OBSOLETE: Congenital blindness due to retinal non-attachment

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ORPHA:300337
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Overview

Congenital blindness due to retinal non-attachment is a very rare eye condition present from birth in which the retina — the light-sensitive layer at the back of the eye — fails to properly attach to the underlying tissue during development in the womb. Because the retina is not in its correct position, it cannot receive and process visual signals, leading to severe vision loss or complete blindness from birth. This condition is classified as 'obsolete' in the Orphanet rare disease database (code 300337), meaning it has been reclassified or merged into other, more precisely defined diagnostic categories. In modern clinical practice, this presentation is now typically categorized under broader groups of conditions such as congenital retinal detachment, persistent fetal vasculature, Norrie disease, or other inherited vitreoretinal disorders. Babies born with this condition typically show no response to light or visual stimuli shortly after birth. The pupils may not react normally, and involuntary eye movements (nystagmus) may develop. Because this term is now obsolete, patients and families who were previously given this diagnosis should work with an ophthalmologist and clinical geneticist to obtain a more specific, updated diagnosis. Treatment options depend on the underlying cause and may range from surgical intervention to supportive visual rehabilitation, though outcomes for vision recovery are often limited when the retina has never been attached.

Key symptoms:

Complete blindness from birthNo response to light or visual stimuliAbnormal pupil reactionsInvoluntary eye movements (nystagmus)White or abnormal appearance of the pupil (leukocoria)Small or underdeveloped eyes (microphthalmia) in some casesDelayed visual development milestonesDifficulty making eye contact

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Congenital blindness due to retinal non-attachment.

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No actively recruiting trials found for OBSOLETE: Congenital blindness due to retinal non-attachment at this time.

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No specialists are currently listed for OBSOLETE: Congenital blindness due to retinal non-attachment.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

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 OBSOLETE: Congenital blindness due to retinal non-attachment.

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Community

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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.What is the specific underlying cause of my child's retinal non-attachment?,Is genetic testing recommended, and what might it tell us?,Are there any surgical options that could help, even partially?,What early intervention services should we start right away?,Does this condition affect other parts of the body, or is it limited to the eyes?,What is the chance that future children could have the same condition?,Are there any clinical trials or emerging therapies we should know about?

Common questions about OBSOLETE: Congenital blindness due to retinal non-attachment

What is OBSOLETE: Congenital blindness due to retinal non-attachment?

Congenital blindness due to retinal non-attachment is a very rare eye condition present from birth in which the retina — the light-sensitive layer at the back of the eye — fails to properly attach to the underlying tissue during development in the womb. Because the retina is not in its correct position, it cannot receive and process visual signals, leading to severe vision loss or complete blindness from birth. This condition is classified as 'obsolete' in the Orphanet rare disease database (code 300337), meaning it has been reclassified or merged into other, more precisely defined diagnostic

At what age does OBSOLETE: Congenital blindness due to retinal non-attachment typically begin?

Typical onset of OBSOLETE: Congenital blindness due to retinal non-attachment is neonatal. Age of onset can vary across affected individuals.