Ophthalmologic Examination

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.

Image 1	A direct photograph of the edge of the lens of a carrier female. Notice the size and variability of the small dots, but again clustered in wedges. [enlarge]
Image 2	A slit lamp photograph of the front of a lens of carrier female for Lowe Syndrome. Notice the many small, irregular, punctate spots, clustered in zones or wedges. This characteristic array and organization is the major hallmark of the cataract of a carrier for Lowe Syndrome and is more important than the number of spots or their shape. [enlarge]
Image 3	A slit lamp photograph of the lens of a carrier female for Lowe Syndrome. This picture shows the "red reflex" view in which light reflected off the retina back lights the distribution of the small flecks. Again, notice the radial array where many of the dots are clustered for a clock hour or two in a wedge followed by another clock hour in which there are relatively few dots, followed by yet another cluster. [enlarge]
Image 4	A different "red eye" (retroillumination) view of the lens of a carrier female. This photograph emphasizes again not only the variable size of the small dots, but the clustering in wedges or patches, predominantly in the front part of the lens, and wrapping around the equator into the back part of the lens. [enlarge]
Image 5	A slit lamp photograph of an adult female carrier for Lowe Syndrome shows a round, conical, white plaque in the central portion just inside the back capsule (or shell) of the lens. About 10-15% of carrier females will show this feature in one or both eyes. Usually, the central white dot does not affect vision, although it may progress in adulthood to cause loss of vision and require cataract surgery 10-20 years earlier than the average individual. However, occasional eyes have such a large or dense plaque in the central line of sight that vision acuity is impaired and the girl may have amblyopia ("lazy eye") on that side, requiring cataract surgery even in childhood. [enlarge]
Image 6	A slit lamp photograph of the front of the lens of a female carrier for Lowe Syndrome. The dark gray spot in the center of the picture is the backlit white plaque seen in the image above. More importantly, a myriad of tiny dots are seen scattered throughout the substance of the lens. These tiny dots are the characteristic hallmark of a carrier, but are not necessarily present in young girls. [enlarge]