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1,731 Possible Causes for Mutations in the Cystinosis Gene, Subsarcolemmal Accumulation of Normal Mitochondria, Visual Acuity Decreased

  • Nephropathic Cystinosis

    OBJECTIVE: Identify CTNS gene mutations in nephropathic cystinosis Mexican patients.[ncbi.nlm.nih.gov] (CTNS) gene.[ncbi.nlm.nih.gov] Onofrio, 4, 00165, Rome, Italy. taranta@opbg.net Abstract Nephropathic cystinosis (NC) is an autosomal recessive disorder caused by mutations of the CTNS gene that encodes[ncbi.nlm.nih.gov]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Juvenile Cystinosis

    […] and intermyofibrillar accumulation of mitochondria in muscles ( mitochondria stain red).[amboss.com] visual acuity.[ijo.in] Genatlas disease for CTNS Gene cystinosis,infantile,nephropathic type Additional Disease Information for CTNS A novel gene encoding an integral membrane protein is mutated[genecards.org]

  • Retinitis Pigmentosa

    […] encoding an integral membrane protein is mutated in nephropathic cystinosis.[ojrd.com] Macular edema may cause additional central visual acuity decrease. Cystoid macular edema (CME) is one of the few treatable causes of visual loss in RP.[ncbi.nlm.nih.gov] Removal of the cataracts may lessen glare and improve visual acuity. Decreased Visual Acuity A portion of RP patients, will experience a loss of central vision.[lowvision.org]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Oculocerebrorenal Syndrome

    Ocular abnormalities include cataract, glaucoma, microphthalmos, and decreased visual acuity.[uniprot.org] Genetics It is associated with mutation in the gene OCRL.[wikidoc.org] Also, microphthalmia and enophthalmos and decreased visual acuity have been observed.[renaltube.com]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Primary Hyperoxaluria

    Type 1 hyperoxaluria ( 1-9/1000000, ORPHA93598) is induced by a liver peroxisomal deficiency secondary to alanine glyoxylate aminotransferase gene mutations [ 53 ].[ojrd.biomedcentral.com] Of these IEM, iron overload has a special place in adulthood since hereditary haemochromatosis linked to a mutation of the HFE 1 gene is one of the most frequent metabolic[ojrd.biomedcentral.com] mutation in females (X-linked) Substitutive recombinant enzyme therapy Cystinosis 3 forms: infantile, juvenile, ophthalmic (adulthood) Liver and muscle involvement Evolution[ojrd.biomedcentral.com]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Cystinosis

    Visual acuity ranges from near normal to NLP.[disorders.eyes.arizona.edu] Patients with less severe cystinosis gene mutations tend to have better kidney outcome.[cjasn.asnjournals.org] Advanced retinal disease in older, untreated patients is thought to contribute to decreased visual acuity and visual field deficits. [10] Others: Careful ophthalmologic examination[eyewiki.aao.org]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Diabetes Mellitus

    In the T2DM group, the correlations between the above parameters and best-corrected visual acuity (BCVA) were assessed.[ncbi.nlm.nih.gov] RESULTS: Enlarged FAZ, increased PERIM, reduced CCF, reduced parafoveal VD and decreased CD inside the disc were significantly more obvious in the NDR subjects than in the[ncbi.nlm.nih.gov]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Toxoplasmosis

    Parasite 2015, 22, 30 Short Note Infection fatale à Toxoplasma gondii chez le panda géant 大熊猫弓形虫致死性感染 1 ,2, Zedong Wang (王泽东) 2, Chengdong Wang (王承东) 3, Caiwu Li (李才武) 3, Feng Wei (魏峰) 1 and Quan Liu (刘全) 2 * 1 College of Life Science, Jilin Agricultural University, 2888 Xincheng Street, Changchun 130118, Jilin Province,[…][doi.org]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Danon Disease

    There was an increase in glycogen granules with subsarcolemmal accumulation.[circ.ahajournals.org] Examinations performed before and during treatment included visual acuity (VA), spectral-domain optical coherence tomography, and electroretinography.[ncbi.nlm.nih.gov] A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nature Genet. 18, 319–324 (1998). 21 Verheijen, F. W. et al.[doi.org]

  • Stroke

    The Rational Clinical Examination Clinician's Corner May 18, 2005 JAMA. 2005;293(19):2391-2402. doi:10.1001/jama.293.19.2391 Context Patients suspected of having a stroke or transient ischemic attack require accurate assessment for appropriate acute treatment and use of secondary preventive interventions. Objective[…][oadoi.org]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria