PDF(Pubmed)
Abstract：
Non-syndromic inherited retinal dystrophies (IRDs) such as retinitis pigmentosa or Leber congenital amaurosis generally manifest between early childhood and late adolescence, imposing profound long-term impacts as a result of vision impairment or blindness. IRDs are highly heterogeneous, with often overlapping symptoms among different IRDs, and achieving a definite diagnosis is challenging. This narrative review provides a clinical overview of the non-syndromic generalized photoreceptor dystrophies, particularly retinitis pigmentosa and Leber congenital amaurosis. The clinical investigations and genetic testing needed to establish a diagnosis are outlined, and current management approaches are discussed, focusing on the importance of the involvement of an interdisciplinary team from diagnosis and initial care to long-term follow-up and support.
The effective management of IRDs requires a multidisciplinary, and ideally interdisciplinary, team of experts knowledgeable about IRDs, with experienced professionals from fields as diverse as ophthalmology, neuropsychiatry, psychology, neurology, genetics, orthoptics, developmental therapy, typhlology, occupational therapy, otolaryngology, and orientation and mobility specialties. Accurate clinical diagnosis encompasses a range of objective and subjective assessments as a prerequisite for the genetic testing essential in establishing an accurate diagnosis necessary for the effective management of IRDs, particularly in the era of gene therapies. Improvements in genome sequencing techniques, such as next-generation sequencing, have greatly facilitated the complex process of determining IRD-causing gene variants and establishing a molecular diagnosis. Genetic counseling is essential to help the individual and their family understand the condition, the potential risk for offspring, and the implications of a diagnosis on visual prognosis and treatment options. Psychological support for patients and caregivers is important at all stages of diagnosis, care, and rehabilitation and is an essential part of the multidisciplinary approach to managing IRDs. Effective communication throughout is essential, and the patient and caregivers\' needs and expectations must be acknowledged and discussed.
As IRDs can present at an early age, clinicians need to be aware of the clinical signs suggesting visual impairment and follow up with multidisciplinary support for timely diagnoses to facilitate appropriate therapeutic or rehabilitation intervention to minimize vision loss.
The effective management of IRDs requires a multidisciplinary, and ideally interdisciplinary, team of experts knowledgeable about IRDs, with experienced professionals from fields as diverse as ophthalmology, neuropsychiatry, psychology, neurology, genetics, orthoptics, developmental therapy, typhlology, occupational therapy, otolaryngology, and orientation and mobility specialties. Accurate clinical diagnosis encompasses a range of objective and subjective assessments as a prerequisite for the genetic testing essential in establishing an accurate diagnosis necessary for the effective management of IRDs, particularly in the era of gene therapies. Improvements in genome sequencing techniques, such as next-generation sequencing, have greatly facilitated the complex process of determining IRD-causing gene variants and establishing a molecular diagnosis. Genetic counseling is essential to help the individual and their family understand the condition, the potential risk for offspring, and the implications of a diagnosis on visual prognosis and treatment options. Psychological support for patients and caregivers is important at all stages of diagnosis, care, and rehabilitation and is an essential part of the multidisciplinary approach to managing IRDs. Effective communication throughout is essential, and the patient and caregivers\' needs and expectations must be acknowledged and discussed.
As IRDs can present at an early age, clinicians need to be aware of the clinical signs suggesting visual impairment and follow up with multidisciplinary support for timely diagnoses to facilitate appropriate therapeutic or rehabilitation intervention to minimize vision loss.
摘要：
非综合征性遗传性视网膜营养不良（IRD），如色素性视网膜炎或莱伯先天性黑蒙通常表现在儿童早期和青春期后期，由于视力障碍或失明而造成深远的长期影响。IRDs是高度异质的，不同的IRD之间的症状经常重叠，实现明确的诊断是具有挑战性的。这篇叙述性综述提供了非综合征性广泛性光感受器营养不良的临床概述，特别是视网膜色素变性和Leber先天性黑蒙。概述了建立诊断所需的临床调查和基因检测，并讨论了当前的管理方法，重点关注从诊断和初始护理到长期随访和支持的跨学科团队参与的重要性。
IRD的有效管理需要多学科，理想情况下是跨学科的，了解IRD的专家团队，拥有来自眼科等不同领域的经验丰富的专业人士，神经精神病学,心理学,神经学,遗传学,正交光学，发育疗法,伤病学,职业治疗,耳鼻喉科,以及定向和移动性专业。准确的临床诊断包括一系列客观和主观评估，作为建立有效管理IRD所需的准确诊断所必需的基因检测的先决条件，尤其是在基因疗法的时代。基因组测序技术的改进，比如下一代测序，极大地促进了确定引起IRD的基因变体和建立分子诊断的复杂过程。遗传咨询对于帮助个人及其家人了解病情至关重要，后代的潜在风险，以及诊断对视觉预后和治疗选择的影响。对病人和照顾者的心理支持在诊断的各个阶段都很重要,care,和康复，是管理IRD的多学科方法的重要组成部分。整个过程中的有效沟通至关重要，患者和护理人员的需求和期望必须得到承认和讨论。
由于IRD可以在早期出现，临床医生需要了解提示视力损害的临床体征,并在多学科支持下进行随访,以便及时诊断,以促进适当的治疗或康复干预,从而最大限度地减少视力丧失.
IRD的有效管理需要多学科，理想情况下是跨学科的，了解IRD的专家团队，拥有来自眼科等不同领域的经验丰富的专业人士，神经精神病学,心理学,神经学,遗传学,正交光学，发育疗法,伤病学,职业治疗,耳鼻喉科,以及定向和移动性专业。准确的临床诊断包括一系列客观和主观评估，作为建立有效管理IRD所需的准确诊断所必需的基因检测的先决条件，尤其是在基因疗法的时代。基因组测序技术的改进，比如下一代测序，极大地促进了确定引起IRD的基因变体和建立分子诊断的复杂过程。遗传咨询对于帮助个人及其家人了解病情至关重要，后代的潜在风险，以及诊断对视觉预后和治疗选择的影响。对病人和照顾者的心理支持在诊断的各个阶段都很重要,care,和康复，是管理IRD的多学科方法的重要组成部分。整个过程中的有效沟通至关重要，患者和护理人员的需求和期望必须得到承认和讨论。
由于IRD可以在早期出现，临床医生需要了解提示视力损害的临床体征,并在多学科支持下进行随访,以便及时诊断,以促进适当的治疗或康复干预,从而最大限度地减少视力丧失.
