Any brittle cornea syndrome in which the cause of the disease is a mutation in the ZNF469 gene.
Comprehensive, easy-to-understand information about this condition
How we create this content →Inheritance patterns describe how genetic conditions are passed from parents to children.
Inheritance patterns describe how genetic conditions are passed from parents to children.
The limited documentation surrounding brittle cornea syndrome 1 is primarily due to its rarity and the recent identification of its genetic basis. Conditions like these often affect fewer individuals, leading to fewer systematic clinical studies and a lack of comprehensive phenotype characterization. This can understandably lead to frustration for those affected, but ongoing research may help illuminate more about this condition in the future.
To navigate brittle cornea syndrome 1, consider consulting with an ophthalmologist who has experience in genetic eye disorders. Genetic counseling may also be beneficial, especially for family planning and understanding inheritance patterns. While there are currently no identified patient organizations, you can access resources from the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov. Additionally, you may want to explore participating in any future natural history studies that could arise as research progresses.
Actionable guidance for navigating care for brittle cornea syndrome 1
To navigate brittle cornea syndrome 1, consider consulting with an ophthalmologist who has experience in genetic eye disorders. Genetic counseling may also be beneficial, especially for family planning and understanding inheritance patterns. While there are currently no identified patient organizations, you can access resources from the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov. Additionally, you may want to explore participating in any future natural history studies that could arise as research progresses.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Inheritance patterns describe how genetic conditions are passed from parents to children.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 7, 2026
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.