Diagnosis of Inherited Retinal Diseases

被引：18

作者：

Birtel, Johannes ^{[1
,2
,3
]}

Yusuf, Imran H. ^{[1
,2
]}

Priglinger, Claudia ^{[4
]}

Rudolph, Guenter ^{[4
]}

Issa, Peter Charbel ^{[1
,2
]}

机构：

[1] Oxford Univ Hosp NHS Fdn Trust, Oxford Eye Hosp, Oxford, England

[2] Univ Oxford, Nuffield Dept Clin Neurosci, Nuffield Lab Ophthalmol, Oxford, England

[3] Univ Bonn, Dept Ophthalmol, Bonn, Germany

[4] Ludwig Maximilians Univ Munchen, Dept Ophthalmol, Univ Hosp, Munich, Germany

来源：

KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE | 2021年 / 238卷 / 03期

基金：

英国医学研究理事会;

关键词：

inherited retinal diseases; retinitis pigmentosa; cone-rod dystrophy; diagnosis; imaging; genetic testing; PIGMENT EPITHELIAL ALTERATIONS; OPTICAL COHERENCE TOMOGRAPHY; STATIONARY NIGHT BLINDNESS; FUNDUS AUTOFLUORESCENCE; RETINITIS-PIGMENTOSA; CENTROSOMAL PROTEIN; MUTATIONS; GENE; PHENOTYPE; CHOROIDEREMIA;

D O I：

10.1055/a-1388-7236

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

Inherited retinal diseases are a frequent cause of severe visual impairment or blindness in children and adults of working age. Across this group of diseases, there is great variability in the degree of visual impairment, the impact on everyday life, disease progression, and the suitability to therapeutic intervention. Therefore, an early and precise diagnosis is crucial for patients and their families. Characterizing inherited retinal diseases involves a detailed medical history, clinical examination with testing of visual function, multimodal retinal imaging as well as molecular genetic testing. This may facilitate a distinction between different inherited retinal diseases, as well as a differentiation from monogenic systemic diseases with retinal involvement, and from mimicking diseases.

引用

页码：249 / 259

页数：11

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