Overview
Oculocerebral hypopigmentation syndrome, Preus type, is an extremely rare genetic condition that affects the eyes, brain, and skin pigmentation. It is sometimes referred to as Preus syndrome. People with this condition typically have lighter-than-expected skin, hair, and eye color (hypopigmentation) because their bodies produce less melanin, the pigment that gives color to these tissues. In addition to the pigmentation changes, this syndrome affects brain development and function, leading to intellectual disability and possible developmental delays. Eye problems are also common, including visual impairment and abnormalities of the eye structure. Other features that have been described in affected individuals include growth delays, distinctive facial features, and sometimes hearing problems. Because so few cases have been reported in the medical literature, the full range of symptoms and their severity is not completely understood. There is currently no cure for this condition. Treatment focuses on managing individual symptoms, such as vision support, educational assistance for intellectual disability, skin protection from sun exposure due to reduced pigmentation, and regular monitoring by a team of specialists. Early intervention services for developmental delays can help children reach their full potential. The rarity of this condition means that research into targeted therapies is very limited, and care is largely supportive and individualized.
Key symptoms:
Lighter than expected skin colorLighter than expected hair colorLight-colored eyesIntellectual disabilityDevelopmental delaysVision problemsEye abnormalitiesGrowth delaysDistinctive facial featuresPossible hearing problemsLow muscle toneSensitivity to sunlight
Clinical phenotype terms (26)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Oculocerebral hypopigmentation syndrome, Preus type.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Oculocerebral hypopigmentation syndrome, Preus type.
Community
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Caregiver Resources
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.What specific tests can confirm this diagnosis and rule out other similar conditions?,How severe is the intellectual disability likely to be, and what early interventions are recommended?,What eye problems should we watch for, and how often should vision be checked?,Are there any new genetic findings or research studies related to this condition?,What sun protection measures are most important for my child?,Should other family members be tested or screened?,What specialists should be part of our care team, and how often should we see them?
Common questions about Oculocerebral hypopigmentation syndrome, Preus type
What is Oculocerebral hypopigmentation syndrome, Preus type?
Oculocerebral hypopigmentation syndrome, Preus type, is an extremely rare genetic condition that affects the eyes, brain, and skin pigmentation. It is sometimes referred to as Preus syndrome. People with this condition typically have lighter-than-expected skin, hair, and eye color (hypopigmentation) because their bodies produce less melanin, the pigment that gives color to these tissues. In addition to the pigmentation changes, this syndrome affects brain development and function, leading to intellectual disability and possible developmental delays. Eye problems are also common, including visu
How is Oculocerebral hypopigmentation syndrome, Preus type inherited?
Oculocerebral hypopigmentation syndrome, Preus type follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Oculocerebral hypopigmentation syndrome, Preus type typically begin?
Typical onset of Oculocerebral hypopigmentation syndrome, Preus type is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Oculocerebral hypopigmentation syndrome, Preus type?
16 specialists and care centers treating Oculocerebral hypopigmentation syndrome, Preus type are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.