CYCLIN DEPENDENT KINASE INHIBITOR 2B (CDKN2B) GENE MUTATION PROFILERS1063192 PRIMARY OPEN ANGLE GLAUCOMA PATIENTS

Arina Indira Dewiyani, dr. Krisna Dwi Purnomo Jati, Sp. M. ; dr. Supanji, Sp. M(K), M.Kes., Ph.D.

2025 | Skripsi | PENDIDIKAN DOKTER

Precision medicine menekankan pendekatan individual dalam pelayanan kesehatan dengan mengintegrasikan data klinis, gaya hidup, genetik, dan biomarker, sehingga mendukung tatalaksana glaucoma yang lebih personal. Perkembangan kecerdasan buatan (artificial intelligence/AI), khususnya convolutional neural networks (CNN), memungkinkan analisis citra oftalmologi secara mendalam untuk mendeteksi perubahan glaukomatosa secara akurat. Glaukoma merupakan neuropati optik progresif yang ditandai oleh degenerasi sel ganglion retina dan penipisan lapisan serabut saraf retina, yang umumnya berhubungan dengan peningkatan tekanan intraokular.

Faktor genetik berperan penting, terutama pada glaukoma onset dini, dengan gen utama yang terlibat antara lain MYOC, OPTN, TBK1, dan CDKN2B. Mutasi pada OPTN berkontribusi terhadap gangguan autofagi dan penurunan kelangsungan hidup sel ganglion retina, sehingga menyebabkan kerusakan saraf optik. Integrasi analisis citra berbasis AI dengan profil genetik mendukung penerapan precision medicine dalam deteksi dini dan stratifikasi risiko glaukoma, yang menjadi semakin penting mengingat meningkatnya prevalensi glaukoma secara global, terutama di Asia dan Afrika.

Precision medicine emphasizes individualized healthcare by integrating clinical, lifestyle, genetic, and biomarker data, offering a more personalized approach to glaucoma management. Advances in artificial intelligence (AI), particularly convolutional neural networks (CNNs), have enhanced the ability to analyze ophthalmic images and detect glaucomatous changes with high accuracy. Glaucoma is a progressive optic neuropathy characterized by retinal ganglion cell degeneration and retinal nerve fiber layer loss, often associated with elevated intraocular pressure (IOP).

Genetic factors play a significant role, especially in early-onset glaucoma, with key genes including MYOC, OPTN, TBK1, and CDKN2B. Mutations in OPTN are implicated in impaired autophagy and retinal ganglion cell survival, contributing to optic nerve damage. Additionally, polymorphisms within the CDKN2B/CDKN2B-AS1 locus have been associated with primary open-angle glaucoma (POAG) through dysregulation of cell cycle control. Integrating AI-based imaging with genetic profiling supports a precision medicine approach, which is increasingly important given the rising global prevalence of glaucoma, particularly in Asia and Africa.

Kata Kunci : Open Angle Glaucoma, POAG, Cyclin Dependent Kinase Inhibitor Gene, CDKN, CDKN2B, Glaucoma