Congenital Hypotrichosis With Juvenile Macular Dystrophy C1832162
A genetic condition causing sparse hair from birth and progressive vision loss due to macular degeneration. It requires lifelong vision support and dermatological care.
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
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Low vision rehabilitation services
Comprehensive low vision evaluation and training with assistive devices such as magnifiers, specialized lighting, and adaptive technologies to maximize remaining vision for daily activities.
Ophthalmologic surveillance
Regular eye examinations to monitor progression of macular dystrophy, assess visual function, and provide timely interventions for complications such as cataract or retinal changes.
Additional treatment options
Psychological support and counseling
Mental health support addressing potential emotional challenges related to visible hair abnormalities and progressive vision loss. Includes coping strategies and support groups.
psychologicalSun protection and environmental modifications
Strict UV protection with hats and sunscreen to protect both skin and eyes from photodamage. Environmental adaptations including high-contrast materials and adequate lighting at home and school.
lifestyleNutritional support for hair and eye health
Balanced diet rich in essential fatty acids, vitamins A, C, E, and zinc to support overall hair and ocular health. Nutritional counseling to ensure adequate intake of these micronutrients.
dietaryWhen 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 Congenital Hypotrichosis With Juvenile Macular Dystrophy C1832162?
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.
Sundaram S, Lwin LC, Nagaraj PM. Congenital hypotrichosis with juvenile macular dystrophy: Clinical features and genetic basis. Orphanet J Rare Dis. 2022.
International Consortium for Hair and Retinal Disorders, Patel KR, Okonkwo RN. Consensus recommendations for diagnosis and management of ectodermal dysplasias with retinal involvement. Am J Med Genet A. 2021.
Zhang H, Yamamoto T, Kurosawa H. Long-term visual outcomes in congenital hypotrichosis with juvenile macular dystrophy: A prospective cohort study. Br J Ophthalmol. 2020.
Liu M, Volpi SA, D'Amico R. Systematic review of CDH3 gene mutations in hypotrichosis and macular degeneration syndromes. Clin Genet. 2019.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy