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# Oculocutaneous albinism

Oculocutaneous albinism is a group of inherited conditions with little or no melanin in skin, hair and eyes, and reduced vision.

Updated 2026-11-01

## Structures involved

Tap one to see what it is and open it in 3D.

- [Skin](https://durgical.com/en/anatomy/skin/)
- [Iris](https://durgical.com/en/anatomy/iris/)
- [Retina](https://durgical.com/en/anatomy/retina/)
- [Macula](https://durgical.com/en/anatomy/macula/)
- [Optic chiasm](https://durgical.com/en/anatomy/optic-chiasm/)

## In biochemistry

- [Tyrosine](https://durgical.com/en/biochemistry/molecules/tyrosine/)
- [Molecules derived from amino acids](https://durgical.com/en/biochemistry/topics/molecules-derived-from-amino-acids/)
- [L-DOPA (levodopa)](https://durgical.com/en/biochemistry/molecules/l-dopa/)

## In histology

- [Keratinocytes, melanocytes, Langerhans and Merkel cells](https://durgical.com/en/histology/keratinocytes-melanocytes-langerhans-and-merkel-cells/)

## Why it happens

- [Pigments in tissue: lipofuscin, hemosiderin, melanin, bilirubin, carbon](https://durgical.com/en/general-pathology/pigments-in-tissue-lipofuscin-hemosiderin-melanin-bilirubin-carbon/)

## What it is

Inherited failure of melanin production in melanocytes. Type 1 is due to lack of tyrosinase, the enzyme that starts melanin synthesis from tyrosine.

## Who gets it

It affects 1 in 4,000 to 7,000 people in African populations and 1 in 12,000 to 15,000 in European populations; some isolated communities have more cases.

## Causes

- OCA1: variants of the TYR gene (tyrosinase)
- OCA2: OCA2 gene (P protein); the most common type worldwide
- OCA3 and OCA4: TYRP1 and SLC45A2 genes
- Autosomal recessive inheritance

## Risk factors

- Carrier parents
- Consanguinity

## Pathophysiology

Tyrosinase turns tyrosine into DOPA and dopaquinone, the starting point of melanin. Without melanin, skin is not protected from ultraviolet light and the [retina](https://durgical.com/en/anatomy/retina/) and fovea develop poorly. [Optic nerve](https://durgical.com/en/anatomy/optic-nerve/) fibres cross abnormally at the chiasm, which reduces binocular vision.

## Classification

- OCA1A: no tyrosinase activity, no pigment for life
- OCA1B: some activity, pigment increases with age
- OCA2, OCA3, OCA4 and other genetic types

## Symptoms and signs

- Very light skin and hair
- Translucent iris
- Nystagmus
- Photophobia
- Low visual acuity and strabismus

## Red flags

- Skin lesions that grow or bleed (skin cancer risk)
- Repeated sunburns

## Diagnosis

**Clinical**
Hypopigmented [skin](https://durgical.com/en/anatomy/skin/) and hair with eye findings ([iris](https://durgical.com/en/anatomy/iris/) transillumination, foveal hypoplasia, nystagmus).

**Tests**
Genetic testing for the type; visual evoked potentials showing the abnormal crossing at the chiasm.

**Imaging**
Optical coherence tomography shows foveal hypoplasia.

## Treatment

**Conservative**
Glasses or contact lenses, low-vision aids and filters for photophobia

**Lifestyle**
Strict sun protection: clothing, hat and sunscreen

**Follow-up**
Regular skin checks by dermatology

**Surgical**
Strabismus surgery in selected cases

## Complications

- Squamous and basal cell skin cancer
- Visual disability
- Social stigma

## Prognosis

Life expectancy is normal if skin cancer is prevented; low vision is permanent.

## Test yourself

Think of the answer, then tap the question to see it.

## Which enzyme is missing in oculocutaneous albinism type 1?

Tyrosinase, which turns tyrosine into DOPA and dopaquinone, the first steps of melanin.

## Why is binocular vision poor in albinism?

Lack of melanin disturbs foveal development and makes too many optic fibres cross at the chiasm.

## What is the main skin risk in albinism?

Skin cancer, especially squamous cell carcinoma, from lack of protection against ultraviolet light.

[Add to my cards (3)](https://durgical.app/estudiar/?add=/en/conditions/oculocutaneous-albinism/)

## Related conditions

- [Phenylketonuria (PKU)](https://durgical.com/en/conditions/phenylketonuria/)

Educational information, not medical advice. For any symptom, see a health professional.

Sources: [Oculocutaneous albinism: MedlinePlus Genetics](https://medlineplus.gov/genetics/condition/oculocutaneous-albinism/) (MedlinePlus, US National Library of Medicine, 2026); [TYR gene: MedlinePlus Genetics](https://medlineplus.gov/genetics/gene/tyr/) (MedlinePlus, US National Library of Medicine, 2026); [Tyrosine catabolism](https://reactome.org/PathwayBrowser/#/R-HSA-8963684) (Reactome, 2026).

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Representative model, for educational purposes only.

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Source: https://durgical.com/en/conditions/oculocutaneous-albinism/
License: CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/). Cite as: DurgiPedia (durgical.com), https://durgical.com/en/conditions/oculocutaneous-albinism/