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Mitochondrial Disorder: Kearns-Sayre Syndrome.
Authors: Tsang SH, Aycinena ARP, Sharma T Abstract Mitochondrial diseases are multisystem disorders: anemia, myopathy, lactic acidosis, CNS abnormality, endocrine abnormalities, renal disease, sensorineural deafness, and retinal involvement. The clinical abnormalities are heterogeneous, and they usually begin in childhood. Premature death occurs because of cardiac conduction defects. The onset is usually before 20 years of age. The fundus shows pigmentary retinopathy, with a salt-and-pepper appearance (Fig. 30.1), but vision remains good in most patients. Systemic involvement includes chronic progressive external o...
Source: Advances in Experimental Medicine and Biology - December 25, 2018 Category: Research Tags: Adv Exp Med Biol Source Type: research

New observations regarding the retinopathy of genetically confirmed kearns–sayre syndrome
Conclusion: Subretinal fibrosis and macular hole are novel retinal observations which expand clinical profile in Kearns–Sayre syndrome. Genetic testing for mtDNA deletions and heteroplasmy in blood, muscle biopsy, careful ocular and retinal examination including electroretinography, and imaging are indispensable tests for this condition.
Source: Retinal Cases and Brief Reports - October 1, 2018 Category: Opthalmology Tags: Case Report Source Type: research

CHECKPOINT INHIBITOR IMMUNE THERAPY: Systemic Indications and Ophthalmic Side Effects
Conclusion: Checkpoint inhibitors enhance the immune system by releasing inhibition on T cells, with risk of autoimmune-like side effects. Ophthalmologists should include immune-related adverse events in their differential when examining cancer patients with new ocular symptoms.
Source: RETINA - May 31, 2018 Category: Opthalmology Tags: Review Source Type: research

Pigmentary retinopathy, rod-cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNA(Lys) (m.8340G > A) gene variant.
CONCLUSION: We confirm the pathogenicity of the rare mitochondrial m.8340G>A variant the basis of single-fibre segregation studies and its association with an expanded clinical phenotype. Our case expands the phenotypic spectrum of diseases associated with mitochondrial tRNA point mutations, highlighting the importance of considering a mitochondrial diagnosis in similar cases presenting to the eye clinic and the importance of further genetic testing if standard mutational analysis does not yield a result. PMID: 28729369 [PubMed - as supplied by publisher]
Source: The British Journal of Ophthalmology - July 20, 2017 Category: Opthalmology Authors: Gill JS, Hardy SA, Blakely EL, Hopton S, Nemeth AH, Fratter C, Poulton J, Taylor RW, Downes SM Tags: Br J Ophthalmol Source Type: research

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