Objectives Hearing loss is a clinical symptom, frequently mentioned in the context of
mitochondrial disease. With no cure available for mitochondrial disease, supportive …

Visual disturbance or visual failure due to toxicity of an ingested substance or a severe
nutritional deficiency can present significant challenges for diagnosis and management, for …

With diverse etiologies and clinical features, the management of pediatric auditory
neuropathy spectrum disorder (ANSD) is often challenging, and the outcomes of cochlear …

Dominant optic atrophy (DOA) is one of the most prevalent forms of hereditary optic
neuropathies and is mainly caused by heterozygous variants in OPA1, encoding a …

Dominant optic atrophy (DOA) is an inherited disease that leads to the loss of retinal
ganglion cells (RGCs), the projection neurons that relay visual information from the retina to …

Cochlear implantation (CI) for deafblindness may have more impact than for non-syndromic
hearing loss. Deafblind patients have a double handicap in a society that is more and more …

ABSTRACT Background Neurofibromatosis type 1 (NF1) is a multisystem disorder that
primarily affects the skin and peripheral nervous system and is caused by chromosomal …

Abstract The retinitis pigmentosa 2 (RP2) gene is one of the causative genes for X‐linked
inherited retinal disorder. We characterized the clinical/genetic features of four patients with …

Simple Summary Mitochondria are organelles within our cells that are best known for their
role in energy production. They are also able to fuse, divide, and move within the cell …

Hereditary optic neuropathy (HON) is a group of genetically heterogeneous diseases that
cause optic nerve atrophy and lead to substantial visual impairment. HON may present with …