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Living with Oculocerebral hypopigmentation syndrome of Preus

A rare condition with pale skin and hair, slow growth, intellectual disability, and eye and ear differences from birth.

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Understanding Oculocerebral hypopigmentation syndrome of Preus

Oculocerebral hypopigmentation syndrome of Preus is a rare condition from birth with light skin and hair, slow growth, and intellectual disability.

Along with those features, people can have other differences, including ocular albinism, cataract, delayed development, hearing loss from the inner ear, a long narrow head, a high arched palate, widely spaced teeth, anemia, and quick involuntary eye movements. GARD lists onset as newborn.

Signs & symptoms

Symptoms vary from person to person. GARD lists these among the most common:

  • Fair skin, hair, and eyes (hypopigmentation)
  • Quick, involuntary eye movements (nystagmus)
  • Delayed development and intellectual disability
  • Short stature
  • Hearing impairment
  • Seizures

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include brain and nervous system specialists, eye disease specialists, genetic specialists and gum, teeth and mouth specialists.

  3. Ask which tests can help

    Your care team will decide which exams and tests can confirm the diagnosis.

Care & treatment

Care team
Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Gum, teeth and mouth specialists (odontologists)
Expert care
Ask about multidisciplinary care centers for rare conditions
Treatment
GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
Research
Clinical trials and observational studies may be options. See the research section below.

General information, not medical advice. Your care team makes the decisions.

Everyday life

Living with a rare condition is easier with support.

  • Connect with Children's Skin Disease Foundation
  • Keep notes on symptoms, changes and questions for appointments
  • Ask about patient registries that help research
  • Look into financial aid and travel resources for care visits
Bring these questions to your next doctor visit
How should we protect my child's skin and eyes from sun and light?
Which tests should check for anemia and hearing?
Is genetic testing available to find the cause?

Quick facts

Symptoms usually startNewborn

GARD says changes in genes cause this condition. It doesn't list a specific gene or how it is inherited.

GeneticNeurologicalSkin

Also known as: oculocerebral hypopigmentation syndrome of preus type; oculocerebral hypopigmentation syndrome, preus type

Patient organizations

Broader rare-disease groups

Source: NIH GARD · Oculocerebral hypopigmentation syndrome of PreusGARD ID 4034 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

Perspectives from people navigating life with Oculocerebral hypopigmentation syndrome of Preus.

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Explore research for Oculocerebral hypopigmentation syndrome of Preus

Explore actively recruiting Oculocerebral hypopigmentation syndrome of Preus studies with HealthSpark.

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Find actively recruiting studies for Oculocerebral hypopigmentation syndrome of Preus with HealthSpark. Share your city to explore research near you.

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  • Eligibility is confirmed by the study team

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