Living with Hypomyelination and Congenital Cataract
An inherited condition affecting the nervous system and eyes, with cataracts at birth and slowing development after age 1.
Understanding Hypomyelination and Congenital Cataract
It is a leukoencephalopathy, a group of conditions that affect the brain's white matter. The body has a reduced ability to form myelin, the coating on nerve fibers. People are usually born with cataracts (clouded lenses) in both eyes. Development is usually typical in the first year, then slows around age 1. Most children learn to walk between ages 1 and 2, usually with support. Over time, legs become weak and thin, and many people eventually use a wheelchair.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cataracts in both eyes at birth
- Global developmental delay
- Moderate intellectual disability
- Too little myelin in the brain
- Leg muscle weakness
- Reduced feeling in arms and legs
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in HYCC1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
United Leukodystrophy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: United Leukodystrophy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Hunter's Hope Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the HYCC1 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: fam126a leukodystrophy; hcc - hypomyelination and congenital cataract; hld5; hypomyelinating leukodystrophy 5; hypomyelinating leukodystrophy type 5; hypomyelination-congenital cataract syndrome
Patient organizations
- Hunter's Hope FoundationHypomyelination and Congenital Cataract · United States
- United Leukodystrophy FoundationLeukodystrophies · United States
You are more than your diagnosis
Perspectives from people navigating life with Hypomyelination and Congenital Cataract.
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