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Related Experiment Videos

Ocular phenotype in partial trisomy 10 q.

L Prosperi, S Bernasconi, A Forabosco

    Ophthalmologica. Journal International D'Ophtalmologie. International Journal of Ophthalmology. Zeitschrift Fur Augenheilkunde
    |January 1, 1977
    PubMed
    Summary
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    Partial trisomy 10q presents significant ocular challenges beyond external appearance. This study evaluates visual function in a living child using subjective and objective methods for a comprehensive understanding.

    Area of Science:

    • Ophthalmology
    • Clinical Genetics
    • Pediatric Medicine

    Background:

    • Partial trisomy 10q is a rare chromosomal abnormality.
    • Existing literature on ocular manifestations primarily focuses on external features.
    • A comprehensive understanding of visual function is lacking.

    Observation:

    • The case of a living child with partial trisomy 10q is presented.
    • Visual function was assessed using both subjective (behavioral) and objective (electrophysiological) methods.
    • This approach allows for a detailed evaluation of the visual system.

    Findings:

    • Electrophysiological testing revealed specific visual pathway impairments.
    • Subjective assessments correlated with objective findings, providing a functional correlate.

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  • The study highlights the importance of a multi-faceted approach to visual assessment.

    • Implications:

    • This case report expands the understanding of ocular manifestations in partial trisomy 10q.
    • Early and comprehensive visual assessment is crucial for affected children.
    • Findings can inform clinical management and genetic counseling for partial trisomy 10q.