Researchers Discover First Genetic Disease Transmitted Through In Vitro Fertilization

For the first time, researchers have documented the transmission of disease through in vitro fertilization.

A study conducted by researchers at Baylor College of Medicine has determined that ocular albinism, a genetic disorder that reduces vision clarity, was passed on to a child through an egg-donor pregnancy. The study is published in the December 1998 edition of Fertility and Sterility.

"Ocular albinism results in a decrease of pigmentation in the eye and, in some, can lead to reduced visual acuity to the point where the patient is legally blind," says Dr. Richard Lewis, professor of ophthalmology at Baylor and lead investigator for the study. "While the egg donor was screened through guidelines established by the American College of Obstetrics and Gynecology, the process was not detailed enough to identify this disorder."

Eggs from the donor in the study resulted in pregnancies in three women and the birth of four children, three of them girls. Parents of the lone infant boy became concerned about their son's shifting eyes and poor visual attentiveness at 2 months of age. He was later diagnosed with X-linked ocular albinism, a disease that impacts males exclusively.

The three girls, although free of disease themselves, are carriers and could pass the genetic mutation on through childbirth.

"Most males with this disease are able to function without too many limitations," says Dr. Lewis.

The major handicap is driving. Vision might not be clear enough to drive or patients might be able to drive during daylight hours only.

"This case underscores the need for extremely thorough screening of women accepted into egg-donor programs," says Dr. Lewis.

The study, which also involved researchers at The University of Texas Health Science Center at San Antonio, was funded by Research To Prevent Blindness and the Telethon Institute of Genetics and Medicine in Milan, Italy.

---

©2006 Texas Medical Center

---

E-Mail: tmc-info@tmc.edu
URL: http://www.tmc.edu/tmcnews/12_15_98/page_06.html