Comprehensive, easy-to-understand information about this condition
How we create this content →Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 31, 2026
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 31, 2026
The documentation surrounding limbal stem cell deficiency is limited primarily due to its rarity, affecting fewer than 5 in 10,000 individuals. This low prevalence has resulted in fewer systematic clinical studies and a lack of comprehensive understanding of its genetic basis and clinical characteristics. Additionally, the phenotypic variability and overlap with other ocular conditions complicate the characterization of LSCD, making it a challenge for researchers and clinicians alike.
Patients with limbal stem cell deficiency often experience a range of ocular symptoms. The most common features include conjunctival hyperemia (30-79%), ocular pain (30-79%), and photophobia (30-79%). Other notable symptoms are lacrimation abnormalities, blepharospasm, and reduced visual acuity, all occurring in a similar frequency range. Less common symptoms include corneal neovascularization and generalized opacification of the cornea, which can occur in 5-29% of patients. These symptoms can lead to significant visual impairment and discomfort.
To navigate limbal stem cell deficiency, it is essential to consult with an ophthalmologist who specializes in ocular surface diseases or corneal specialists with experience in stem cell therapies. Consider exploring clinical trial opportunities, as they may provide access to cutting-edge treatments. You can search for active trials at ClinicalTrials.gov. While no specific patient organizations are identified, resources like the National Organization for Rare Disorders (NORD) at rarediseases.org can offer additional support and information.
Currently, there are two orphan drugs designated for limbal stem cell deficiency: allogeneic ABCB5-positive limbal stem cells and ex vivo expanded autologous human corneal epithelial cells containing stem cells. These treatments are still in development and aim to restore corneal surface integrity. There are also 12 active clinical trials investigating various aspects of LSCD. For more information on these trials, you can visit ClinicalTrials.gov and search for 'limbal stem cell deficiency'.
Actionable guidance for navigating care for limbal stem cell deficiency
To navigate limbal stem cell deficiency, it is essential to consult with an ophthalmologist who specializes in ocular surface diseases or corneal specialists with experience in stem cell therapies. Consider exploring clinical trial opportunities, as they may provide access to cutting-edge treatments. You can search for active trials at ClinicalTrials.gov. While no specific patient organizations are identified, resources like the National Organization for Rare Disorders (NORD) at rarediseases.org can offer additional support and information.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Clinical profile data for this condition is not yet available. Phenotype information may still be loading below.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 31, 2026
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 2 companies have orphan drug designations for this disease
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.