How Common Is Ocular Albinism In Females & Does It Affect Life Span?

Ocular albinism is a genetic disorder in which the eyes ensue deficiency with melanin pigment, while the skin and hair show regular or near-normal pigmentation. This pigment deficiency in the retina leads to several ocular complications.

Nearly every person who has the most widespread pattern, called type 1 or Nettleship-Falls, are men. Almost 1 in 50,000 men suffer from this condition. Other kinds of ocular albinism (type 2, type 3 & type 4) are less frequent. Both parentages transmit the DNA segment for it, and both sons and daughters can be congenital with it.

How Common Is Ocular Albinism In Females?

How Common Is Ocular Albinism In Females?

Ocular albinism type I (OA1), or X-linked ocular albinism, is one of the prevalent disorders of ocular albinism. Typically, it is a genetic disorder characterized by optic irregularities in affected men. It severely damages the astuteness of images (visual acuity) and complications with merging vision from both eyes to have a clear vision.

Even though the vision loss is inevitable and lasting, yet it does not deteriorate over time. Other eye anomalies related to this disorder involve repetitive, uncontrolled eye movements (nystagmus); cross-eyed in which a person cannot align both eyes simultaneously under normal conditions (strabismus); and increased sensitivity to light (photophobia).1

Men who are affected with this condition have inherited nystagmus but they do not have the added changes usually observed in persons with conventional X-linked ocular albinism involving a decline in retinal coloration and immunological variations. Women transport two X chromosomes, while men transport one X chromosome and one Y chromosome.

Consequently, this infection influences predominantly males, who require just one X chromosome with the albinism gene to reveal the disorder. Women with the albinism protein sequence on one of their two X chromosomes might be a protein sequence transporter.

Therefore, female carriers appear to be unaffected. Females have been affected in rare instances. Women with one transmuted version of the genetic material typically do not have sight failure or other substantial vision anomalies. They may have slight differences in retinal coloration that can be identified in an eye test.

Therapy involves visual alteration with glasses or contact lenses; make use of sunglasses or specific percolate eyeglasses for light sensitivity; and in certain instances, extraocular tissue surgical treatment to repair orientation or enhance head posture that is correlated with nystagmus. More studies are required to be performed to comprehend how transformations in the same DNA can cause various effects.2,3

Does Ocular Albinism Affect Life Span?

There is no cure for ocular albinism. Treatment is aimed to ease the symptoms which involve visual rehabilitation, or the prescription of tinted lenses. Albinos can live a normal life span and usually don’t affect the life span; however, some forms of albinism can be life-threatening.

The lives of people with Hermansky-Pudlak(an extremely rare autosomal recessive disorder which results in oculocutaneous albinism often resulting in bleeding problems due to blood plasma abnormality) syndrome can be shortened due to lung disease or bleeding problems. Individuals in tropical nations who do not use skin protection may obtain serious dermatitis tumors.

Although, medical survey suggests people with ocular albinism are just like everyone else with a similar lifespan and have the ability to reach the goals, yet their living conditions become difficult. The societal environment can be more about suiting in than standing out, adolescents with albinism may encounter harassment or discrimination.

Expressing any annoyance or grief to a family member or buddy who understands your problem can support. You can even talk to a psychotherapist or psychiatrist to gain inputs on handling the difficulties that arise during their adolescent age.4,5

References:

  1. How Ocular Albinism Affects the Eyes – WebMD https://www.webmd.com/eye-health/what-is-ocular-albinism#1
  2. Ocular albinism – Genetics Home Reference – NIH https://ghr.nlm.nih.gov/condition/ocular-albinism
  3. Ocular Albinism – NORD (National Organization for Rare Diseases https://rarediseases.org/rare-diseases/ocular-albinism/
  4. FAQs – The Albino Foundation https://albinofoundation.org/faqs/
  5. Albinism in life – Albinism Trust – Does albinism affect life span? http://www.albinism.org.nz/wp-content/uploads/2014/11/Albinism-in-life.pdf

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