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CO-OCCURRING USHER SYNDROME TYPE 1 AND RENAL FAILURE
Hong Le1, Helen Anderson2, Glydel Lopez1
1Virginia Commonwealth University School of Medicine, Richmond, Virginia.
Retinal Cases & Brief Reports
|March 12, 2024
Summary
This study details a rare case of Usher syndrome type 1C co-occurring with renal disease, possibly Alport syndrome. Genetic analysis revealed a novel USH1C variant and a COL4A3 variant, emphasizing the need for thorough investigation of combined genetic conditions.
Area of Science:
- Ophthalmology
- Genetics
- Nephrology
Background:
- Usher syndrome is a genetic disorder causing hearing and vision loss.
- Renal disease can occur in some genetic syndromes.
- Co-occurrence of Usher syndrome and renal disease is rare.
Purpose of the Study:
- To describe a patient with Usher syndrome type 1C and renal disease.
- To investigate the potential genetic link between these conditions, suspecting Alport syndrome.
Main Methods:
- Case report and literature review.
- Clinical examination, fundus photography, visual field tests, electroretinography.
- Whole-exome sequencing for genetic variant identification.
Main Results:
- An 18-year-old female presented with hearing loss, renal failure, and progressive visual impairment.
- Diagnosis of Usher syndrome confirmed by clinical findings and electroretinography.
- Whole-exome sequencing identified a novel USH1C variant and a COL4A3 variant of unknown significance.
Conclusions:
- Presents a rare case of co-occurring Usher syndrome Type 1 and renal failure.
- Highlights the importance of investigating underlying etiologies in patients with combined genetic conditions.
- Suggests potential for Alport syndrome due to COL4A3 variant.
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