scholarly journals Early blindness due to retinopathy of infantile cystinosis

Eye ◽  
2000 ◽  
Vol 14 (5) ◽  
pp. 804-805
Author(s):  
B.Y.P. Chang ◽  
N.D.L. George
Keyword(s):  
Infantile Cystinosis ◽  
Early Blindness

Better Olfactory Performance and Larger Olfactory Bulbs in a Mouse Model of Congenital Blindness

2020 ◽  
Vol 45 (7) ◽  
pp. 523-531
Author(s):  
Sara Touj ◽  
Samie Cloutier ◽  
Amel Jemâa ◽  
Mathieu Piché ◽  
Gilles Bronchti ◽  
...  
Keyword(s):  
Performance Test ◽  
Brain Plasticity ◽  
Olfactory Threshold ◽  
Olfactory Bulbs ◽  
Threshold Test ◽  
Anatomical Plasticity ◽  
Sensory Modalities ◽  
Olfactory Processing ◽  
Granular Layers ◽  
Early Blindness

Abstract It is well established that early blindness results in enhancement of the remaining nonvisual sensory modalities accompanied by functional and anatomical brain plasticity. While auditory and tactile functions have been largely investigated, the results regarding olfactory functions remained less explored and less consistent. In the present study, we investigated olfactory function in blind mice using 3 tests: the buried food test, the olfactory threshold test, and the olfactory performance test. The results indicated better performance of blind mice in the buried food test and odor performance test while there was no difference in the olfactory threshold test. Using histological measurements, we also investigated if there was anatomical plasticity in the olfactory bulbs (OB), the most salient site for olfactory processing. The results indicated a larger volume of the OB driven by larger glomerular and granular layers in blind mice compared with sighted mice. Structural plasticity in the OB may underlie the enhanced olfactory performance in blind mice.

INFANTILE CYSTINOSIS

2009 ◽  
Vol 30 (4) ◽  
pp. 365-377 ◽  
Author(s):  
Poul Braendstrup
Keyword(s):  
Infantile Cystinosis

scholarly journals Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare CTNS mutation

2018 ◽  
Vol 6 (9) ◽  
pp. 1871-1876
Author(s):  
Kozina A. Anastasiya ◽  
Okuneva G. Elena ◽  
Baryshnikova V. Natalia ◽  
Krasnenko Yu. Anna ◽  
Tsukanov Yu. Kirill ◽  
...  
Keyword(s):  
Infantile Cystinosis ◽  
Russian Patient

scholarly journals Development and Validation of the Self-Acceptance Scale for Persons with Early Blindness: The SAS-EB

PLoS ONE ◽  
2014 ◽  
Vol 9 (9) ◽  
pp. e106848 ◽  
Author(s):  
Fabiane Frota da Rocha Morgado ◽  
Angela Nogueira Neves Betanho Campana ◽  
Maria da Consolação Gomes Cunha Fernandes Tavares
Keyword(s):  
The Self ◽  
Acceptance Scale ◽  
Self Acceptance ◽  
Development And Validation ◽  
Early Blindness

Early blindness results in abnormal corticocortical and thalamocortical connections

Neuroscience ◽  
2006 ◽  
Vol 142 (3) ◽  
pp. 843-858 ◽  
Author(s):  
S.J. Karlen ◽  
D.M. Kahn ◽  
L. Krubitzer
Keyword(s):  
Thalamocortical Connections ◽  
Early Blindness

ADOLESCENT CYSTINOSIS: COMPARISONS WITH INFANTILE AND ADULT FORMS

PEDIATRICS ◽  
1971 ◽  
Vol 47 (6) ◽  
pp. 979-988
Author(s):  
H. Goldman ◽  
C. R. Scriver ◽  
K. Aaron ◽  
E. Delvin ◽  
Z. Canlas
Keyword(s):  
Steady State ◽  
Gene Dosage ◽  
Intracellular Concentration ◽  
Gene Products ◽  
Clinical Prognosis ◽  
Cystine Content ◽  
Infantile Cystinosis ◽  
New Form

Two adolescent siblings with a new form of cystinosis are distinctive because of their present age (15 and 14 years), their mild nephropathy, and the absence of retinopathy and pigmentary changes. The intracellular concentration of free cystine in their fibroblasts and leukocytes is 3 to 6 µmoles/gm protein, which is lower than in fatal infantile cystinosis and slightly higher than in the benign adult trait. The cystine is localized predominantly in the "granular" fraction. Both parents of the adolescent cystinotic siblings have excessive cystine retention in fibroblasts and leukocytes in the range which is typical of infantile cystinotic heterozygotes but cystine storage is not directly proportional to gene dosage. Dithiothreitol reduces the cystine content of "adolescent" fibroblasts, as it does in "infantile" cells. The three cystinotic traits indicate that several mutant alleles, at one or more gene loci, affect one or more gene products which control the steady-state of cystine metabolism in the cell. Clinical prognosis is apparently influenced to some extent by the severity of cystine retention.

scholarly journals Cortical Plasticity and Olfactory Function in Early Blindness

2016 ◽  
Vol 10 ◽  
Author(s):  
Rodrigo Araneda ◽  
Laurent A. Renier ◽  
Philippe Rombaux ◽  
Isabel Cuevas ◽  
Anne G. De Volder
Keyword(s):  
Cortical Plasticity ◽  
Olfactory Function ◽  
Early Blindness

Renal transplantation for infantile cystinosis: Long-term follow-up

1992 ◽  
Vol 27 (3) ◽  
pp. 398
Author(s):  
S. Almond ◽  
P. Morel ◽  
A. Matas ◽  
M. Mauer ◽  
T. Nevins ◽  
...  
Keyword(s):  
Renal Transplantation ◽  
Long Term Follow Up ◽  
Infantile Cystinosis

Author response for "Structural brain plasticity induced by early blindness"

2020 ◽  
Author(s):  
Sara Touj ◽  
Daniel Gallino ◽  
M. Mallar Chakravarty ◽  
Gilles Bronchti ◽  
Mathieu Piché
Keyword(s):  
Brain Plasticity ◽  
Author Response ◽  
Early Blindness ◽  
Structural Brain
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