  The limbs are stiff due to spasticity.  Movements may be jerky.  Measured IQ is in the range of 77-89.  MRIs of the brain reveal maldevelopment of specific structures at the base of the brain.


This is an autosomal recessive condition resulting from changes (mutations) in both members of a specific pair of genes.  The parents are clinically normal even though they each carry a mutation in one member of the pair.  Such parents confer a risk of 25% to each child to inherit both members of the mutated pair

Diagnosis and Prognosis: 

Neurologists, ophthalmologists, and pediatricians along with other specialists may collaborate on the diagnosis and care of individuals who inherit this disorder.  There is no treatment and these patients require lifelong support and care.  They may benefit from special education and physical therapy.  Nothing is known regarding longevity.

Additional Information
Autosomal recessive