Overview
This Orphanet entry (code 183598) is classified as 'OBSOLETE,' meaning it is no longer used as an active disease category. It was previously a broad grouping term for rare genetic conditions that affect the eyelids (palpebral), the tear-producing and tear-draining system (lacrimal system), and the conjunctiva (the thin clear tissue that covers the white part of the eye and lines the inside of the eyelids). Because this was a general classification rather than a single specific disease, it has been retired and replaced by more precise disease entries in medical databases. Conditions that once fell under this umbrella category include various inherited disorders causing droopy eyelids (ptosis), abnormal eyelid development, blocked or absent tear ducts, dry eyes, and conjunctival abnormalities. Each of these specific conditions now has its own classification with more detailed information about causes, symptoms, and treatments. If you or a family member has been given a diagnosis that references this obsolete category, it is important to work with your doctor or a clinical geneticist to identify the specific condition involved. A more precise diagnosis will help guide appropriate genetic testing, treatment options, and long-term management. Your medical team can look up the current Orphanet classification that best matches your symptoms and genetic findings.
Key symptoms:
Droopy eyelids (ptosis)Blocked or absent tear ductsDry eyes or excessive tearingAbnormal eyelid shape or positionRed or irritated eyesSensitivity to lightRecurrent eye infectionsSwelling around the eyesDifficulty closing the eyes completelyAbnormal growths on the conjunctiva
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Rare genetic palpebral, lacrimal system and conjunctival disease.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Rare genetic palpebral, lacrimal system and conjunctival disease.
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: Rare genetic palpebral, lacrimal system and conjunctival disease.
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.This category is listed as obsolete — what is the specific, current diagnosis for my condition?,What gene or genes might be involved, and should we pursue genetic testing?,What are the treatment options for my specific condition, and are any of them curative?,How often should I or my child have eye examinations?,Are there risks to vision that we should watch for over time?,Should other family members be evaluated or tested?,Can you refer me to a specialist or center with experience in this specific condition?
Common questions about OBSOLETE: Rare genetic palpebral, lacrimal system and conjunctival disease
What is OBSOLETE: Rare genetic palpebral, lacrimal system and conjunctival disease?
This Orphanet entry (code 183598) is classified as 'OBSOLETE,' meaning it is no longer used as an active disease category. It was previously a broad grouping term for rare genetic conditions that affect the eyelids (palpebral), the tear-producing and tear-draining system (lacrimal system), and the conjunctiva (the thin clear tissue that covers the white part of the eye and lines the inside of the eyelids). Because this was a general classification rather than a single specific disease, it has been retired and replaced by more precise disease entries in medical databases. Conditions that once