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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.
Insights
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.
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.
Purpose:
Inherited retinal diseases (IRDs) are among the most common causes of visual impairment in children and young adults. The aim of this study was to characterize early clinical manifestations, main IRDs, and causative genes in a pediatric cohort.
Methods:
Retrospective study case series of children with a diagnosed IRD. Data extracted from medical charts included IRD type, clinical manifestations, demographic details, and molecular analysis when available.
Results:
The authors have identified 199 children. The earliest and most common symptom was nystagmus (mean age: 1.78 years), followed by photophobia, strabismus, and high refractive errors. The most common diagnoses were retinitis pigmentosa, achromatopsia, and congenital stationary night blindness; achromatopsia and Leber congenital amaurosis presented significantly earlier than other IRDs. Most common identified genes were CNGA3 , TRPM1 , CNGB3 , and CRB1 .
Conclusion:
Nystagmus was the earliest and most common symptom, particularly if disease manifests during the first year of life. Photophobia, strabismus, and high refractive errors were also common. Main IRDs in their studied population were retinitis pigmentosa, achromatopsia, and congenital stationary night blindness, and the most common genes identified were CNGA3 and TRPM1 , differing from the ones seen later in adulthood. Identification of IRDs' early clinical manifestations can help affected families reach early diagnosis, support, and family planning.
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