Medikal Retina
Derleme
Printed Date: 15.11.2021
Other Hereditary Syndromes Associated with Secondary Optic Atrophy
Abstract
Optic neuropathy is a cause that seriously impairs vision loss, which we frequently encounter in ophthalmology practice. Although it is frequently seen with eye diseases such as glaucoma, it can also be seen together with systemic neurodegenerative syndromes. In this review, we have included some rare syndromes that cause genetically inherited optic atrophy. In these syndromes, the structure of the encoded proteins is disrupted as a result of mutated genes. Cellular disorder is reflected in the phenotype by affecting the related intracellular chemical reaction.
Keywords: Cockayne Syndrome, Leigh Disease, Menkes Kinky Hair Syndrome, Neuronal Ceroid-Lipofuscinoses, Pantothenate Kinase-Associated Neurodegeneration, Smith-Lemli-Opitz Syndrome
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Article Information
Received : 7.06.2021
Accepted : 15.11.2021
First Published (online): 15.11.2021
Printed : 1.04.2022
Accepted : 15.11.2021
First Published (online): 15.11.2021
Printed : 1.04.2022
Corresponding Author :
Süleyman Korhan KARAMAN : Sağlık Bilimleri Üniversitesi Ulucanlar Göz Eğitim ve Araştırma Hastanesi [email protected]
Süleyman Korhan KARAMAN : Sağlık Bilimleri Üniversitesi Ulucanlar Göz Eğitim ve Araştırma Hastanesi [email protected]
Citation : Karaman SK. İkincil Optik Atrofi ile İlişkili Diğer Kalıtsal Sendromlar. Güncel Retina 2022; 6 (2): 113-117.