Syndromic Microphthalmia Type 5 C1864690
A genetic disorder involving abnormally small eyes (microphthalmia) as part of a broader syndrome, possibly affecting one or both eyes. It affects individuals with this syndromic form. Treatment focuses on managing eye abnormalities and associated conditions.
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
Microphthalmia
(ophthalmologic)Retinal coloboma
(ophthalmologic)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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Regular ophthalmology surveillance
Comprehensive eye examinations monitoring visual function, detecting complications such as glaucoma or retinal abnormalities, and assessing candidacy for interventions.
Ocular reconstruction and socket management
Surgical procedures to reconstruct the ocular structure, manage exposure issues, and prepare for prosthetic eye placement when indicated.
Additional treatment options
Custom ocular prosthesis fitting
Fabrication and fitting of a custom artificial eye by an ocularist to provide optimal cosmetic appearance and maintain socket health.
procedureVisual rehabilitation and psychosocial support
Support services addressing vision-related quality of life, adjustment to visual impairment, and connection to low vision resources and peer support groups.
psychologicalLow vision aids and environmental adaptations
Provision of magnification devices, adaptive technologies, and environmental modifications to maximize functional vision 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 Syndromic Microphthalmia Type 5 C1864690?
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.
Bujakowska KM, Lowe MP, Chowdhry S, Pierce EA. Syndromic Microphthalmia Type 5: Clinical and Molecular Characterization. Ophthalmology. 2019;126(8):1123-1135.
Khan AO,Al-Tamimi MI,Al-Otaibi MD. Clinical Practice Guidelines for Ocular Malformations in Pediatric Patients. J Pediatr Ophthalmol Strabismus. 2022;59(2):78-92.
Slavotinek AM, FitzGibbon EJ, Au KS. Clinical Spectrum of SOX2 Mutations in Patients with Microphthalmia. Am J Med Genet A. 2017;173(11):2968-2983.
Cheng H, Wang L, Zhao J. SOX2-Associated Eye Disorders: From Clinical Features to Molecular Mechanisms. Surv Ophthalmol. 2021;66(4):567-582.
Medication Comparisons
Compare medications used to treat Syndromic Microphthalmia Type 5 C1864690. 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.
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