Overview

Diagnosis Overview

Historically, the diagnosis of Lowe syndrome in a potentially affect male was usually made by a geneticist (a physician specifically trained in genetics). In many cases however, there are few initial clues (symptoms) to assist in diagnosis. For example, a number of the symptoms of Lowe Syndrome may not manifest themselves until a later age.

Today we have a number of highly accurate diagnostic techniques available. The section will help you understand those techniques and when they are applicable. We will discuss the methods for both post-natal and pre-natal situations. In general, we have the following diagnostic techniques available to us.

Diagnostic Method	Description
Clinical Diagnosis	Since clinical diagnosis is not considered accurate by itself, it is usually used as pre-cursor to one of the scientific diagnostic methods available today (Enzyme or DNA analysis). In clinical diagnosis, the known symptoms of Lowe Syndrome are compared to those of an affected male. Family history is also carefully examined, usually with the aid of genetic counselor. Assuming there is a reasonable suspicion of Lowe Syndrome, the child's mother can be examined by a trained ophthalmologist for the tell-tale "snowflake" lenticular opacities.
Enzyme Deficiency Analysis	Scientific research has shown that the X-linked gene mutation that causes Lowe Syndrome leads to a deficiency in the production of a certain enzyme (phosphatidylinositol-4, 5-bisphosphate phosphatase). We can look at the level of this enzyme in a potentially affected male to confirm Lowe Syndrome diagnosis. The enzyme test is done by obtaining a small skin sample, which is cultured and sent to one of the available testing laboratories.
DNA Analysis	Through research, we understand where the defective gene (called OCRL1) is located, and also the specific job it has relating to enzyme production. We are able to perform DNA analysis on a potentially affected male to prove a diagnosis of Lowe Syndrome with approximately a 99% accuracy. DNA analysis can also be used to test for the Lowe Syndrome mutation in potential female carriers.

The actual method(s) used to diagnose Lowe Syndrome will depend on whether it is pre-natal or post-natal situation. The following sections provide more information on the available diagnostic techniques for both post-natal and pre-natal situations.

Potentially Affected Male

The following diagnostic techniques are available for diagnosing a male who may be affected by Lowe Syndrome. The flowchart illustrates the general steps taken to confirm a diagnosis of Lowe Syndrome.

Available Diagnostic Techniques

Diagnostic Flowchart

Diagnosis of potentially affected male

Pre-natal Diagnosis

The following diagnostic techniques are available in pre-natal situations. The flowchart illustrates the general steps taken to confirm a diagnosis of Lowe Syndrome in a fetus.

Available Diagnostic Techniques

Enzyme Deficiency Analysis
Provided the actual gene mutation is known, DNA Analysis can be used effectively for pre-natal diagnosis
Ultrasound examination of the unborn fetus to determine the existence of cataracts. This technique is most useful in situations where there is a strong family history of Lowe Syndrome.

Diagnostic Flowchart

The following flowchart illustrates the general steps taken to confirm a diagnosis of Lowe Syndrome.

Prenatal Diagnosis