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Usher Syndrome and Color Vision
Anne Kurtenbach1, Gesa Hahn1, Christoph Kernstock1
1a Centre for Ophthalmology, Institute for Ophthalmic Research , University of Tuebingen , Tuebingen , Germany.
Current Eye Research
|July 18, 2018
Summary
Color vision loss patterns differ between Usher syndrome types 1 and 2, with Usher syndrome type 2 showing age-related changes. Usher syndrome severity is similar across types.
Area of Science:
- Ophthalmology
- Genetics
- Vision Science
Background:
- Usher syndrome (USH) is a leading cause of hereditary blindness.
- It is characterized by progressive vision loss and hearing impairment.
- Understanding subtype-specific visual deficits is crucial for patient management.
Purpose of the Study:
- To investigate color vision deficits in a European cohort of Usher syndrome patients.
- To analyze results based on Usher syndrome subtypes (USH1 and USH2), age, and visual acuity.
Main Methods:
- Color vision was assessed in 220 genetically confirmed adult USH patients using Farnsworth D-15, Lanthony desaturated 15 Hue, or Ishihara tests.
- Visual acuity was measured using ETDRS or SNELLEN charts.
- Confusion and Selectivity indices were calculated for panel tests.
Main Results:
- The degree of color vision loss was similar between USH1 and USH2.
- USH1 patients exhibited more diffuse color vision errors (lower Selectivity index) compared to USH2.
- A significant correlation between age and color vision loss was found only in USH2 patients.
Conclusions:
- There are distinct patterns of color vision loss in USH1 and USH2, despite similar severity.
- Age influences color vision deficits in USH2, suggesting subtype-specific pathogenic mechanisms.
- These findings aid in understanding the progression of retinal dystrophy in Usher syndrome.
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