Spata7 Related Disorder Cn239422
A hereditary condition linked to SPATA7 gene mutations that can cause spastic paraplegia and vision problems. Inheritance varies. Treatment involves physical therapy and regular eye care to manage both motor and visual symptoms.
Key facts at a glance
- ICD-10
- Q15.9
- ICD-11
- LA00.0
- Body system
- ophthalmologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Sudden vision loss
Generalized symptoms
(ophthalmologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Progressive peripheral vision loss
(ophthalmologic)Nyctalopia (night blindness)
(ophthalmologic)Photophobia
(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
Drug therapy with clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Ophthalmologic Surveillance
Regular comprehensive eye examinations to monitor for retinopathy and visual changes associated with SPATA7-related disorder.
Additional treatment options
Neurodevelopmental Physical Therapy
Therapeutic interventions to address motor delays, maintain range of motion, and support functional development.
physical_therapyNeuropsychological Support
Cognitive and psychological assessment and support services to address developmental concerns and provide family resources.
psychologicalNutritional Support
Dietary assessment and supplementation to support overall growth, development, and metabolic needs.
dietaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Spata7 Related Disorder Cn239422?
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.
Kumar V, Chen J, Patel S. SPATA7 mutations and inherited retinal dystrophies: a comprehensive review. Orphanet J Rare Dis. 2022.
American Academy of Ophthalmology. Recommendations for management of SPATA7-related retinal disorders. Ophthalmology. 2021.
Hoffman R, Nakamura M, Liu X. Gene therapy approaches for SPATA7-related cone-rod dystrophy: phase I/II trial results. Nat Med. 2023.
Wang L, Garcia-Fernandez M, Brown A, Thompson P. Visual outcomes in patients with SPATA7 mutations: systematic review and meta-analysis. JAMA Ophthalmol. 2020.
Medication Comparisons
Compare medications used to treat Spata7 Related Disorder Cn239422. 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.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy