Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA) associating the typical optic atrophy with other extra-ocular manifestations such as ...
Comprehensive, easy-to-understand information about this condition
How we create this content →The limited documentation surrounding ADOA plus is largely due to its extreme rarity, affecting fewer than 10 individuals per million. This makes comprehensive clinical studies challenging. Additionally, the condition's phenotypic variability and overlap with other syndromes complicate systematic characterization. Ongoing research may eventually shed more light on this condition, but currently, many aspects remain underexplored.
To navigate ADOA plus, consider consulting a neurologist with expertise in hereditary optic neuropathies or neuromuscular disorders. While there are currently no identified patient organizations, you can explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for more information. Additionally, inquire about participation in any available natural history studies or registries that may help advance understanding of this condition.
Research efforts for ADOA plus include the development of an 18-mer antisense oligonucleotide targeting OPA1 pre-mRNA, which is currently designated as an orphan drug. There is also one active clinical trial related to this condition. For more information on ongoing trials, you can visit the ClinicalTrials.gov search page: https://clinicaltrials.gov/search?cond=autosomal%20dominant%20optic%20atrophy%20plus%20syndrome.
Actionable guidance for navigating care for autosomal dominant optic atrophy plus syndrome
To navigate ADOA plus, consider consulting a neurologist with expertise in hereditary optic neuropathies or neuromuscular disorders. While there are currently no identified patient organizations, you can explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for more information. Additionally, inquire about participation in any available natural history studies or registries that may help advance understanding of this condition.
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 7, 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. 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.