Albinism
Albinism, from the Latin albus, meaning “white,” is a group of genetic conditions when decreased or absent melanin in the skin, hair, and eyes produces characteristic pale appearance.
In this article:
Treatment
Vision Correction
After the professional eye exam, an ophthalmologist established the diagnosis of albinism, and evaluated possible vision problems.
Here are the most common vision problems in albino children:
- Photophobia (light sensitivity or the perception of light as brighter than it is) or photodysphoria (discomfort in bright light or extreme photophobia)
- Refractive errors (astigmatism 73%, myopia 24%, hyperopia 3% frequency by one study)
- Involuntary pulsatile horizontal nystagmus: Usually beginning 1.5 to two months after birth when visual acuity starts to sharpen; almost all children develop it by 4 months of age; gradually diminishes in amplitude with age. Postural head changes (such as side gazing) and convergence (like when looking at things very close to the face) damps the nystagmus, and these compensatory maneuvers improve vision and may be some of the earliest indicators of visual deficits. Nystagmus is exacerbated with fatigue, physiological (illness, pain) or psychic stress (anger, anxiety), and monocular vision (covering one eye).
- Strabismus: Misaligned eyes or disconjugate gaze due to misrouted optic nerve fibers at the chiasm, for example, exotropia, esotropia, vertical misalignment
- Reduced stereopsis (fine depth perception) and binocular vision due to strabismus
Treatment of albino children and adults is to fix the defects that developed due to abnormal intrauterine development of the visual system.
Optical Aids
Refractive errors require treatment with corrective lenses, preferably by 4 to 6 months of age with frequent changes in prescriptions in the first years of life.
Even with refractive correction, vision may never fully normalize because of irreversible foveal hypoplasia.
Lenses that darken in sunlight help with photophobia but decrease vision. Lenses should have UV protection. Bifocals and low-vision aids may also be considered in older children and adults.
Photodysphoria can be relieved by sunglasses, transition lenses, or special filter glasses, although many prefer not to wear them because of the reduction in vision from the dark lenses when indoors.
Abnormal head posture with dampening of the nystagmus in a null point may be modified with prismatic glasses correction. Teaching aids and special classroom considerations (high contrast reading material, large print texts and worksheets, close-to-board seating, magnification settings on computers, among others) can help overcome the educational delays associated with visual deficits.
Surgical Interventions
Strabismus surgery is usually not required but may be performed for cosmetic purposes, particularly if the strabismus or the face turn is marked or fixed. The need for vision aids and the educational needs of the visually impaired should be addressed.
Skin care and prevention of skin cancer
Dermatologic counseling for age-appropriate sun-protective lotions and clothing should be a major consideration in the albino care.
- UV sun rays. Additional protection can be enlisted with the use of protective clothing and eyewear (hats, UPF-labeled clothing, long-sleeves, long pants, collared shirts, socks, UV protective sunglasses).
- Skin cancer. Self-examination and self-education on melanoma. Lifelong, periodic skin examinations (once to twice per year) with dermatology for early detection and treatment of skin cancers is highly recommended. Surveillance should start at adolescence, as skin cancer may appear as early as the teenage years.
Lifestyle and home remedies
As we already discussed, the lack of pigment and problems with eye development may affect the quality of life significantly. It is important to prevent oxidative damage in the tissues and give the albino child maximum support in social life and nourishment of the body.
It is wise to find a natural practitioner who can help with relaxation techniques and natural supplements. Certain foods are known to be rich in vitamins that help neural development and eye functions:
- Carotenoids are phytochemicals that are classified as carotenes if they are exclusively hydrocarbons, but if they contain oxygen as a result of oxidation or enzymatic addition, they are known as xanthophylls. The macular pigment carotenoids (MP), lutein, zeaxanthin, and meso-zeaxanthin are widely recommended as dietary supplements for the prevention of visual loss from age-related macular degeneration (AMD) and other ocular diseases.
- Vitamin A, a term encompassing a group of unsaturated organic compounds, which include retinol, retinal, and retinoic acid, is an essential nutrient because it cannot be produced by humans and must be provided as part of the diet. Provitamin A carotenoids, which are produced in plants, are also a primary dietary source of the vitamin after enzymatic cleavage. Vitamin A deficiency continues to contribute significantly to the global burden of disease, particularly affecting resource-constrained countries. Vitamin A deficiency disorders include xerophthalmia.
- Folate and B12 key role in ensuring normal development, growth, and maintenance of optimal health is the focus of the background section of this article, which begins with historical highlights and continues with capstones of clinical, chronic disease, and developmental disorder considerations.
Coping and support
Life expectancy within the non-syndromic OCA population is comparable to the general population. There is an increased mortality risk due to skin cancer. This risk changes based on the amount of relative sun exposure in a geographic area and certain socioeconomic issues.
These socioeconomic issues include limited access to sunscreen, limited education on sun-protective measures, cultural differences in dress, limited access to healthcare professionals for surveillance leading to late presentation and late treatment, inability to comply with or complete treatment courses.
In these same lower socioeconomic regions, there is often a palpable stigma associated with albinism, and the afflicted may be victims of persecution, prejudice, and violence. Some albinos have even been murdered as their organs are highly valued on the black market.
In Brazil, as in other parts of the world, albinism remains a little known disorder, both in relation to epidemiological data and to phenotypic and genotypic variation. In several regions of the country, individuals with albinism have no access to resources or specialized medical care, and are often neglected and deprived of social inclusion. Brazil is a tropical country, with a high incidence of solar radiation during the year nationwide. Consequently, actinic damage and skin cancer occur early and have a high incidence in this population, often leading to premature death.
Health education is important to inform albinos and their families, the general population, educators, medical professionals, and public agencies about the particularities of this genetic condition.
Clinical trials
There are many studies for albino families that are currently recruiting patients. You can find them on the website ClinicalTrials.gov
Here are some open trials:
ClinicalTrials.gov Identifier: NCT03959605. Genetic Determinant of Foveolar Hypoplasia in Parents of Albinos Children (ALAFOR)
ClinicalTrials.gov Identifier: NCT04281732. Visual Performance Measures in a Virtual Reality Environment for Assessing Clinical Trial Outcomes in Those With Severely Reduced Vision
ClinicalTrials.gov Identifier: NCT00001456. Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome
ClinicalTrials.gov Identifier: NCT04193592. Efficacy and Safety of Pirfenidone Treatment in HPS-ILD (PEARL)
References
Albinism. Justin R. Federico; Karthik Krishnamurthy. August 28, 2020