Chinese expert consensus on the clinical diagnosis and treatment of autosomal dominant optic atrophy (2024)

Autosomal dominant optic atrophy (ADOA) primarily affects retinal ganglion cells and their axons, resulting in varying degrees of central vision loss from childhood. Due to the rarity of ADOA in clinical practice, Chinese ophthalmologists currently lack sufficient understanding of the disease and experience non-standardized diagnostic procedures and high clinical and genetic misdiagnosis rates. To address these issues, the Ophthalmology Group of China Alliance for Rare Diseases/Beijing Society of Rare Disease Clinical Care and Accessibility and the Neuro-ophthalmology Group of Ophthalmology Branch of Chinese Medical Association have established an expert panel to form consensus opinions based on extensive discussions. This consensus would enhance the knowledge and diagnostic capabilities of Chinese clinicians regarding ADOA and promote awareness of related treatment principles and genetic counseling.

Medienart:

E-Artikel

Erscheinungsjahr:

2024

Erschienen:

2024

Enthalten in:

Zur Gesamtaufnahme - volume:60

Enthalten in:

Zhonghua yan ke za zhi] Chinese journal of ophthalmology - 60(2024), 3 vom: 11. März, Seite 226-233

Sprache:

Chinesisch

Beteiligte Personen:

Ophthalmology Group of China Alliance for Rare Diseases/Beijing Society of Rare Disease Clinical Care and Accessibility [VerfasserIn]
Neuro-ophthalmology Group of Ophthalmology Branch of Chinese Medical Association [VerfasserIn]

Links:

Volltext

Themen:

EC 3.6.1.-
English Abstract
GTP Phosphohydrolases
Journal Article

Anmerkungen:

Date Completed 12.03.2024

Date Revised 12.03.2024

published: Print

Citation Status MEDLINE

doi:

10.3760/cma.j.cn112142-20231225-00308

funding:

Förderinstitution / Projekttitel:

PPN (Katalog-ID):

NLM369520963