Leber’s Hereditary Optic Neuropathy

Lia Meuthia Zaini

Abstract


Abstrak. Leber’s Hereditary Optic Neuropathy (LHON) adalah kelainan genetika mitokondria yang ditandai dengan adanya penurunan tajam penglihatan bilateral tanpa nyeri. Kelainan ini pertama kali ditemukan oleh Theodor Leber (1871), dimana sebagian besar kasus menyerang laki-laki usia 10-30 tahun. LHON berhubungan dengan mutasi DNA mitokondria, terutama pada nukleotida 11778. Beberapa kasus dapat pula disebabkan oleh mutasi pada nukleotida 3460 atau 14484. Manifestasi klinis yang dapat dijumpai adalah kehilangan tajam penglihatan mendadak (<2/20), progresif tanpa nyeri. Selain itu juga dapat ditemukan menurunnya refleks cahaya pada pupil, defek lapang pandangan, dan gangguan penglihatan warna merah hijau. Gambaran fundus dapat terlihat hiperemi dan elevasi diskus optik, penebalan peripapil retina (pseudoedema), telangiektasia peripapil, dan arteriol retina berkelok. Diagnosis ditegakkan berdasarkan manifestasi klinis dan pemeriksaan penunjang yang kompleks. Antioksidan, vitamin B12 dan asam folat telah digunakan, namun tidak menunjukkan hasil yang baik.Berbagai strategi pengobatan seperti terapi gen dan obat-obatan lain masih dalam tahap penelitian.

Abstract. Leber’s Hereditary Optic Neuropathy (LHON) is mitochondrial genetic disease characterized by a bilateral painless loss of vision, which firstly described by Theodore Leber in 1871. This disease typically affects males age 10-30 years. LHON is related to mitochondria DNA mutations, most frequently at the nucleotides 11778, less commonly at the nucleotides 3460 and 14484. The syndrome presents with acute severe painless loss of vision (<2/20, decrease pupillary reflex, visual field defect, and red green color vision defect. The classic fundus appearance includes hyperemia and elevation of the optic disc, thickening of the peripapillary retina (pseudoedema), peripapillary telangiectasia, and tortuosity of the retinal arterioles. Diagnosis made by clinical manifestations and complex investigations. Antioxidants, vitamin B12, and folic acid have been used, but no definite benefit has been shown. Various promising strategies of therapy for LHON, such as gene therapy and pharmacologic agents, are presently being investigated.


Keywords


Leber’s hereditary optic neuropathy; hereditary optic neuropathies; mitochondria DNA; Leber’s hereditary optic neuropathy; hereditary optic neuropathies; DNA mitokondria

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References


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