Achromatopsia (ACHM) is a rare inherited retinal disorder characterized by partial or complete color blindness, which impacts individuals' quality of life and daily functioning. This review delves into the genetic basis, diagnostic innovations, and therapeutic prospects associated with ACHM. The main objective is to comprehensively explore the current understanding of ACHM, including genetic mutations, diagnostic techniques, and management approaches, while also discussing potential therapeutic interventions. Achromatopsia primarily results from mutations in genes encoding cone photoreceptor proteins, such as GNAT2, ATF6, PDE6H, PDE6C, CNGA3, and CNGB3. Various diagnostic methods, including electroretinography (ERG) and optical coherence tomography (OCT), are pivotal in confirming ACHM diagnosis by assessing cone function and structural abnormalities in dysfunctional cone cells. This review also highlights gene therapy interventions aimed at restoring cone function, highlighting promising advancements in preclinical and clinical settings. Additionally, it discusses the clinical features of ACHM, such as reduced visual acuity, photophobia, and color vision impairment, emphasizing the need for tailored management strategies to increase patients' quality of life. This review underscores the complex genetic landscape of ACHM and the importance of accurate diagnosis through advanced diagnostic modalities such as ERG and OCT. While there is currently no cure for ACHM, management approaches focus on symptom alleviation and improving patients' daily functioning. Gene therapy has emerged as a promising avenue for potential treatment, with ongoing research aiming to address the underlying genetic defects and restore cone photoreceptor function. The findings of this review hold clinical relevance by providing insights into the pathogenesis, diagnosis, and management of ACHM, guiding healthcare professionals in delivering personalized care to affected individuals. Continued research and advancements in gene therapy offer hope for future therapeutic interventions, highlighting the importance of updating the latest developments in the field of ACHM.
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