Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype...
Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation surrounding benign concentric annular macular dystrophy is limited due to its extreme rarity, which restricts the scope of systematic clinical studies. Additionally, the genetic basis was only recently identified, and ongoing clinical characterization is necessary to fully understand the condition's spectrum and implications.
To navigate your condition, consider seeking a specialist in hereditary retinal diseases, such as a retinal ophthalmologist. Genetic counseling may also be beneficial to understand the implications of the IMPG1 gene variant for you and your family. While there are currently no identified patient organizations, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, inquire about any opportunities for participation in natural history studies or registries that may arise as research progresses.
Actionable guidance for navigating care for benign concentric annular macular dystrophy
To navigate your condition, consider seeking a specialist in hereditary retinal diseases, such as a retinal ophthalmologist. Genetic counseling may also be beneficial to understand the implications of the IMPG1 gene variant for you and your family. While there are currently no identified patient organizations, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, inquire about any opportunities for participation in natural history studies or registries that may arise as research progresses.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation surrounding benign concentric annular macular dystrophy is limited due to its extreme rarity, which restricts the scope of systematic clinical studies. Additionally, the genetic basis was only recently identified, and ongoing clinical characterization is necessary to fully understand the condition's spectrum and implications.
To navigate your condition, consider seeking a specialist in hereditary retinal diseases, such as a retinal ophthalmologist. Genetic counseling may also be beneficial to understand the implications of the IMPG1 gene variant for you and your family. While there are currently no identified patient organizations, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, inquire about any opportunities for participation in natural history studies or registries that may arise as research progresses.
Actionable guidance for navigating care for benign concentric annular macular dystrophy
To navigate your condition, consider seeking a specialist in hereditary retinal diseases, such as a retinal ophthalmologist. Genetic counseling may also be beneficial to understand the implications of the IMPG1 gene variant for you and your family. While there are currently no identified patient organizations, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, inquire about any opportunities for participation in natural history studies or registries that may arise as research progresses.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation surrounding benign concentric annular macular dystrophy is limited due to its extreme rarity, which restricts the scope of systematic clinical studies. Additionally, the genetic basis was only recently identified, and ongoing clinical characterization is necessary to fully understand the condition's spectrum and implications.
To navigate your condition, consider seeking a specialist in hereditary retinal diseases, such as a retinal ophthalmologist. Genetic counseling may also be beneficial to understand the implications of the IMPG1 gene variant for you and your family. While there are currently no identified patient organizations, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, inquire about any opportunities for participation in natural history studies or registries that may arise as research progresses.
Actionable guidance for navigating care for benign concentric annular macular dystrophy
To navigate your condition, consider seeking a specialist in hereditary retinal diseases, such as a retinal ophthalmologist. Genetic counseling may also be beneficial to understand the implications of the IMPG1 gene variant for you and your family. While there are currently no identified patient organizations, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, inquire about any opportunities for participation in natural history studies or registries that may 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.
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
European rare disease database
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.