Retinitis pigmentosa
Retinitis pigmentosa in pantothenate kinase-associated neurodegeneration
... A 16-year-old boy presented to our hospital with 4-year- history of generalized dystonia (predominantly cranio- cervical and upper limbs) (Figure 1) and visual loss. Brain MRI revealed globus pallidus hypointensity with ...
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Distilling a Visual Network of Retinitis Pigmentosa Gene-Protein Interactions to Uncover New Disease Candidates.
... causing retinitis pigmentosa and their known interactors (the core network was built around the 110 RP/LCA genes reported so far); ii) the generation of a tailored subgraph (which allows a very specialized ...
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Reshaping the Cone-Mosaic in a Rat Model of Retinitis Pigmentosa: Modulatory Role of ZO-1 Expression in DL-Alpha-Aminoadipic Acid Reshaping.
... Fig 4. AAA disrupts cone rings by affecting ZO-1 expression between Müller cells and cones. Confocal micrographs taken from whole-mounts of saline-treated P50 normal (A-D), saline-treated P50 RP (E-H), and AAA-treated ...
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Case Reports: The Use of Sector Fresnel Prism for Increased Peripheral Visual Field Awareness for Patients with End-Stage Retinitis Pigmentosa and Glaucoma
... advanced retinitis pigmentosa presented initially to the Low Vision Clinic at the Lighthouse Guild International with complaints of blurry vision and diiculty seeing at ...
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Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.
... This study aimed to identify the genetics underlying dominant forms of inherited retinal dys- trophies using whole exome sequencing (WES) in six families extensively screened for known mutations or genes. Thirty-eight ...
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Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases.
... recessive retinitis pigmentosa (arRP) with variable phenotypes (enhanced S-cone sensitivity syndrome -ESCS- [10, 11], Goldmann-Favre syndrome -GFS- [12], and clumped pigmentary retinal degeneration -CPRD-) ...
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Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.
... Results: Whole exome sequencing of 30 arRP/spRP patients identified disease-causing gene mutations of CNGA1 (four patients), EYS (three patients) and SAG (one patient) in eight patients [r] ...
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Arq. Bras. Oftalmol. vol.73 número5
... Bone marrow has been proposed as a potential source of stem cells for regene- rative medicine. In the eye, degeneration of neural cells in the retina is a hallmark of such widespread ocular diseases as age-related ...
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Rev. bras.oftalmol. vol.72 número1 en a06v72n1
... 5. Berson EL, Rosner B, Simonoff E. Risk factors for genetic typing and detection in retinitis pigmentosa. Am J Ophthalmol. 1980;89(6):763-75. 6. Unonius N, Farah ME, Sallum JM. Classificação diagnóstica ...
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SESSIONS OF THE ACADEMIA BRASILEIRA DE CIÊNCIAS
... Instituto de Biofísica Carlos Chagas Filho, Universidade Federal do Rio de Janeiro, 21941-590 Rio de Janeiro, RJ, Brazil.. Retinitis pigmentosa (RP) is a degenerative retinal disease, th[r] ...
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Braz. J. Pharm. Sci. vol.46 número3
... Recently, MacDonald et al. (2007) demonstrated a new therapeutic approach for the treatment of retinal di- seases in humans (phase I clinical studies). This approach involves a non-biodegradable intraocular implant ...
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WITHDRAWAL OF MAINTENANCE THERAPY FOR CYTOMEGALOVIRUS RETINITIS IN AIDS PATIENTS EXHIBITING IMMUNOLOGICAL RESPONSE TO HAART
... gondii retinitis or cataract; patients with previous CMV retinal infection at perimacular or peripapillary sites due to the risk of rapid visual loss; patients requiring oncological chemotherapy and/or radiation ...
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Clinical features and outcomes of AIDS-related cytomegalovirus retinitis in the era of highly active antiretroviral therapy
... From January 2005 to December 2007, active untreated CMV retinitis was diagnosed in 30 (4.34%) of the 691 con- secutive patients examined in Uveitis and AIDS Service of the Federal University of São Paulo - ...
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Late emergence of A594V and L595W mutations related to ganciclovir resistance in a patient with HCMV retinitis and long-term HIV progression
... Active HCMV infection in patients living with HIV shows generally stable initial viral loads, and its treatment with specific anti-HCMV drugs (mainly GCV), in associa- tion with strong adherence to ART, generally leads to ...
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EVALUATION OF GLYCOPROTEIN B GENOTYPES AND LOAD OF CMV INFECTING BLOOD LEUKOCYTES ON PROGNOSIS OF AIDS PATIENTS
... cytomegalovirus glycoprotein B genotypes in blood of AIDS patients: lack of association with either the viral DNA load in leukocytes or presence of retinitis. CMV DNA levels [r] ...
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Treatment of cytomegalovirus retinitis with an intraocular sustained-release ganciclovir implant
... (CMV) retinitis, a late stage AIDS manifestation which develops in patients with severe im- munodeficiency ...CMV retinitis was a very rare disease occurring usually after chemotherapy as a consequence of ...
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Retinal Thickening and Photoreceptor Loss in HIV Eyes without Retinitis.
... Visual function abnormalities are common in human immunodeficiency virus (HIV) infected patients without retinitis even after improvement in immune status with anti-retroviral ther- apy.[1,2] These abnormalities ...
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Arq. Bras. Oftalmol. vol.73 número3
... Retinitis and panuveitis is a rare and sight-threatening condition, being in most cases a diagnostic and therapeutic challenge. Empiric treatment is often initiated, due to the severity of the disease, based only ...
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Urticária pigmentosa em adulto com apresentação clínica exuberante.
... Resumo: A mastocitose é afecção rara e heterogênea, caracterizada por aumento da densida- de dos mastócitos na pele e em outros órgãos, para a qual não há tratamento específico. Descreve-se um caso de urticária ...
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