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ANTI-VEGF THERAPY SWITCHING RETINAL DISEASES: Characterizing Clinical Manifestations and Common Involved Genes.

Ben Ezra Kahtan¹, Rotem Azmon¹, Karen Hendler²

¹Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel ; and.

Retina (Philadelphia, Pa.)

|January 6, 2026

Summary

This summary is machine-generated.

Nystagmus is the earliest sign of inherited retinal diseases (IRDs) in children. Early identification of IRDs like retinitis pigmentosa and achromatopsia aids diagnosis and family planning.

Keywords:

EORDs IRDs in children early manifestations in IRDs pediatric inherited retinal diseases

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Area of Science:

Ophthalmology
Genetics
Pediatrics

Background:

Inherited retinal diseases (IRDs) are a leading cause of vision loss in pediatric populations.
Understanding early symptoms is crucial for timely intervention.

Purpose of the Study:

To characterize early clinical signs of IRDs in children.
To identify prevalent IRD types and their genetic causes in a pediatric cohort.

Main Methods:

Retrospective case series analysis of 199 children diagnosed with IRDs.
Data collection included IRD type, clinical features, demographics, and genetic testing results.

Main Results:

Nystagmus was the most frequent early symptom (mean age 1.78 years), followed by photophobia, strabismus, and high refractive errors.
Retinitis pigmentosa, achromatopsia, and CSNB were the most common IRDs; achromatopsia and Leber's congenital amaurosis presented earliest.
CNGA3, TRPM1, CNGB3, and CRB1 were the most frequently identified causative genes.

Conclusions:

Nystagmus is a key early indicator of IRDs, especially when onset is within the first year of life.
Early detection of IRDs through recognizing clinical manifestations facilitates prompt diagnosis and support for affected families.