Chinese expert consensus on diagnosis and treatment of Leber congenital amaurosis (2023)

Leber congenital amaurosis (LCA) is a group of early-onset hereditary retinal dystrophies characterized by genetic and phenotypic heterogeneity.LCA can cause severe visual impairment and shows a certain genotype-phenotype correlation, and its diagnosis and treatment face many challenges.On one hand, because LCA is a rare disease, most ophthalmologists are not familiar with its clinical manifestations, and misdiagnosis is very common.On the other hand, some clinical trials of gene therapy for LCA have been initiated, and breakthroughs have been achieved, requiring ophthalmologists to have a deeper understanding of the disease in order to make treatment available to more patients.Due to the lack of basic knowledge about LCA, the diagnosis and treatment methods for LCA are not widely used in China.The Chinese Hereditary Ocular Disease Alliance has organized relevant experts to form an expert consensus group, to fully collect the major challenges faced by ophthalmologists in diagnosing and treating LCA.Based on a careful review of relevant important literature at home and abroad, the achievements of the expert group members in relevant clinical and basic research, as well as their clinical practice experience, the Chinese Expert Consensus on the clinical manifestations, diagnosis and differential diagnosis, gene testing strategies, and treatment plans of LCA was completed to guide the medical practice of ophthalmologists in China.

Leber congenital amaurosis; Early-onset severe retinitis pigmentosa; Gene therapy; Genotype; Phenotype; Expert consensus