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Early onset retinal dystrophies: clinical clues to diagnosis for pediatricians
Agnese Suppiej1,2, Silvia Marino3, Maria Eleonora Reffo4
1Department of Medical Sciences - Pediatric Section, University of Ferrara, Ferrara, Italy. agnese.suppiej@unife.it.
Insights
Early signs of inherited retinal dystrophy in children include nystagmus and vision loss, often appearing before age one. Recognizing these symptoms is crucial for timely diagnosis and intervention in pediatric vision care.
Area of Science:
- Ophthalmology
- Pediatric Genetics
- Clinical Diagnosis
Background:
- Inherited retinal dystrophies (IRDs) are a leading cause of childhood vision impairment.
- Early detection of IRDs is critical for effective visual rehabilitation and potential genetic therapies.
- Identifying initial symptoms aids pediatricians in suspecting IRDs.
Purpose of the Study:
- To characterize the pattern of initial visual symptoms in children with inherited retinal dystrophies.
- To provide guidance for pediatricians and primary care providers in early IRD identification.
Main Methods:
- Analysis of initial clinical symptoms reported by parents in 50 children diagnosed with retinal dystrophy.
- Symptoms were evaluated based on parental reports during the first specialist visit.
- Included subgroups: rod-cone dystrophy, cone-rod dystrophy, achromatopsia, congenital stationary night blindness, and Leber's congenital amaurosis.
Main Results:
- 80% of children presented symptoms before one year of age.
- Most frequent parental complaints: nystagmus (76%), visual loss (28%), and photophobia (8%).
- Nystagmus was the initial symptom for onset before six months; vision loss was more common for onset after six months.
Conclusions:
- Nystagmus and low vision in the first year of life are key indicators for inherited retinal dystrophy.
- These "red flag" symptoms warrant prompt ophthalmological evaluation.
- Early recognition facilitates timely diagnosis and management of pediatric retinal disorders.
Introduction:
Inherited retinal dystrophies are major cause of severe progressive vision loss in children. Early recognition and diagnosis are essential for timely visual rehabilitation during the appropriate stages of the visual development, as well as for genetic diagnosis and possible gene therapy. The aim of this study is to characterize a pattern of the initial visual symptoms, which could help the pediatricians and the primary care providers to suspect an inherited retinal disorder in its early stage.
Methods:
We analyzed the initial clinical symptoms, based on parental report during the first visit to specialist, in 50 children diagnosed with retinal dystrophy confirmed by full-field electroretinography. The analysis included the age of symptoms onset and the type of visual symptoms, both in the total population and in the following diagnostic subgroups: rod-cone dystrophy (n.17), cone-rod dystrophy (n.12), achromatopsia (n.13), congenital stationary night blindness (n.6) and Leber's congenital amaurosis (n.2).
Results:
The majority of children (80%) had the onset of clinical symptoms before one year of age. The most frequent visual complaints reported by parents were nystagmus (76%), visual loss (28%) and photophobia (8%). Nystagmus was the first symptom reported by parents if the disease onset was before the age of six months, while the onset after the six months of age was more likely associated with the complain of vision loss.
Conclusions:
Low vision and nystagmus observed by parents, particularly in the first year of life, may represent a red flag, prompting an appropriate ophthalmological workup for inherited retinal dystrophy.
