Female carriers of Lowe Syndrome are known to have a series of “lenticular opacities” arranged in clustered wedge-like patterns in the eye. These opacities can only be viewed under slit lamp examination. Before the advent of DNA analysis and the enzyme deficiency testing, this eye examination was the only thing available.
Observation and research has shown that most female carriers will begin to show lenticular opacities in the eyes at around the age of puberty. These opacities are visible under slit lamp examination. The presence of these specific opacities, especially where there is a strong family history of Lowe Syndrome, can be used to determine whether a person is a Lowe Syndrome carrier. In some cases, some female carriers also have a dense central posterior lens opacity apparent early in life. This opacity if present, will not diminish or go away over time.
The LSA strongly advises that eye examinations for the purpose of determining genetic carrier status be performed only by trained and experienced ophthalmologists who are familiar with the occasionally subtle and very variable features in the lens of the eye. We suggest your ophthalmologist review the images below before performing the slit lamp examination. Each thumbnail image can be enlarged to a high resolution printable image.
These slides have been graciously provided by Dr. Richard A. Lewis, M.D. of the Baylor College of Medicine. For more information, please contact Dr. Lewis at the following address.
RICHARD A. LEWIS, M.D.
Cullen Eye Institute NC-206
Baylor College of Medicine
1 Baylor Plaza
Houston, TX 77030
The following thumbnails and full-size images are copyrighted by the Baylor College of Medicine.