ocular albinism type 1

שלום, רציתי לדעת לגבי המחלה לבקנות אוקולרית האם כיום יש טיפול לסובלים או שמה עליהם להשלים עם המחלה. כמו כן האם כיום נעשה גילוי מוקדם לעובר במידה ויש רקע גנטי?

למורן שלום, אין טיפול המאפשר "החלמה" מהמחלה, אך יש צורך במעקב מדוקדק ומתן משקפיים מתאימים כדי לאפשר התפתחות ראיה טובה ככל האפשר. לעיתים יש מקום לניתוחי פזילה או הנחתת הנסטגמוס. לגבי הגנטיקה- העתקתי לך את הקטע הבא. מקווה שאין בעיה עם האנגלית, (זה קטע המיועד לקריאה על ידי אנשים ללא ידע רפואי). Genetics of Albinism For nearly all types of albinism both parents must carry an albinism gene to have a child with albinism. Because the body has two sets of genes,a person may have normal pigmentation but carry the albinism gene. If a person has one gene for normal pigmentation AND one gene for albinism, he OR she will have enough genetic information to make normal pigment. The albinism gene is "recessive" — it does not result in albinism unless a person has two copies of the gene for albinism AND no copy of the gene that makes normal pigment. When both parents carry the gene, AND neither parent has albinism, there is a one in four chance at each pregnancy that the baby will be born with albinism. This type of inheritance is called autosomal recessive inheritance. (The most common type of ocular albinism follows a different pattern of inheritance. The NOAH Information Bulletin "Ocular Albinism" has more information.) Each parent of a child with oculocutaneous albinism must carry the gene. Both the father AND the mother must carry the gene for albinism. For couples who have not had a child with albinism, there is no simple test to determine whether a person carries a gene for albinism. Researchers have analyzed DNA of people with albinism AND found the changes that cause albinism, but these changes are not always in exactly the same place, even for a given type of albinism. Therefore the tests for the gene may be inconclusive. If parents have had a child with albinism previously, there is a way to test in subsequent pregnancies to see if the fetus has albinism. The test uses amniocentesis (placing a needle into the uterus to draw off fluid). Cells in the fluid are examined to see if they have an albinism gene from each parent. For specific information AND genetics AND testing, seek the advice of a qualified genetic counselor. Genetic counselors are usually associated with universities AND children's hospitals. The National Society of Genetic Counselors at (610) 872-7608 in Philadelphia maintains a referral list. Those considering prenatal testing should be made aware that people with albinism can adapt well to their disabilities, AND lead fulfilling lives. דר. נוימן