Leber hereditary optic neuropathy: a clinical case of an autosomal recessive form associated with a DNAJC30 mutation

Abstract

Leber hereditary optic neuropathy is a hereditary disorder that occurs in 90%–95% of cases due to a mutation in mitochondrial DNA. Recent publications have described an autosomal recessive form of Leber hereditary optic neuropathy caused by biallelic mutations in the nuclear DNAJC30 gene. This autosomal recessive form presents a significant clinical and diagnostic challenge due to its rarity, the lack of clear phenotypic differences from the mitochondrial form, the difficulty of interpreting instrumental findings, and the long time required for diagnosis verification. Therefore, each described case is important for better understanding of the disease course, diagnosis, and potential therapeutic approaches, which necessitates the publication of this clinical observation. The article presents a clinical case of an autosomal recessive form of Leber hereditary optic neuropathy. Patient A., 14 years old, presented to an ophthalmologist with complaints of a sharp painless decrease in vision in both eyes. A comprehensive ophthalmological examination revealed structural changes in the optic discs and retina characteristic of Leber hereditary optic neuropathy, confirmed by ophthalmoscopy and optical coherence tomography. The key step was molecular genetic testing, which identified a homozygous mutation in the DNAJC30 gene, establishing the diagnosis of autosomal recessive Leber hereditary optic neuropathy. With regular long-term administration of antioxidant, metabolic (including idebenone), and neurotropic therapy, a significant subjective and objective improvement in visual acuity was observed, despite persistent pronounced structural changes. This clinical case demonstrates that thorough genetic testing, including analysis of the DNAJC30 gene, is necessary in patients with clinical manifestations of this disease, especially in the absence of typical mitochondrial mutations. The observation confirms that the autosomal recessive form of Leber hereditary optic neuropathy, despite severe baseline structural damage, may respond positively to comprehensive metabolic therapy, highlighting the importance of early initiation. However, given the single-case nature of this observation, the findings on treatment efficacy require further experience and confirmation in larger studies. This report expands the understanding of the clinical picture and potential therapeutic options for this rare form of the disease.