Albinism

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Albinism

Albinism

"A group of genetic disorders in which there is partial or total lack of the pegment melanin in the eyes, skin, and hair." (Medicinenet)

genetics.thetech.org3/25/15

What allele mutation causes albism and who is affected?There are 7 main types of albinism. All are inherited at birth.OCA type 1: mutation in the TYR gene; affects all peopleOCA type 2: mutation in the OCA2 gene; "most common in sub-Saharan Africans, African-Americans, and Native Americans" (mayoclinic)OCA type 3: mutation in the TYRP1 gene; common in black South AfricansOCA type 4: mutation in the SLC45A2 gene; mostly found in Japanese and Korean or East Asian descentX-linked Ocular:mutation on the X chromosome; affects mainly malesHermansky-Pudlak: mutation in 1 of at least 8 genes; very common in Puerto RicoChediak-Higashi: mutation in the LYST gene; inherited by families

Signs/Syptoms;"Signs and symptoms of albinism are usually, but not always, apparent in a person's skin, hair and eye color". The most recognizable combination is white hair and pink skin (Mayoclinic)Some Symptoms are• Astigmatism• Photophobia• Nystagmus• Strabismus• Extreme nearsightedness or farsightedness

Detection"The most accurate test for determining the specific type of albnism is a genetic test." (patient.co.uk)According to Mayoclinic,"A complete diagnostic work-up for albinism includes a:• Physical exam• Description of changes in pigmentation• Thorough exam of the eyesComparison of your child's pigmentation to that of other family members"

Coping/Support/AdaptionAccording to MayoClinic,"Adjustments to the classroom that may help your child include:• A seat near the front• A tablet computer that can be synced to an interactive whiteboard • Handouts of all the content written on boards or overhead screens• High-contrast printed documents• Large-print textbooks• Other options, such as showing a child how to enlarge font size on a computer screen.""Despite these gestures, people with albinism still face teasing, stares, well-meaning but ignorant questions, feelings of otherness and isolation, and myths about the condition."(health.howstuffworks) People with Albinism will need to wear sunscreen to beaches and often wear long clothing to avpid sun burns. They will also need to wear glasses to help with their seeing.What support is available for parents?"NOAH’s online albinism community gives you instant access to other parents of children with albinism with our Parents Online Community. Here, you can post a question for other parents, or simply read the concerns, solutions, and stories of other parents of children with albinism.The best way to meet other parents of children with albinism is to come to a NOAH conference. Every two years, NOAH holds a national conference, where people with albinism, their families, and professionals come together to share information, learn from each other’s life stories, and have fun!" (NOAH)

ResearchWhat cures are being tried for albinism?1. According to Sciencedaily.com,"A team of researchers, led by Brian Brooks, at the National Eye Institute, Bethesda, has now generated data in mice that provide hope for a new treatment for a subset of patients with OCA1. Brooks and colleagues found that treating mice that model OCA1 with nitisinone, increases their eye and hair pigmentation. They therefore suggest that nitisinone could improve pigmentation in patients with OCA-1B and potentially ameliorate their vision loss."2. "2.A treatment being studied at UW-Madison could change the prognosis. Ellie is among nine patients who have taken dopamine, a drug for Parkinson’s disease, to see if it improves their vision. 50 participants will be enrolled. Participants take a combination of levodopa, or L-dopa, and carbidopa orally three times a day for three months. They undergo a variety of vision tests. People ages 3 to 80 can participate in the study. If dopamine proves helpful, children are most likely to benefit (host.madison.com)"What jobs should a person interested in genetic mutations look into?1. Genetic counseling; "Genetic counseling is the process of helping people understand and adapt to the medical psychological and familial implications of genetic contributions to a disease." (geneticcounselling.biology.ualberta.ca) They tell parents their chances of having a child with genetic disorders. To do this they look at family history and offer genetic tests, then view the results to see the chance of the baby having a genetic disorder.2. According to genome.gov,"A medical geneticist is trained in general medicine, genetic diagnosis, and the treatment of patients with genetic disorders." They work with genetic nurses and counselors to "develop interventions to minimize the risk and impact of genetic disorders." (genome.gov) They work in hospitals, pharmaceutical companies, and reseach institutes, and most commonly work directly with their patients.

TreatmentTreatment for albinism may include sunglaasses to protect eyes from UV rays, protective clothing and sunscreen, prescription eyeglasses, and surgery on muscles of eyes.

www.parentofachildwithalbinism.com3/27/15

Madison Olson


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