Background

Type 1 Usher syndrome (USH1) is a rare disease and major cause of genetic deaf-blindness. Deafness is present from birth while retinitis pigmentosa (RP) which typically presents during childhood is progressive leading to blindness. The aim of this research was to develop a disease model describing USH1 symptoms and their impact on patients’ lives.

Materials and Methods

Qualitative interviews were conducted with patients (pediatric and adult) and parents of children and adolescents with USH1. Interviewed subjects were enrolled through ophthalmologists from specialized eye centers in the USA and in France. Trained interviewers used semi-structured techniques to elicit concepts relevant to patients and their parents. Thematic analysis of interview transcripts led to the identification of concepts which were organized to generate a disease model.

Results

A total of 18 patients (7 in the US; 11 in France)– 9 adults, 4 adolescents, and 5 children– and 9 mothers were interviewed. The most cited ocular symptoms were difficulty seeing at night and loss of peripheral vision. Interviewees reported limitations on Physical (e.g. difficulty moving), Mental (e.g. fear about falling), Social (e.g. difficulty discussing disease with others) and Role (e.g. difficulties at school/work) functioning. These impacts were, when possible, mitigated by coping strategies and support (e.g. using electronic devices, having a positive/proactive attitude).

Conclusions

This research provides an overview of symptoms experienced by patients with USH1 and highlights the dramatic impact these have on patients’ lives, allowing the identification of concepts of importance when evaluating therapeutic treatments in development for RP.

中文翻译：

---

患有I型Usher综合征：患者及其父母的见解。

背景

1型Usher综合征（USH1）是一种罕见疾病，是遗传性聋的主要原因。出生时会出现耳聋，而儿童时期通常出现的色素性视网膜炎（RP）则逐渐导致失明。这项研究的目的是建立一种描述USH1症状及其对患者生活影响的疾病模型。

材料和方法

对患者（儿童和成人）以及患有USH1的儿童和青少年的父母进行了定性访谈。来自美国和法国的专门眼科中心的眼科医生通过访谈录入了受试者。受过训练的访问员使用半结构化技术来得出与患者及其父母有关的概念。采访记录的主题分析导致对概念的识别，这些概念被组织以生成疾病模型。

结果

总共采访了18位患者（美国7位；法国11位）– 9位成人，4位青少年和5位儿童– 9位母亲。被引用最多的眼部症状是晚上看不清楚和周围视力丧失。受访者报告了身体（例如移动困难），心理（例如担心跌倒），社交（例如与他人讨论疾病的困难）和角色（例如在学校/工作中的困难）功能方面的限制。在可能的情况下，可以通过应对策略和支持（例如，使用具有积极/积极态度的电子设备）来减轻这些影响。

结论

这项研究概述了USH1患者所经历的症状，并强调了这些症状对患者生活的巨大影响，从而可以在评估RP的发展中的治疗方法时确定重要的概念。