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Pan Afr Med J 2022 18;41:226. Epub 2022 Mar 18.

Ophthalmology Department "A", Ibn Sina University Hospital (Hôpital des Spécialités), Mohammed V University, Rabat, Morocco.

Kearns-Sayre syndrome is a rare mitochondrial disorder. It had a triad of features, including progressive external ophthalmoplegia, pigmentary retinopathy, and an alteration of cardiac conduction. The ocular manifestations include bilateral ptosis, progressive external ophthalmoplegia, and atypical pigmentary retinopathy. Read More

Front Genet 2022 31;13:906667. Epub 2022 May 31.

Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.

Mitochondrial DNA (mtDNA) maintenance disorders embrace a broad range of clinical syndromes distinguished by the evidence of mtDNA depletion and/or deletions in affected tissues. Among the nuclear genes associated with mtDNA maintenance disorders, mutations produce a homogeneous phenotype, with progressive external ophthalmoplegia (PEO), ptosis, limb weakness, cerebellar ataxia, and dysphagia. The encoded enzyme, ribonuclease H1, is involved in mtDNA replication, whose impairment leads to an increase in replication intermediates resulting from mtDNA replication slowdown. Read More

Case Rep Genet 2022 23;2022:4153357. Epub 2022 Apr 23.

Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Kowloon Bay, Hong Kong.

A curious triad of retinitis pigmentosa, external ophthalmoplegia, and complete heart block was presented by Sayre et al. in 1958. Since then, the disorder named Kearns-Sayre syndrome (KSS) has come to represent patients with mitochondrial DNA deletions presenting before adulthood, primarily with chronic progressive external ophthalmoplegia (CPEO) and pigmentary retinopathy. Read More

Neurosciences (Riyadh) 2022 Apr;27(2):111-115

From the Department of Neurology, Hospital of Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan Province, People's Republic of China.

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 presented with chronic progressive blepharoptosis (ptosis) and external ophthalmoplegia, diffuse depigmentation of the retinal pigment epithelium, and cerebellar ataxia, with a cerebrospinal fluid protein of 254 mg/dL, was reported. Genetic screening revealed a novel mutated gene in SLC25A4 in the patient as well as in his mother: NM_001151:c. Read More

Jpn J Ophthalmol 2022 May 19;66(3):314-319. Epub 2022 Apr 19.

Department of Ophthalmology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Higashi-ku, Hamamatsu City, Shizuoka, 431-3192, Japan.

Purpose: Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disease characterized by slowly progressive ptosis and limitations in ocular motility. Although exophthalmos is not considered to be a common feature of CPEO, this study focused on the incidence of exophthalmos in patients with CPEO.

Study Design: Retrospective observational case series METHODS: We reviewed the clinical charts of patients who received a diagnosis of CPEO sometime during the period between January 2010 and December 2018. Read More

Plast Reconstr Surg Glob Open 2022 Mar 22;10(3):e4225. Epub 2022 Mar 22.

Section of Plastic Surgery, King Faisal Specialist Hospital and Research Center (General Organization), Jeddah, Saudi Arabia.

Acquired eyelid ptosis in adults, with complete loss of levator palpebrae superiosis function, can be a challenging problem to diagnose and treat. A 48-year-old woman with chronic bilateral severe blepharoptosis of 10 years duration is presented, whose neurological investigations excluded myasthenia gravis. The patient was preliminarily diagnosed with chronic progressive external ophthalmoplegia. Read More

Front Neurol 2022 8;13:846110. Epub 2022 Mar 8.

Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, United States.

Mutations in nuclear-encoded genes that are involved in mitochondrial DNA replication and maintenance (e.g., ) have been associated with chronic progressive external ophthalmoplegia (CPEO) phenotype. Read More

Mol Genet Genomic Med 2022 05 15;10(5):e1921. Epub 2022 Mar 15.

Department of Neurology, Peking University First Hospital, Beijing, China.

Objectives: This study aimed to investigate the clinical and genetic spectrum in Chinese patients with multiple mtDNA deletions presenting with autosomal-inherited mitochondrial progressive external ophthalmoplegia (PEO).

Methods: Long-range polymerase chain reaction and massively parallel sequencing of the mitochondrial genome were performed to detect deletions in muscle mtDNA of 274 unrelated families. Then, targeted next generation sequencing was used to detect nuclear gene variations in patients with multiple mtDNA deletions. Read More

J Binocul Vis Ocul Motil 2022 Apr-Jun;72(2):105-110. Epub 2022 Mar 7.

Serviço de Oftalmologia, Centro Hospitalar Universitário de Lisboa Central, Lisboa, Portugal.

Horizontal gaze palsy and progressive scoliosis (HGPPS) is a rare autosomal recessive disorder caused by mutations in the gene. Clinical presentation consists of impairment of conjugate horizontal eye movements together with a progressive scoliosis beginning in childhood. We report dizygotic twins with HGPPS that had absence of conjugate horizontal eye movements combined with divergent strabismus and synergistic divergence. Read More

J Int Adv Otol 2022 Jan;18(1):71-73

Emmeline Centre, Cambridge University Hospitals, Cambridge, UK; Department of Clinical Neurosciences, University of Cambridge Addenbrooke's Health Campus, Cambridge, UK.

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome is a multisystem, progressive neurodegenerative condition, and the most common mitochondrial cytopathy. While not a primary characteristic, sensorineural hearing loss is a common additional symptom reported in up to 78% of cases. This article presents 2 cases of cochlear implantation in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome. Read More

Mol Genet Metab 2022 04 15;135(4):333-341. Epub 2022 Feb 15.

Dept. Internal Medicine, Radboud Center for Mitochondrial Medicine, Radboudumc Nijmegen, the Netherlands.

Some pathogenic variants in mtDNA and nuclear DNA, affecting mitochondrial function, are associated with hearing loss. Behavioral and electrophysiological auditory performance are obtained from 62 patients, clinically diagnosed with different mitochondrial diseases (MD) using tone/speech audiometry and Auditory Brainstem Responses (ABR). Audiological variables (hearing loss type, pure tone average (PTA), interaural asymmetry, speech perception and brainstem neural conductivity) were analyzed and related to Newcastle Mitochondrial Disease Scale for Adults (NMDAS). Read More

Cureus 2021 Dec 23;13(12):e20641. Epub 2021 Dec 23.

Neurology, Neurology & Neurophysiology Center, Vienna, AUT.

Chronic progressive external ophthalmoplegia (CPEO) manifests phenotypically as ptosis with ophthalmoplegia or CPEO-plus, with the affection of muscles or organs other than the extra-ocular eye muscles. Herein, a case of CPEO-plus caused by a single mitochondrial DNA (mtDNA) deletion is represented, along with several previously unreported phenotypic features. The patient is a 76-year-old Caucasian female who had experienced slowly progressive bilateral ptosis since the age of 15, followed by gradual ophthalmoparesis without double vision. Read More

BMC Ophthalmol 2022 Jan 24;22(1):35. Epub 2022 Jan 24.

Department of Ophthalmology, the First Affiliated Hospital of Soochow University, 188 Shizi Sreet, Suzhou, 215006, PR China.

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. Read More

Neurol Sci 2022 Mar 14;43(3):2081-2084. Epub 2022 Jan 14.

Neuroradiology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Kearns-Sayre syndrome (KSS) is a rare mitochondrial disease associated to a widespread cerebral leukodystrophy. MRI shows a typical centripetal pattern where U-fibers are mainly affected with a relative spare of periventricular white matter. Recently, different patterns of spinal cord involvement have been described in KSS. Read More

Clin Optom (Auckl) 2021 24;13:335-339. Epub 2021 Dec 24.

Ophthalmology Department, Hippokration General Hospital, Athens, Greece.

Purpose: To present a case of chronic progressive external ophthalmoplegia (CPEO) diagnosis in the setting of a busy glaucoma clinic.

Materials And Methods: Case report.

Results: A 70-year-old-female presented to our glaucoma clinic concerned on her glaucoma status. Read More

J Child Neurol 2022 03 5;37(4):246-255. Epub 2022 Jan 5.

Department of Pediatrics, 29590Armed Forces Medical College, Pune, India.

Background: pathogenic variants are the commonest single-gene cause of inherited mitochondrial disease. However, the data on clinicogenetic associations in -related disorders are sparse. This study maps the clinicogenetic spectrum of -related disorders in the pediatric population. Read More

Neurol India 2021 Nov-Dec;69(6):1885

Klinik Landstrasse, Messerli Institute, Vienna, Austria.

Pan Afr Med J 2021 15;40:154. Epub 2021 Nov 15.

Cardiovascular Diseases B Department, Ibn Sina Medical Hospital, Mohamed V University, Rabat, Morocco.

Kearns Sayre syndrome is a rare mitochondrial abnormality first described in 1958, characterized by a triad associating progressive external ophthalmoplegia, ptosis, and pigmentary retinopathy with progressive alteration of cardiac conduction, which determines the vital prognosis of this entity. Here we report the case of a 13-year-old child of consanguineous parents who consults for recurrent syncope. The clinical exam found bilateral ptosis with complete atrioventricular block on electrocardiogram. Read More

Genes (Basel) 2021 11 29;12(12). Epub 2021 Nov 29.

Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.

The aim of this study was to describe the ocular phenotype in a case with Kearns-Sayre syndrome (KSS) spectrum and to determine if corneal endothelial cell dysfunction could be attributed to other known distinct genetic causes. Herein, genomic DNA was extracted from blood and exome sequencing was performed. Non-coding gene regions implicated in corneal endothelial dystrophies were screened by Sanger sequencing. Read More

Mol Genet Metab 2021 12 14;134(4):301-308. Epub 2021 Nov 14.

Mitochondrial Medicine Center, Neurosciences Institute, 9500 Euclid Avenue Cleveland, OH 44195, United States of America. Electronic address:

There is a limited understanding of system-level clinical outcomes and interventions associated with single large-scale mitochondrial DNA deletion syndromes (SLSMDS). Additionally, no research exists that describes patient reported outcomes (PROs) of children with SLSMDS. A global and observational registry was established to understand the multi-systemic course of SLSMDS and track clinical outcomes. Read More

Am J Ophthalmol 2022 04 15;236:320. Epub 2021 Nov 15.

Tehran, Iran.

Am J Ophthalmol 2022 04 15;236:319. Epub 2021 Nov 15.

Tunis, Tunisia.

J Neuroophthalmol 2021 Dec;41(4):e806-e814

Roski Eye Institute (KKG, JL, BYX, VRP), University of Southern California, Los Angeles, California; Department of Ophthalmology (JL), University of California San Francisco, San Francisco, California; and Gavin Herbert Eye Institute (VRP), University of California, Irvine, Irvine, California.

Background: Many potential surgical options exist to address large-angle deviations and head turns that result from various forms of paralytic strabismus. Muscle transposition surgeries serve as suitable alternatives to simple resection-recessions. Here, we report outcomes of augmented Hummelsheim and X-type transpositions for the correction of large-angle strabismus and provide insights for surgical planning. Read More

Int J Mol Sci 2021 Oct 14;22(20). Epub 2021 Oct 14.

Department of Proteomics a Signal Transduction, Max Planck Institute of Biochemistry, 82352 Martinsried, Germany.

Mitochondrial DNA deletions affect energy metabolism at tissue-specific and cell-specific threshold levels, but the pathophysiological mechanisms determining cell fate remain poorly understood. Chronic progressive external ophthalmoplegia (CPEO) is caused by mtDNA deletions and characterized by a mosaic distribution of muscle fibers with defective cytochrome oxidase (COX) activity, interspersed among fibers with retained functional respiratory chain. We used diagnostic histochemistry to distinguish COX-negative from COX-positive fibers in nine muscle biopsies from CPEO patients and performed laser capture microdissection (LCM) coupled to genome-wide gene expression analysis. Read More

Arq Neuropsiquiatr 2021 12;79(12):1153-1154

Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Neurologia, Campinas SP, Brazil.

A A Pract 2021 09 15;15(9):e01522. Epub 2021 Sep 15.

Klinik Landstrasse, Messerli Institute, Vienna, Austria,

Neurol India 2021 Jul-Aug;69(4):1085-1086

Department of Psychiatry, Government Medical College and Hospital, Sector 32, Chandigarh, India.

Neuromuscul Disord 2021 09 4;31(9):859-864. Epub 2021 Jul 4.

School for Mental Health and Neuroscience (MHeNS), Maastricht University, Maastricht, the Netherlands; Department of Toxicogenomics, Clinical Genomics Unit, Maastricht University, Maastricht, the Netherlands; School for Oncology and Developmental Biology (GROW), Maastricht University, Maastricht, the Netherlands. Electronic address:

Whole exome sequencing (WES), analyzed with GENESIS and WeGET, revealed a homozygous deletion in the C1QBP gene in a patient with progressive external ophthalmoplegia (PEO) and multiple mtDNA deletions. The gene encodes the mitochondria-located complementary 1 Q subcomponent-binding protein, involved in mitochondrial homeostasis. Biallelic mutations in C1QBP cause mitochondrial cardiomyopathy and/or PEO with variable age of onset. Read More

J Fr Ophtalmol 2021 Dec 5;44(10):1633-1635. Epub 2021 Aug 5.

Universidad de Málaga, Andalucía Tech, Facultad de Medicina, Campus de Teatinos s/n, 29071 Málaga, Spain; Ophthalmology department, Hospital Regional Universitario de Málaga, Plaza del Hospital Civil s/n, 29009 Málaga, Spain.

Am J Ophthalmol 2022 02 30;234:99-107. Epub 2021 Jul 30.

Skull Base Research Center, Eye Research Center, The Five Senses Institute, Rassoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.

Purpose: To evaluate the long-term outcomes of the palpebral fissure transfer (PFT) technique without lower eyelid spacer in patients with chronic progressive external ophthalmoplegia (CPEO).

Design: Retrospective interventional case series.

Methods: Consecutive patients with CPEO with PFT surgery (2006-2017) and a minimum follow-up of 24 months were included. Read More