Oguchi disease

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ORPHA:75382OMIM:258100H53.6
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6Specialists8Treatment centers

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Overview

Oguchi disease is a very rare inherited condition that affects the retina — the light-sensitive layer at the back of your eye. It is a form of stationary night blindness, meaning people with this condition have great difficulty seeing in dim light or darkness, but this does not get worse over time. The condition has been known by other names, including Oguchi's disease, and was first described by a Japanese ophthalmologist named Chuta Oguchi in 1907. One of the most distinctive features of Oguchi disease is something called the Mizuo-Nakamura phenomenon. In normal lighting, the retina takes on an unusual golden or grayish-yellow color. After spending a long time in complete darkness — sometimes several hours — the retina returns to its normal reddish color. This color change is unique to Oguchi disease and helps doctors identify it. The main symptom is night blindness, which means struggling to see when light is low, such as at night or in a dimly lit room. Vision in bright daylight is usually normal or close to normal. There is currently no cure, but the condition is stable and does not lead to complete blindness. Management focuses on helping people adapt to low-light environments and protecting their safety in the dark.

Also known as:

Key symptoms:

Night blindness — difficulty seeing in dim light or darknessNormal or near-normal vision in bright daylightUnusual golden or grayish-yellow color of the retina seen during an eye examRetina returns to normal color after prolonged time in the dark (Mizuo-Nakamura phenomenon)Slow adjustment when moving from bright to dark environmentsDifficulty driving at nightTrouble navigating in low-light settings like movie theaters or restaurants

Clinical phenotype terms (13)— hover any for plain English
Early-onset non-progressive night blindnessHP:0007642ERG: Reduced dark-adapted b-wave amplitudeHP:0007984Mizuo phenomenonHP:0030824Abnormality of refractionHP:0000539Macular degenerationHP:0000608DyschromatopsiaHP:0007641
Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Oguchi disease.

View clinical trials →

No actively recruiting trials found for Oguchi disease at this time.

New trials open frequently. Follow this disease to get notified.

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Specialists

6 foundView all specialists →
TP
Todd Durham, PhD
Specialist
PI on 1 active trial
LM
Leslie Olivia Hopkins, MD
NASHVILLE, TN
Specialist
PI on 1 active trial1 Oguchi disease publication
PM
Peirong Lu, MD
Specialist
PI on 1 active trial
MF
Michael J. Fehlings, MD, PhD, FRCSC, FACS
Specialist
PI on 1 active trial
SP
Stephan Degle, Prof.
Specialist
PI on 1 active trial

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Oguchi disease.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Oguchi disease

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.Which gene is causing my Oguchi disease — SAG or GRK1 — and what does that mean for my family?,Should my siblings or children be tested for this condition?,Are there any low-vision aids or devices that could help me see better in the dark?,Is it safe for me to drive at night, and are there legal requirements I should know about?,Are there any clinical trials or new treatments being studied for Oguchi disease?,How often should I have eye exams, and what should I watch for that might signal a change in my vision?,Can you refer me to a low vision specialist or genetic counselor?

Common questions about Oguchi disease

What is Oguchi disease?

Oguchi disease is a very rare inherited condition that affects the retina — the light-sensitive layer at the back of your eye. It is a form of stationary night blindness, meaning people with this condition have great difficulty seeing in dim light or darkness, but this does not get worse over time. The condition has been known by other names, including Oguchi's disease, and was first described by a Japanese ophthalmologist named Chuta Oguchi in 1907. One of the most distinctive features of Oguchi disease is something called the Mizuo-Nakamura phenomenon. In normal lighting, the retina takes o

How is Oguchi disease inherited?

Oguchi disease follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Oguchi disease typically begin?

Typical onset of Oguchi disease is childhood. Age of onset can vary across affected individuals.

Which specialists treat Oguchi disease?

6 specialists and care centers treating Oguchi disease are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.