An inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.
Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation surrounding cone dystrophy is limited primarily due to its rarity and the fact that it affects fewer than 1 in 30,000 individuals worldwide. This rarity results in fewer systematic clinical studies and a lack of comprehensive phenotypic characterization. Additionally, the genetic basis of the condition is still being explored, which contributes to the gaps in available information.
To navigate your care effectively, consider seeking a specialist in hereditary retinal diseases or an ophthalmologist with expertise in retinal dystrophies. Genetic counseling may also be beneficial given the involvement of specific genes. 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. Participation in clinical trials may also be an option, and you can find relevant studies at ClinicalTrials.gov.
Currently, there are 37 active clinical trials investigating various aspects of cone dystrophy. These trials may explore potential therapies and interventions aimed at managing the condition. For more detailed information on these studies, you can visit ClinicalTrials.gov and search for 'cone dystrophy'. This research offers hope for future advancements in treatment options.
Actionable guidance for navigating care for cone dystrophy
To navigate your care effectively, consider seeking a specialist in hereditary retinal diseases or an ophthalmologist with expertise in retinal dystrophies. Genetic counseling may also be beneficial given the involvement of specific genes. 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. Participation in clinical trials may also be an option, and you can find relevant studies at ClinicalTrials.gov.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
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.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.