Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the GUCY2D 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 documentation for choroidal dystrophy, central areolar, 1 is limited primarily due to its rarity, which restricts the number of systematic clinical studies. Additionally, the genetic basis was only recently identified, and as a result, clinical characterization is ongoing. This means that many aspects of the condition, including its full range of symptoms and optimal management strategies, are still being explored.
To navigate your care for choroidal dystrophy, central areolar, 1, it is advisable to seek a specialist in genetic eye disorders or a retinal specialist with experience in hereditary retinal dystrophies. Genetic counseling may also be beneficial to understand the implications of the GUCY2D mutation for you and your family. For further resources, you can visit the National Organization for Rare Disorders (NORD) at rarediseases.org, which provides information on rare conditions and potential support avenues.
Actionable guidance for navigating care for choroidal dystrophy, central areolar, 1
To navigate your care for choroidal dystrophy, central areolar, 1, it is advisable to seek a specialist in genetic eye disorders or a retinal specialist with experience in hereditary retinal dystrophies. Genetic counseling may also be beneficial to understand the implications of the GUCY2D mutation for you and your family. For further resources, you can visit the National Organization for Rare Disorders (NORD) at rarediseases.org, which provides information on rare conditions and potential support avenues.
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.
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
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.