Community
Retinal Dystrophy with Leukodystrophy
A peroxisomal disease that is characterized by a peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (VLCFA) metabolism and that is caused by homozygous mutation in the ACBD5 gene on chromosome 10
This information is for educational purposes only and is not medical advice. Always consult your healthcare provider about your specific condition and treatment.
When to seek help
Seek medical help right away if you have severe, sudden, or worsening symptoms, trouble breathing, chest pain, or any symptom that feels life-threatening. This community is for peer support and education only and is not a substitute for professional medical advice.
If you are experiencing a medical emergency, contact your local emergency services immediately.
Overview
A peroxisomal disease that is characterized by a peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (VLCFA) metabolism and that is caused by homozygous mutation in the ACBD5 gene on chromosome 10
Resources
Join the Retinal Dystrophy with Leukodystrophy community
Talk with people who understand, share what helps, and find support from others living with retinal dystrophy with leukodystrophy. Private, moderated, and free.
Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.