Macular findings in Spectral Domain Optical Coherence Tomography and OCT Angiography in a patient with Kearns–Sayre syndrome

Ortiz, Alvaro I.; Arias, Juan D.; Cárdenas, P.L.; Villamil, John F; Peralta, M.A. Alonso; Escaf, Luis; Ortiz, Jacobo

doi:10.1186/s40942-017-0077-8

Cited by 8 publications

(6 citation statements)

References 14 publications

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“…However, there was a marked reduction in deep retinal capillary density as compared with the normal population (62.9% ± 3.5%) in the parafovea [ 14 ]. Alvaro Ortiz et al also discovered a disorder of the deep capillary system in a patient with KSS, which was consistent with our findings; however, the patient in the previous study maintained a normal vascular pattern of choriocapillaries [ 15 ]. Thus, this is the first study of the discovery of choriocapillaris layer atrophy through OCTA.…”

Section: Discussionsupporting

confidence: 91%

Kearns–Sayre syndrome with a novel large-scale deletion: a case report

2022

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Background Kearns–Sayre syndrome (KSS) is a rare, multisystem mitochondrial encephalomyopathy. We report a case of KSS with a novel 7.6-kb deletion as assessed through a long-range polymerase chain reaction (PCR) study in the blood. In addition, optical coherence tomography angiography (OCTA) confirmed deep retinal capillary atrophy for the first time. Case presentation A 13-year-old patient presented with progressive vision loss and difficulty with eye opening and was diagnosed with progressive external ophthalmoplegia and retinitis pigmentosa (RP). The patient also experienced heart block, vestibular dysfunction, growth retardation and multiple demyelinating lesions. A long-range PCR study in the blood revealed a large-scale Chrm: 6341–13,993 deletion, which was first reported and broadened the genetic spectrum of this disease. The patient underwent complete ophthalmic examination, medical history review and gene detection, resulting in a confirmation of the diagnosis of KSS. The patient was given a pair of applicable glasses to wear and was followed up every 3 months. An implantable pacemaker was also installed based on the advice of the physician. Conclusions We reported a novel large-scale deletion in the mitochondrial DNA of KSS, and OCTA was used for the first time to confirm deep retinal capillary atrophy. Furthermore, because ophthalmic symptoms are often the primary manifestation of KSS, the relationship between ophthalmology and mitochondrial diseases should be emphasised.

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Section: Discussionsupporting

confidence: 91%

Kearns–Sayre syndrome with a novel large-scale deletion: a case report

2022

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“…Kearns-Sayre syndrome (KSS) presents that classic triad: pigmentary retinopathy, chronic progressive external ophthalmoplegia and heart block, beyond features like cerebellar ataxia. 57 Chronic Progressive External Ophthalmoplegia (CPEO) is a mitochondrial myopathy with slowly progressive, often symmetric blepharoptosis and limitation of ocular motility in all directions of gaze. 58 Bosbach et al 59 performed a study with 22 patients with CPEO or KSS included screening for mitochondrial DNA (mtDNA) point mutations (3243/8344) and mtDNA deletions.…”

Section: Discussionmentioning

confidence: 99%

Cognitive impairment in neuromuscular diseases: A systematic review

et al. 2018

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Neuromuscular diseases are multifactorial pathologies characterized by extensive muscle fiber damage that leads to the activation of satellite cells and to the exhaustion of their pool, with consequent impairment of neurobiological aspects, such as cognition and motor control. To review the knowledge and obtain a broad view of the cognitive impairment on Neuromuscular Diseases. Cognitive impairment in neuromuscular disease was explored; a literature search up to October 2017 was conducted, including experimental studies, case reports and reviews written in English. Keywords included Cognitive Impairment, Neuromuscular Diseases, Motor Neuron Diseases, Dystrophinopathies and Mitochondrial Disorders. Several cognitive evaluation scales, neuroimaging scans, genetic analysis and laboratory applications in neuromuscular diseases, especially when it comes to the Motor Neuron Diseases, Dystrophinopathies and Mitochondrial Disorders. In addition, organisms model using rats in the genetic analysis and laboratory applications to verify the cognitive and neuromuscular impacts. Several studies indicate that congenital molecular alterations in neuromuscular diseases promote cognitive dysfunctions. Understanding these mechanisms may in the future guide the proper management of the patient, evaluation, establishment of prognosis, choice of treatment and development of innovative interventions such as gene therapy.

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“…Interestingly, bilateral retinoschisis, a macular vitelliform-like lesion and subretinal fluid have all been reported [118][119][120]. OCT may reveal areas of outer retinal layer atrophy and ellipsoid zone disruption [121], while FAF reveals areas of speckled hypo-and hyperautofluorescence [122]. Full-field ERG shows evidence of generalised cone and rod-system dysfunction [19].…”

Section: Mitochondrial Disorders Kearns-sayre Syndromementioning

confidence: 99%

Inherited causes of combined vision and hearing loss: clinical features and molecular genetics

et al. 2022

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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, mitochondrial DNA disorders and systemic diseases, such as CHARGE, Stickler, Waardenburg, Alport and Alstrom syndrome. The retinal phenotype may point to the diagnosis of such disorders. Herein, we aim to provide a comprehensive review of the molecular genetics and clinical features of the most common non-chromosomal inherited disorders to cause dual sensory impairment.

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Macular findings in Spectral Domain Optical Coherence Tomography and OCT Angiography in a patient with Kearns–Sayre syndrome

Cited by 8 publications

References 14 publications

Kearns–Sayre syndrome with a novel large-scale deletion: a case report

Kearns–Sayre syndrome with a novel large-scale deletion: a case report

Cognitive impairment in neuromuscular diseases: A systematic review

Inherited causes of combined vision and hearing loss: clinical features and molecular genetics

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