scholarly journals Analysis of retinal function using chromatic pupillography in retinitis pigmentosa and the relationship to electrically evoked phosphene thresholds

2016 ◽  
Vol 95 (4) ◽  
pp. e261-e269 ◽  
Author(s):  
Carina Kelbsch ◽  
Fumiatsu Maeda ◽  
Jolanta Lisowska ◽  
Lukasz Lisowski ◽  
Torsten Strasser ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Retinal Function ◽  
The Relationship

Normal Central Retinal Function and Structure Preserved in Retinitis Pigmentosa

2010 ◽  
Vol 51 (2) ◽  
pp. 1079 ◽  
Author(s):  
Samuel G. Jacobson ◽  
Alejandro J. Roman ◽  
Tomas S. Aleman ◽  
Alexander Sumaroka ◽  
Waldo Herrera ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Retinal Function

Retinal blood flow velocity measured by retinal function imaging in retinitis pigmentosa

2011 ◽  
Vol 249 (12) ◽  
pp. 1855-1858 ◽  
Author(s):  
Sven C. Beutelspacher ◽  
Nermin Serbecic ◽  
Hila Barash ◽  
Zvia Burgansky-Eliash ◽  
Amiram Grinvald ◽  
...  
Keyword(s):  
Blood Flow ◽  
Retinitis Pigmentosa ◽  
Flow Velocity ◽  
Blood Flow Velocity ◽  
Retinal Function ◽  
Retinal Blood Flow ◽  
Retinal Blood Flow Velocity

scholarly journals Long-term Retinal Function and Structure Rescue Using Capsid Mutant AAV8 Vector in the rd10 Mouse, a Model of Recessive Retinitis Pigmentosa

2011 ◽  
Vol 19 (2) ◽  
pp. 234-242 ◽  
Author(s):  
Ji-jing Pang ◽  
Xufeng Dai ◽  
Shannon E Boye ◽  
Ilaria Barone ◽  
Sanford L Boye ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Retinal Function

scholarly journals The Elovl4 Spinocerebellar Ataxia-34 Mutation 736T>G (p.W246G) Impairs Retinal Function in the Absence of Photoreceptor Degeneration

2020 ◽  
Vol 57 (11) ◽  
pp. 4735-4753 ◽  
Author(s):  
Martin-Paul Agbaga ◽  
Megan A. Stiles ◽  
Richard S. Brush ◽  
Michael T. Sullivan ◽  
Adeline Machalinski ◽  
...  
Keyword(s):  
Fatty Acids ◽  
Spinocerebellar Ataxia ◽  
Tissue Specificity ◽  
Saturated Fatty Acids ◽  
Retinal Function ◽  
Macular Dystrophy ◽  
Photoreceptor Degeneration ◽  
Skin Lipids ◽  
The Relationship ◽  
Long Chain

Abstract Elongation of very long chain fatty acids-4 (ELOVL4) is essential for synthesis of very long chain polyunsaturated and saturated fatty acids (VLC-PUFA and VLC-SFA, respectively) of chain length greater than 26 carbons. Mutations in the ELOVL4 gene cause several distinct neurodegenerative diseases including Stargardt-like macular dystrophy (STGD3), spinocerebellar ataxia 34 (SCA34), and a neuro-ichthyotic syndrome with severe seizures and spasticity, as well as erythrokeratitis variabilis (EKV), a skin disorder. However, the relationship between ELOVL4 mutations, its VLC-PUFA and VLC-SFA products, and specific neurological symptoms remains unclear. We generated a knock-in rat line (SCA34-KI) that expresses the 736T>G (p.W246G) form of ELOVL4 that causes human SCA34. Lipids were analyzed by gas chromatography and mass spectrometry. Retinal function was assessed using electroretinography. Retinal integrity was assessed by histology, optical coherence tomography, and immunolabeling. Analysis of retina and skin lipids showed that the W246G mutation selectively impaired synthesis of VLC-SFA, but not VLC-PUFA. Homozygous SCA34-KI rats showed reduced ERG a- and b-wave amplitudes by 90 days of age, particularly for scotopic responses. Anatomical analyses revealed no indication of neurodegeneration in heterozygote or homozygote SCA34-KI rats out to 6–7 months of age. These studies reveal a previously unrecognized role for VLC-SFA in regulating retinal function, particularly transmission from photoreceptors to the inner retina, in the absence of neurodegeneration. Furthermore, these findings suggest that the tissue specificity and symptoms associated with disease-causing ELOVL4 mutations likely arise from selective differences in the ability of the mutant ELOVL4 enzymes to support synthesis of VLC-PUFA and/or VLC-SFA.

Assessment of Central Retinal Function in Patients with Advanced Retinitis Pigmentosa

2007 ◽  
Vol 48 (3) ◽  
pp. 1312 ◽  
Author(s):  
Christina Gerth ◽  
Tom Wright ◽  
Elise He´on ◽  
Carol A. Westall
Keyword(s):  
Retinitis Pigmentosa ◽  
Retinal Function

scholarly journals Genetic Analysis for Two Italian Siblings with Usher Syndrome and Schizophrenia

2012 ◽  
Vol 2012 ◽  
pp. 1-6 ◽  
Author(s):  
Daniela Domanico ◽  
Serena Fragiotta ◽  
Paolo Trabucco ◽  
Marcella Nebbioso ◽  
Enzo Maria Vingolo
Keyword(s):  
Genetic Analysis ◽  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Genetic Factors ◽  
Psychiatric Symptoms ◽  
Genetic Disorders ◽  
Usher Syndrome ◽  
High Prevalence ◽  
Psychiatric Manifestations ◽  
The Relationship

Usher syndrome is a group of autosomal recessive genetic disorders characterized by deafness, retinitis pigmentosa, and sometimes vestibular areflexia. The relationship between Usher syndrome and mental disorders, most commonly a “schizophrenia-like” psychosis, is sometimes described in the literature. The etiology of psychiatric expression of Usher syndrome is still unclear. We reported a case of two natural siblings with congenital hypoacusis, retinitis pigmentosa, and psychiatric symptoms. Clinical features and genetic analysis were also reported. We analyzed possible causes to explain the high prevalence of psychiatric manifestations in Usher syndrome: genetic factors, brain damage, and “stress-related” hypothesis.

scholarly journals Improved Retinal Function in a Mouse Model of Dominant Retinitis Pigmentosa Following AAV-delivered Gene Therapy

2009 ◽  
Vol 17 (4) ◽  
pp. 593-599 ◽  
Author(s):  
Naomi Chadderton ◽  
Sophia Millington-Ward ◽  
Arpad Palfi ◽  
Mary O'Reilly ◽  
Gearóid Tuohy ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Mouse Model ◽  
Retinitis Pigmentosa ◽  
Retinal Function

scholarly journals Assessment of local retinal function in patients with retinitis pigmentosa using the multi-focal ERG technique

1998 ◽  
Vol 38 (1) ◽  
pp. 163-179 ◽  
Author(s):  
Donald C. Hood ◽  
Karen Holopigian ◽  
Vivienne Greenstein ◽  
William Seiple ◽  
Ju Li ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Retinal Function
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