Combined vision and hearing loss, also known as dual sensory impairment, can occur in
several genetic conditions, including ciliopathies such as Usher and Bardet-Biedl syndrome …

Purpose To report the retinal phenotype and the associated genetic and systemic findings in
patients with mitochondrial disease. Design Retrospective case series. Participants Twenty …

Mitochondria are highly specialised organelles required for key cellular processes including
ATP production through cellular respiration and controlling cell death via apoptosis. Unlike …

Objectives: Review the etiology of Kearns-Sayre syndrome. Describe the presentation of
Kearns-Sayre syndrome. Summarize the treatment options for Kearns-Sayre syndrome …

Purpose: Kearns-Sayre syndrome (KSS) is a mitochondrial DNA (mtDNA) deletion
syndrome that is characterized by the triad of onset commonly before age twenty …

Kearns-Sayre Syndrome (KSS) is a subtype of chronic progressive external
ophthalmoplegia (CPEO). In this case, A 21-year-old man diagnosed with KSS, and …

Mitokondriler, elektron transport zinciri ve oksidatif fosforilasyon sistemi vasıtasıyla hücrenin
enerji ihtiyacını karşılayan organellerdir. Fonksiyonları nükleer ve mitokondriyal DNA olmak …

Autopsy is often the only way of obtaining material for histological study from conditions such
as age-related macular degeneration or various retinopathies. It is also a valuable source …