Cataracts 43

Background and History: 

In the normal condition, the lens of the eye is clear and transparent and serves to focus light on the retina.  However, whenever there is an opacity, no matter the appearance or the density in the lens, it is called a cataract. Vision is usually but not always reduced.  There are many kinds of cataract and many causes.  Some are secondary to trauma, some caused by infectious diseases, and some are part of other eye diseases.  However, a large number are the result of gene changes (mutations) such as the one described here.

Clinical Correlations: 

Cataract 43 is an arbitrary title applied to this type of cataract. It is an isolated, but hereditary type of lens opacity meaning that it occurs without other ocular or systemic abnormalities.  It has been reported in 9 individuals belonging to a single, three generation Danish family.

The clinical features are largely unknown since most individuals already had cataract surgery when the family was first studied.  The lens opacities were diagnosed between the ages of 6 and 45.  They were probably slow growing since cataracts were diagnosed in one individual at the age of 18 years but were not operated upon until the age of 45.


A single gene change (mutation) seems to be responsible for this condition.  The transmission pattern follows an autosomal dominant pattern in which affected parents confer a 50% chance to each child to inherit this cataract.

Diagnosis and Prognosis: 

The diagnosis will be made by an eye doctor after an eye exam.  It is doubtful that the lens opacity can be seen without dilating the pupil of the eye and thus it is important that newborns and young children have complete eye examinations.

The prognosis for vision is excellent if visually significant cataracts are removed.  This surgical procedure is especially important for young children in the first decade of life to prevent amblyopia (lazy eye).  For adults, cataract surgery is not necessary unless the opacities are sufficiently dense to interfere with vision.

Additional Information
Autosomal dominant