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Skin diseases

Oculocutaneous albinism (OCA)

An inherited condition in which there is little pigment in the skin, hair and eyes. The skin is very pale and burns easily in the sun. Vision problems are common.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

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This page is translated from the Turkish original.

This disease is followed through the “Skin diseases” group.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

Melanin is the substance that gives the skin, hair and eyes their color. In this condition, little or no melanin is made. Melanin is also needed for the eye to develop. This is why vision is affected. The condition is lifelong but does not get worse over time.

Which symptoms can occur?

Color and vision problems vary by type.

  • Very pale skin; burning easily in the sun
  • White or light-colored hair
  • Light-colored eyes
  • Involuntary shaking of the eyes, called nystagmus
  • Reduced sharpness of vision
  • Squint
  • Sensitivity to light
  • Sun-related skin damage and a risk of skin cancer

How is it diagnosed?

Albinism is usually recognized at birth from the baby's appearance. An eye doctor examines the eyes in detail. Sometimes the connection between the eye and the brain is measured with a special test. A genetic test is needed to find out which type it is.

Treatment and care

There is no definite cure for albinism, but with support people can live well. Glasses or contact lenses improve vision. Low-vision aids such as magnifiers and large print are useful. Surgery can sometimes be done for squint. The skin is protected with sunscreen, clothing and a hat. The eyes are checked every year and the skin regularly. With suitable support, children can attend a regular school. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

Oculocutaneous albinism is passed on through recessive inheritance. Two changed genes are needed to have the condition; one comes from the mother and one from the father. For a carrier couple, the chance of an affected child in each pregnancy is 1 in 4. The chance that a child is a carrier is 1 in 2. In marriages between relatives, the chance of two carriers coming together may be higher. Genetic counselling guides the family.

Source: MedlinePlus Genetics: Oculocutaneous albinism · NHS: Albinism · NORD: Oculocutaneous Albinism

Key facts

How common is it?
Prevalence: 1-9 per 100 000 (Worldwide)
How is it inherited?
Autosomal recessive
When does it usually start?
Newborn period

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

For all rare diseases: Nadir Hastalıklar Federasyonu

Links checked on October 8, 2026.

Guides related to this disease

  • Rare disease at school · Telling the school, medicines and emergency plan, inclusion and BEP, support education room, absences, LGS/YKS arrangements, peer bullying.

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about Albinism (OCA)

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 1 active interventional study for this disease. 1 is recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Skin diseases: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:55 · ICD-11 EC23.20

Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.