Jalili Syndrome C3495589
Jalili Syndrome is a rare genetic condition combining an inherited eye disease causing vision loss with a tooth enamel disorder. Ophthalmologists and dentists provide coordinated care for affected individuals.
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
Visual loss
Optic nerve atrophy
Generalized symptoms
(ophthalmologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Photophobia
(ophthalmologic)Retinal pigmentary changes
(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 and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Ophthalmology care
Regular ophthalmologic evaluations to monitor cone-rod dystrophy progression and manage vision loss with assistive devices and low-vision rehabilitation services.
Dental rehabilitation
Comprehensive dental care addressing amelogenesis imperfecta through restorative procedures, crowns, and preventive oral health maintenance.
Additional treatment options
Nephrology management
Regular kidney function monitoring including urinalysis, blood pressure checks, and imaging to detect and manage renal abnormalities associated with the syndrome.
monitoringGenetic counseling
Family genetic counseling to understand inheritance patterns, discuss recurrence risks, and explore reproductive options for affected individuals.
psychologicalMultidisciplinary support care
Coordinated care involving genetics, ophthalmology, nephrology, and dental specialists to address all aspects of this rare multisystem disorder.
complementaryMedication Comparisons
Compare medications used to treat Jalili Syndrome C3495589. 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