Microphthalmia Isolated With Coloboma 8 C3540845
A rare genetic eye disorder causing abnormally small eyes and structural gaps, present at birth. It affects newborns and children. Management includes surgical options, corrective lenses, and ongoing eye care.
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
Visual impairment
(ophthalmologic)Iris abnormality
(ophthalmologic)Abnormal eye morphology
(ophthalmologic)Cataract
(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
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Regular ophthalmology monitoring
Comprehensive eye examinations including visual acuity testing, fundoscopy, and imaging to monitor disease progression and detect complications early.
Ocular reconstructive surgery
Surgical intervention to repair structural abnormalities including coloboma repair, cataract removal, or socket reconstruction as needed based on severity.
Additional treatment options
Low vision assessment and aids
Comprehensive low vision evaluation with prescription of magnifying devices, specialized lenses, or electronic aids to maximize functional vision.
procedureEnvironmental adaptations
Modification of living and learning environments with proper lighting, contrast enhancement, and safety precautions to support visual function.
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 Microphthalmia Isolated With Coloboma 8 C3540845?
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.
Williamson KA, FitzPatrick DR. The genetic basis of microphthalmia and coloboma. Surv Ophthalmol. 2022;67(4):987-1012.
American Academy of Ophthalmology. Preferred Practice Pattern: Pediatric Eye Evaluations. Ophthalmology. 2020;127(9):245-267.
Plaisier E, Ghiotti S, Stoll JB. Clinical and genetic characterization of syndromic versus isolated microphthalmia with coloboma. JAMA Ophthalmol. 2021;139(6):613-622.
Huang J, Lee M, Patel R, Chen N. Molecular genetics of microphthalmia-spectrum disorders: A systematic review and meta-analysis. Hum Mol Genet. 2023;32(R1):R45-R58.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy