Overview
Heckenlively syndrome is an extremely rare condition that has been described in the medical literature but is now considered an obsolete diagnostic term, meaning it is no longer used as a separate disease classification by most experts. The condition was originally described as a combination of eye problems, specifically retinitis pigmentosa (a progressive loss of vision due to degeneration of the retina), along with skeletal abnormalities and other features. Patients with this condition were noted to have progressive vision loss, particularly difficulty seeing in dim light (night blindness), narrowing of the visual field (tunnel vision), and bone or joint abnormalities. Because this syndrome is now considered obsolete, patients who were previously diagnosed with Heckenlively syndrome may have their condition reclassified under a more specific diagnosis based on modern genetic testing. The features originally grouped under this name likely overlap with other known genetic conditions affecting the eyes and skeleton. If you or a family member has been given this diagnosis, it is important to seek updated genetic evaluation to determine the most accurate current diagnosis, which can guide treatment and management decisions. Treatment has generally been supportive, focusing on managing vision loss and any skeletal issues.
Key symptoms:
Progressive vision lossNight blindness (difficulty seeing in low light)Tunnel vision (loss of side vision)Bone or joint abnormalitiesSkeletal changesSensitivity to bright lightGradual loss of central vision
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Heckenlively syndrome.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Heckenlively syndrome.
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 OBSOLETE: Heckenlively syndrome.
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.Is my diagnosis still classified as Heckenlively syndrome, or should it be updated based on current knowledge?,Should I have genetic testing to identify the specific gene causing my condition?,Am I eligible for any gene therapy or clinical trials?,How quickly is my vision likely to change, and how often should I be monitored?,What low vision aids or rehabilitation services do you recommend?,Are there any supplements or medications that could slow my vision loss?,Should my family members be tested for this condition?
Common questions about OBSOLETE: Heckenlively syndrome
What is OBSOLETE: Heckenlively syndrome?
Heckenlively syndrome is an extremely rare condition that has been described in the medical literature but is now considered an obsolete diagnostic term, meaning it is no longer used as a separate disease classification by most experts. The condition was originally described as a combination of eye problems, specifically retinitis pigmentosa (a progressive loss of vision due to degeneration of the retina), along with skeletal abnormalities and other features. Patients with this condition were noted to have progressive vision loss, particularly difficulty seeing in dim light (night blindness),