[Peripapillary pachychoroid syndrome].

Peripapillary pachychoroid syndrome (PPS) is a recently described condition, classified within the pachychoroid disease spectrum characterized by focal or diffuse thickening of the choroid due to dilation of choroidal vessels in the Haller's layer (pachyvessels), thinning of the choriocapillaris and the Sattler's layer, and accompanied by increased choroidal permeability and damage to the retinal pigment epithelium. Unlike other pachychoroid diseases that involve changes in the central retina, PPS presents with choroidal thickening and intra- or subretinal fluid located nasally in the macular region, near the optic disc. This review aims to summarize and analyze current data on the clinical features, pathogenesis, and treatment options for PPS found in the literature.

[Brain magnetic resonance imaging features in Leber's hereditary optic neuropathy].

Leber's hereditary optic neuropathy (LHON) is the most common inherited mitochondrial disease, characterized by the development of bilateral partial optic nerve atrophy. Modern neuroimaging technologies enable the acquisition of high-quality images, allowing for the evaluation of all structural components of the orbits, including the optic nerve. Consequently, the relevance of performing magnetic resonance imaging (MRI) in patients with LHON has increased.

[Typical and atypical optic neuritis].

Optic neuritis (ON) is one of the most common neuro-ophthalmic causes of vision loss worldwide. Demyelinating ON can be idiopathic or be one of the symptoms of autoimmune demyelinating diseases of the central nervous system (CNS) such as multiple sclerosis (MS), neuromyelitis optica spectrum disorders (NMOSD), myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). Demographic, clinical and radiological signs of ON in these CNS diseases have differences.

[Rare pathogenic nucleotide variants of mitochondrial DNA associated with Leber's hereditary optic neuropathy].

Patients with Leber Hereditary Optic Neuropathy (LHON) in most cases have one of the three most common mutations: m.11778G>A in the gene, m.3460G>A in the gene, or m.

[Long-term changes in morphological and functional parameters of the optic nerve in patients with various genetic variants of hereditary optic neuropathies].

Unlabelled: Leber's hereditary optic neuropathy (LHON) and autosomal recessive optic neuropathy (ARON) are degenerative diseases of the optic nerve caused by mutations in nuclear or mitochondrial DNA (nDNA, mtDNA). The clinical picture of these diseases is similar, but there are some differences in how the visual functions change in patients with different molecular genetic variants of hereditary optic neuropathies (HON).

Purpose: This study evaluates the long-term changes in morphological and functional parameters in patients with different genetic variants of HON.