Ocular manifestations in female carriers of X-linked disorders.

BACKGROUND

Many X-linked recessive disorders are confined to the eye or have ocular manifestations. It is possible to determine the carrier status of females for some of these disorders through clinical examination, pedigree analysis or clinical laboratory investigation.

METHODS

Examples of carrier manifestations are given for selected X-linked disorders, along with clinical examples in which these manifestations, or lack thereof, have been used in patient management.

RESULTS/CONCLUSIONS: Recognition that females may have manifestations suggestive of the carrier state gives the clinician important additional information for genetic counseling, which consequently allows the patient to make a more informed decision following counseling.