Cataract and Ichthyosis

Background and History: 

The status of this condition as a unique entity is not established.  Cataracts (cloudiness of the lens in the eye) occur in many conditions and often are associated with inherited syndromes.  The most common cataract is associated with aging.  Several types of ichthyosis (roughness or scaliness of the skin) are known and some of these are inherited.

Clinical Correlations: 

Little clinical information is available.  The nature of the lens opacities (cloudiness) is not specific to this condition.  There are multiple forms of ichthyosis which result in roughness or scaliness of the skin but in the reported families the exact nature of this is unknown.


Only three families in which members had some combination of ichthyosis and cataracts have been reported.  It seems to be heritable because multiple members of several sibships were affected.  However, no gene mutation has been found and the family patterns of those affected are not sufficiently informative to determine the mode of inheritance.

Diagnosis and Prognosis: 

Dermatologists and ophthalmologists are likely to collaborate in the diagnosis and treatment of this disorder.  Treatments for the skin and cataracts have not been reported.  There is no evidence that life expectancy is reduced.

Additional Information
Autosomal recessive