A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has material basis in mutations in the CFH gene on ch...
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 basal laminar drusen can be frustrating. This condition affects a relatively small population, leading to fewer systematic clinical studies. Additionally, the genetic basis was only recently identified, and ongoing clinical characterization is necessary to better understand its full impact and associated clinical features. This evolving landscape offers hope for improved insights in the future.
To navigate your care effectively, consider consulting with a retinal specialist or an ophthalmologist with expertise in inherited retinal diseases. Genetic counseling may also be beneficial, especially given the identified CFH gene mutations. Resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide additional support and information. While there are currently no patient organizations specifically for basal laminar drusen, engaging with broader organizations focused on retinal diseases may offer community and resources.
Actionable guidance for navigating care for basal laminar drusen
To navigate your care effectively, consider consulting with a retinal specialist or an ophthalmologist with expertise in inherited retinal diseases. Genetic counseling may also be beneficial, especially given the identified CFH gene mutations. Resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide additional support and information. While there are currently no patient organizations specifically for basal laminar drusen, engaging with broader organizations focused on retinal diseases may offer community and resources.
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
Genetic and Rare Diseases Info Center
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.