# Pediatric Usher Syndrome Type 2A with Coexisting Rheumatic Heart Disease and Upper Gastro-Intestinal Bleed: A Case Report

## TL;DR

A 10-year-old girl with Usher syndrome type IIA is reported, highlighting the importance of early diagnosis to prevent blindness.

## Contribution

This case emphasizes the need for early identification of Usher syndrome to improve outcomes through timely interventions.

## Key findings

- Usher syndrome type IIA was diagnosed in a 10-year-old girl using whole exome sequencing.
- Delayed visual symptoms can lead to misdiagnosis as isolated deafness in early childhood.
- Early diagnosis may allow genetic therapies to preserve vision and delay blindness.

## Abstract

Usher syndrome is a rare autosomal recessive disorder characterized by progressive sensorineural hearing loss and retinitis pigmentosa, typically present from birth and later symptoms, including loss of night vision and peripheral vision slowly progressing to blindness. The condition exhibits clinical and genetic diversity and currently lacks the definitive treatment. This report presents a case of a ten-year-old female diagnosed with Usher syndrome type IIA via whole exome sequencing. The delayed onset of visual symptoms often leads to a misdiagnosis to isolated deafness in early years. The early identification allows for better prognosis through surveillance and intervention in hearing and visual impairments. If usher patients can receive a timely diagnosis, genetic molecular therapies may help preserve the photoreceptors, subsequently development of blindness could be delayed or possibly be prevented.