Expert consensus on diagnosis and treatment of achromatopsia in China (2025)

DOI: 10.3760/cma.j.cn115989-20250429-00140

Citation

Chinese Hereditary Ocular Disease Diagnosis and Treatment Group, Chinese Hereditary Ocular Disease Alliance, Expert Workgroup of Expert consensus on diagnosis and treatment of achromatopsia in China (2025). Expert consensus on diagnosis and treatment of achromatopsia in China (2025)[J]. Chin J Exp Ophthalmol, 2025, 43(10):881-889. DOI: 10.3760/cma.j.cn115989-20250429-00140.

Achromatopsia (ACHM) is a recessive inherited disorder characterized by cone photoreceptor dysfunction, with primary clinical manifestations including photophobia, nystagmus, reduced visual acuity, and color vision abnormalities.To date, six causative genes associated with this condition have been identified, most of which play critical roles in the phototransduction pathway.Over 80% of cases are attributed to variations in the CNGA3 or CNGB3 genes.ACHM is a rare disease with an extremely low prevalence, so most ophthalmologists have limited understanding of its pathogenesis, disease progression, and clinical manifestations.This often leads to misdiagnosis or underdiagnosis.In recent years, extensive clinical and basic research on the diagnosis and treatment of ACHM has been conducted in China, resulting in substantial practical experience.As gene therapy clinical trials for ACHM gradually advance, it is essential for ophthalmologists to deepen their understanding of the fundamental concepts, diagnostic approaches, and therapeutic strategies for this condition, thereby providing more patients with access to treatment.To enhance the diagnostic and therapeutic standards for ACHM in China, our expert panel has meticulously reviewed relevant domestic and international literature and integrated our clinical experience from recent years to compile the Expert consensus on diagnosis and treatment of achromatopsia in China (2025). This consensus encompasses the clinical manifestations, diagnostic and differential diagnostic criteria, genetic testing strategies, and treatment options for ACHM, aiming to raise ophthalmologists’ awareness of the disease and standardize its diagnostic and therapeutic processes.

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