TITLE

Sistinozisli Bir Olguda Pigmenter Makülopati

AUTHOR(S)
Demir, Selim; Beden, Ümit; Önmez, Baris; Yeter, Volkan; Erkan, Dilek
PUB. DATE
June 2009
SOURCE
Retina-Vitreus/Journal of Retina-Vitreous;Jun2009, Vol. 17 Issue 2, p145
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
C ystinosis is a rare autosomal recessive lysosomal storage disorder. It is characterized by the intracellular accumulation of cystine. The gene for nephropathic cystinosis has been mapped to chromosome 17p13. Corneal and conjunctival crystals are the most common anterior segment findings while hypopigmentation of retina pigment epithelium in the periphery and macular pigmentary changes are the most common fundus findings in the disease. Corneal crystals cause intense photophobia and blepharospasm. Two forms of the cystinosis were defined: nephropathic (infantile-juvenile) and non- nephropathic. In this study, we present the macular pigmentary changes in a patient with infantile nefrophatic cystinosis.
ACCESSION #
42988872

 

Related Articles

  • Citations and Clinicians' Notes: Treatment: Comorbid Conditions.  // Current Medical Literature: Lysosomal Storage Disease;2003, Vol. 3 Issue 1, p24 

    Presents citations and clinicians' views on various issues concerning the treatment of lysosomal storage diseases. Examination of the course of cystinosis in adult patients; Influence of progressive renal dysfunction in chronic heart failure.

  • Intravenous delivery of cysteamine for the treatment of cystinosis: association with hepatotoxicity. Bendel-Stenzel, Michael R.; Steinke, Julia; Dohil, Ranjan; Youngki Kim // Pediatric Nephrology;Feb2008, Vol. 23 Issue 2, p311 

    Nephropathic cystinosis is a lysosomal storage disorder, which, if untreated, results in renal failure by age 10 years. Oral cysteamine has been shown to preserve renal function in these patients. In this study, a 2-year-old girl with nephropathic cystinosis and severe gastrointestinal...

  • Caspase-4 may play a role in loss of proximal tubules and renal injury in nephropathic cystinosis. Sansanwal, Poonam; Kambham, Neeraja; Sarwal, Minnie M. // Pediatric Nephrology;Jan2010, Vol. 25 Issue 1, p105 

    Nephropathic cystinosis is characterized clinically by generalized proximal renal tubular dysfunction, renal Fanconi Syndrome and progressive renal failure. Glomerular–proximal tubule disconnection has been noted in renal biopsies from patients with nephropathic cystinosis. In vitro...

  • Divergent Roles of Autophagy in Virus Infection. Chiramel, Abhilash I.; Brady, Nathan R.; Bartenschlager, Ralf // Cells (2073-4409);Mar2013, Vol. 2 Issue 1, p83 

    Viruses have played an important role in human evolution and have evolved diverse strategies to co-exist with their hosts. As obligate intracellular pathogens, viruses exploit and manipulate different host cell processes, including cellular trafficking, metabolism and immunity-related functions,...

  • The two-pore channel TPCN2 mediates NAADP-dependent Ca2+-release from lysosomal stores. Xiangang Zong; Schieder, Michael; Cuny, Hartmut; Fenske, Stefanie; Gruner, Christian; Rötzer, Katrin; Griesbeck, Oliver; Harz, Hartmann; Biel, Martin; Wahl-Schott, Christian // Pflugers Archiv European Journal of Physiology;Sep2009, Vol. 458 Issue 5, p891 

    Second messenger-induced Ca2+-release from intracellular stores plays a key role in a multitude of physiological processes. In addition to 1,4,5-inositol trisphosphate (IP3), Ca2+, and cyclic ADP ribose (cADPR) that trigger Ca2+-release from the endoplasmatic reticulum (ER), nicotinic acid...

  • H2O2-mediated modulation of cytosolic signaling and organelle function in rat hippocampus. Gerich, Florian J.; Funke, Frank; Hildebrandt, Belinda; Faßhauer, Martin; Müller, Michael // Pflugers Archiv European Journal of Physiology;Sep2009, Vol. 458 Issue 5, p937 

    Reactive oxygen species (ROS) released from (dys-)functioning mitochondria contribute to normal and pathophysiological cellular signaling by modulating cytosolic redox state and redox-sensitive proteins. To identify putative redox targets involved in such signaling, we exposed hippocampal...

  • Effects of Lysosomal Membrane Protein Depletion on the Salmonella-Containing Vacuole. Roark, Everett A.; Haldar, Kasturi // PLoS ONE;2008, Vol. 3 Issue 10, p1 

    Salmonella is an intracellular bacterial pathogen that replicates within a membrane-bound vacuole in host cells. The major lysosomal membrane proteins 1 and 2 (LAMP-1 and LAMP-2) are recruited to the Salmonella-containing vacuole as well as Salmonella- associated filaments (Sifs) that emerge...

  • Cysteamine Suppresses Invasion, Metastasis and Prolongs Survival by Inhibiting Matrix Metalloproteinases in a Mouse Model of Human Pancreatic Cancer. Fujisawa, Toshio; Rubin, Benjamin; Suzuki, Akiko; Patel, Prabhudas S.; Gahl, William A.; Joshi, Bharat H.; Puri, Raj K. // PLoS ONE;Apr2012, Vol. 7 Issue 4, p1 

    Background: Cysteamine, an anti-oxidant aminothiol, is the treatment of choice for nephropathic cystinosis, a rare lysosomal storage disease. Cysteamine is a chemo-sensitization and radioprotection agent and its antitumor effects have been investigated in various tumor cell lines and chemical...

  • Cysteamine Suppresses Invasion, Metastasis and Prolongs Survival by Inhibiting Matrix Metalloproteinases in a Mouse Model of Human Pancreatic Cancer. Fujisawa, Toshio; Rubin, Benjamin; Suzuki, Akiko; Patel, Prabhudas S.; Gahl, William A.; Joshi, Bharat H.; Puri, Raj K. // PLoS ONE;Apr2012, Vol. 7 Issue 4, p1 

    Background: Cysteamine, an anti-oxidant aminothiol, is the treatment of choice for nephropathic cystinosis, a rare lysosomal storage disease. Cysteamine is a chemo-sensitization and radioprotection agent and its antitumor effects have been investigated in various tumor cell lines and chemical...

Share

Read the Article

Courtesy of VIRGINIA BEACH PUBLIC LIBRARY AND SYSTEM

Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics