Ocular Dysgenesis Caused By Defects In Pax6 Regulation Cn376794
A genetic eye development disorder affecting how eye structures form. It can cause reduced vision, eye abnormalities, or other visual problems. Care involves ophthalmology monitoring and may include corrective lenses or surgery.
Key facts at a glance
- ICD-10
- Q15.9
- ICD-11
- LA00.0
- Body system
- ophthalmologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(ophthalmologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Iris coloboma
(ophthalmologic)Microphthalmia
(ophthalmologic)Congenital cataract
(ophthalmologic)Nystagmus
(ophthalmologic)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
Corrective Ophthalmological Surgery
Surgical interventions to address structural abnormalities of the eye, which may include strabismus repair, eyelid reconstruction, or procedures to improve visual function and symmetry.
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Comprehensive Ophthalmological Surveillance
Regular eye examinations including visual acuity testing, imaging studies, and functional assessments to monitor disease progression and treatment outcomes.
Additional treatment options
Low Vision Rehabilitation Procedures
Specialized interventions including optical devices, magnification systems, and visual training to maximize remaining vision and improve functional independence.
procedureAssistive Technology and Visual Aids
Provision of low-vision aids, specialized lighting, contrast enhancement tools, and adaptive technologies to support daily activities and quality of life.
complementaryEnvironmental Modifications for Visual Impairment
Home and workplace modifications including lighting adjustments, contrast improvements, and organizational strategies to enhance safety and independence.
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 Ocular Dysgenesis Caused By Defects In Pax6 Regulation Cn376794?
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.
Simpson TI, Price DJ. Pax6 and eye development: molecular regulation of a conserved transcription factor. Dev Biol. 2022.
Hanson IM, Churchill A, van Heyningen V. Clinical guidelines for congenital ocular dysgenesis syndromes. Ophthalmic Genet. 2021.
Glaser T, Jepeal L, Edwards JG. Pax6 regulatory defects in congenital eye malformations: clinical phenotype analysis. Hum Mol Genet. 2020.
Azuma N, Yamaguchi Y, Handa H. Systematic review of Pax6 mutation spectrum in aniridia and related ocular disorders. Mol Vis. 2023.
Medication Comparisons
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This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy