Overview
Choroideremia-hypopituitarism syndrome is an extremely rare condition that has been listed in medical databases but is now considered obsolete as a distinct diagnosis. This means that over time, medical experts have determined that this condition may not represent a separate, unique disease. The original description combined two features: choroideremia, which is a progressive eye condition that causes the light-sensitive layer at the back of the eye (the retina and choroid) to gradually break down, leading to vision loss; and hypopituitarism, which means the pituitary gland in the brain does not produce enough hormones. The pituitary gland controls many important body functions including growth, metabolism, and reproductive function. Because this syndrome is now considered obsolete, it is possible that the cases originally described under this name have been reclassified under other diagnoses, such as isolated choroideremia or contiguous gene deletion syndromes involving the X chromosome. Patients who were previously given this diagnosis should work with their medical team to determine whether a more current and specific diagnosis applies to their situation. Treatment would generally focus on managing the individual symptoms — monitoring and supporting vision, and replacing any deficient hormones produced by the pituitary gland. There are currently no curative treatments, but supportive care can significantly improve quality of life.
Also known as:
Key symptoms:
Progressive night blindnessGradual loss of peripheral (side) visionTunnel vision progressing to complete blindnessShort stature or slow growthDelayed pubertyFatigue and low energyLow thyroid hormone levelsLow levels of growth hormoneDifficulty seeing in dim lightCentral vision loss in later stages
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Choroideremia-hypopituitarism syndrome.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Choroideremia-hypopituitarism 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: Choroideremia-hypopituitarism 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.Has genetic testing confirmed the exact cause of my condition, and could it be a contiguous gene deletion?,Which hormones are affected, and what replacement therapy do I need?,How quickly is my vision expected to change, and how often should I have eye exams?,Am I a candidate for any gene therapy clinical trials for choroideremia?,Do I need a stress dose protocol for cortisol replacement during illness or surgery?,What low-vision resources and rehabilitation services are available to me?,Should my family members be tested, and what is the risk for future children?
Common questions about OBSOLETE: Choroideremia-hypopituitarism syndrome
What is OBSOLETE: Choroideremia-hypopituitarism syndrome?
Choroideremia-hypopituitarism syndrome is an extremely rare condition that has been listed in medical databases but is now considered obsolete as a distinct diagnosis. This means that over time, medical experts have determined that this condition may not represent a separate, unique disease. The original description combined two features: choroideremia, which is a progressive eye condition that causes the light-sensitive layer at the back of the eye (the retina and choroid) to gradually break down, leading to vision loss; and hypopituitarism, which means the pituitary gland in the brain does n
How is OBSOLETE: Choroideremia-hypopituitarism syndrome inherited?
OBSOLETE: Choroideremia-hypopituitarism syndrome follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Choroideremia-hypopituitarism syndrome typically begin?
Typical onset of OBSOLETE: Choroideremia-hypopituitarism syndrome is childhood. Age of onset can vary across affected individuals.