All mammals and even plants can develop albinism, an ailment that delivers individuals a sort of pale exterior. But what is albinism and what causes it?
Albinism is a genetic condition where individuals have an absence of color in the hair, skin, or iris of the eye, or lighter than normal skin and hair. Their bodies can’t make the required levels of melanin, the pigment that is responsible for coloration.
Albinism can be identified by examination of main or complete lacking coloration of the skin, hair, and eyes. Several tests aid and involved in the analysis of ocular albinism.
The key consequences of X linked ocular albinism are nystagmus, diminished visual insight, refractive mistakes, strabismus, iris transparency, fundus hypopigmentation, and foveal hypoplasia however additional ocular anomalies such as posterior embryotoxon, Axenfeld’s irregularity, and visual disc hypoplasia have also been defined.
Can Albinism Be Detected Before Birth?
Most cases of albinism are diagnosed in newborns. Your health care provider often assesses the lack of melanin in the hair and skin in comparison to their unaffected siblings, parents or other ethnic groups of their parents.1 But what is the prenatal diagnosis?
What Is The Prenatal Diagnosis?
Doctors recommend some prenatal tests which consist of prenatal screening and prenatal diagnosis, a typical aspect for prenatal care for all pregnant women. Only some women will need other screening tests to check for certain genetic disorders that may affect an unborn child.
The prenatal diagnosis is predominantly carried out to provide pregnant mothers with the preference to maintain or have a cessation of gestation in the setting of a known analysis of a serious genetic skin disorder.
Especially albinism affected parents seek genetic counseling and prenatal diagnosis as preventive measures. Until lately, prenatal diagnosis of ocular albinism Type I was accomplished by histologic and electron microscopic study of fetal membrane cultures. Recently, a molecular genomic method has become feasible by the detection of the two mutated copies of the TYR genetic material, coding the tyrosinase, in which over 50 mutations have been discovered.
Clinical studies were carried out on a large cohort of Israeli families (nearly 75 prenatal tests on 45 families). The test results showed that TYR mutations were identified in more than 35 families, and P mutations were found in more than 5 families. Based on these results, the mothers opted either to continue or terminate their pregnancy.
Basically, families with enhanced probability for an albino child with serious visual handicap sought prenatal hereditary diagnosis and analysis in order to avoid an affected offspring.2,3
Can Using Glasses Cure Ocular Albinism?
With ocular albinism, the fovea does not develop entirely, because melanin pigment is necessary for the development procedures that typically arise before birth. Because the fovea (this sensitive nerve tissue in the retina) does not develop normally, it is difficult to correct vision completely with glasses or contact lenses, because the film in the camera is incompetent of getting a perfect image and broadcasting it to the neurons.
However, glasses with prisms can decrease nystagmus and treat strabismus. They are just as plus lenses and can be helpful for nystagmus patients whose vision is suppressed by viewing a near target. In addition, bifocal eyeglasses recommended reading glasses, and contact lenses can assist with a vision for individuals with ocular albinism. Several individuals also prefer using handheld magnifiers.
Medical studies indicate that when you have the indoor lighting behind the shoulder instead of in front, the affected people have better visible in viewing objects.4,5
- Prenatal diagnosis of oculocutaneous albinism type I: review https://www.ncbi.nlm.nih.gov/pubmed/10441617
- Can You Detect Albinism? | HowStuffWorks https://health.howstuffworks.com/skin-care/problems/medical/albinism3.htm
- Prenatal Molecular Diagnosis of Oculocutaneous Albinism (OCA) in a Large Cohort of Israeli Families https://iovs.arvojournals.org/article.aspx?articleid=2145946
- Do glasses help people with ocular albinism? – WebMD https://www.webmd.com/eye-health/qa/do-glasses-help-people-with-ocular-albinism
- Learn about Ocular Albinism | National Organization for Albinism and Hypopigmentation https://www.albinism.org/information-bulletin-ocular-albinism/
- Ocular Albinism: Signs, Symptoms, Treatment- Glasses, Contact Lenses, LASIK Surgery
- What Causes Albinism and What Are The Presenting Features Of It?
- Can Ocular Albinism Go Away On Its Own & What Are Its Natural Remedies?
- Is Ocular Albinism A Serious Condition & Can It Be Reversed?
- Does Ocular Albinism Cause Red Eyes & What To Do About It?
- How Common Is Ocular Albinism In Females & Does It Affect Life Span?