Atypical Leber Hereditary Optic Neuropathy (LHON) Associated with a Novel MT-CYB:m.15309T>C(Ile188Thr) Variant.

The study presents a detailed examination and follow-up of a Slovenian patient with an Leber Hereditary Optic Neuropathy (LHON)-like phenotype and bilateral optic neuropathy in whom genetic analysis identified a novel variant :m.15309T>C (Ile188Thr). We provide detailed analysis of the clinical examinations of a male patient with bilateral optic neuropathy from the acute stage to 8 years of follow-up.

Spectrum and frequencies of extraocular features reported in CEP290-associated ciliopathy - A systematic review.

Pathogenic variants in the CEP290 gene may result in a broad spectrum of diseases, ranging from lethal neonatal syndromes to isolated retinopathy. A detailed review of the clinical spectrum with the incidence of affected extraocular systems has not yet been published. A review of published papers was carried out to provide a comprehensive report on systemic signs and symptoms associated with CEP290 ciliopathies and to explore the genotype-phenotype correlation.

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion Probes to sequence 105 maculopathy-associated genes in 1352 patients diagnosed with iMDs. Within this cohort, 39.

Face Recognition Characteristics in Patients with Age-Related Macular Degeneration Determined Using a Virtual Reality Headset with Eye Tracking.

Background And Objectives: Face recognition is one of the most serious disabilities of patients with age-related macular degeneration (AMD). Our purpose was to study face recognition using a novel method incorporating virtual reality (VR) and eye tracking.

Materials And Methods: Eighteen patients with AMD (seven male; median age 83 years; 89% with bilateral advanced AMD) and nineteen healthy controls (five male; median age 68 years) underwent the face recognition test IC FACES (Synthesius, Ljubljna, Slovenia) on a VR headset with built-in eye tracking sensors.

Leber Hereditary Optic Neuropathy (LHON) in Patients with Presumed Childhood Monocular Amblyopia.

Background: Most Leber hereditary optic neuropathy (LHON) cases are bilateral and sequential; however, there are rare unilateral examples, or those in which the delay of onset of vision loss between one and the other eye is longer. In the case of presumed childhood amblyopia in one eye, vision loss in the good eye may be the only symptom of bilateral disease, which was unnoticed in the previously amblyopic eye, or a preexisting episode of LHON in the "amblyopic" eye. The clinical decision in such cases may be difficult and suggestive of other forms of atypical optic neuropathy until confirmed by genetic testing.