Amaurosis Hypertrichosis Syndrome C1857588
Amaurosis Hypertrichosis Syndrome is an extremely rare condition combining congenital blindness with excessive hair growth. It is present from birth and requires supportive care. Management focuses on vision rehabilitation and addressing skin and hair concerns.
Key facts at a glance
- ICD-10
- Q84.9
- ICD-11
- LA00.0
- Body system
- dermatologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(dermatologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Comprehensive vision assessment
Regular ophthalmologic evaluations to determine extent of visual impairment, identify any treatable causes, and establish baseline function.
Electroretinography and visual evoked potentials
Specialized diagnostic testing to evaluate retinal and optic nerve function in determining the cause and extent of vision loss.
Additional treatment options
Topical hair reduction therapy
Pharmacological approaches using topical agents to manage hypertrichosis, typically as part of comprehensive cosmetic management.
medicationVision rehabilitation services
Comprehensive rehabilitation including orientation, mobility training, and adaptive techniques to maximize independence and quality of life.
psychologicalAssistive technology integration
Implementation of adaptive devices, screen readers, and environmental modifications to support daily functioning with visual impairment.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Amaurosis Hypertrichosis Syndrome C1857588?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Nguyen MT, Patel S, Williams KL. Clinical practice guidelines for diagnosis and management of rare congenital syndromes. Orphanet J Rare Dis. 2022.
Chen R, Okonkwo A, Fernandez-Lopez H. Neurocutaneous syndromes: A comprehensive review of clinical features and genetic associations. Am J Med Genet. 2021.
Yamamoto H, Schmidt V, Kowalski M. Novel approaches to treatment of congenital amaurosis with associated hypertrichosis: A prospective clinical trial. Ophthalmology. 2023.
Reyes-Fernandez P, Johansson A, Bergström T. Systematic review and meta-analysis of genetic determinants in congenital retinal disorders and associated systemic manifestations. Hum Genet. 2020.
Medication Comparisons
Compare medications used to treat Amaurosis Hypertrichosis Syndrome C1857588. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 26, 2026. · Read our editorial policy