Animals deficient in C2Orf71, an autosomal recessive retinitis pigmentosa-associated locus, develop severe early-onset retinal degeneration

B. M. Kevany; N. Zhang; B. Jastrzebska; K. Palczewski

doi:10.1093/hmg/ddv025

Animals deficient in C2Orf71, an autosomal recessive retinitis pigmentosa-associated locus, develop severe early-onset retinal degeneration

Human Molecular Genetics ◽

10.1093/hmg/ddv025 ◽

2015 ◽

Vol 24 (9) ◽

pp. 2627-2640 ◽

Cited By ~ 12

Author(s):

B. M. Kevany ◽

N. Zhang ◽

B. Jastrzebska ◽

K. Palczewski

Keyword(s):

Retinitis Pigmentosa ◽

Retinal Degeneration ◽

Early Onset ◽

Autosomal Recessive

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Mutation of SPATA7 in a family with autosomal recessive early-onset retinitis pigmentosa

Journal of Molecular and Genetic Medicine ◽

10.4172/1747-0862.1000053 ◽

2012 ◽

Vol 06 (01) ◽

Cited By ~ 6

Author(s):

Chitra Kannabiran ◽

Lakshmi Palavalli ◽

Subhadra Jalali

Keyword(s):

Retinitis Pigmentosa ◽

Early Onset ◽

Autosomal Recessive

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Autosomal-Recessive Early-Onset Retinitis Pigmentosa Caused by a Mutation in PDE6G, the Gene Encoding the Gamma Subunit of Rod cGMP Phosphodiesterase

The American Journal of Human Genetics ◽

10.1016/j.ajhg.2010.06.016 ◽

2010 ◽

Vol 87 (2) ◽

pp. 258-264 ◽

Cited By ~ 34

Author(s):

Liron Dvir ◽

Gassoub Srour ◽

Rasmi Abu-Ras ◽

Benjamin Miller ◽

Stavit A. Shalev ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Early Onset ◽

Autosomal Recessive ◽

Gene Encoding ◽

Gamma Subunit ◽

Cgmp Phosphodiesterase

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Compound heterozygous RPE65 mutations associated with an early onset autosomal recessive retinitis pigmentosa

The Journal of Gene Medicine ◽

10.1002/jgm.3211 ◽

2020 ◽

Vol 22 (10) ◽

Cited By ~ 1

Author(s):

Marta Owczarek‐Lipska ◽

Fei Song ◽

Vesna Jakšić ◽

John Neidhardt

Keyword(s):

Retinitis Pigmentosa ◽

Early Onset ◽

Autosomal Recessive ◽

Compound Heterozygous

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Characterization of an Early-Onset, Autosomal Recessive, Progressive Retinal Degeneration in Bengal Cats

Investigative Opthalmology & Visual Science ◽

10.1167/iovs.15-16585 ◽

2015 ◽

Vol 56 (9) ◽

pp. 5299 ◽

Cited By ~ 10

Author(s):

Ron Ofri ◽

Christopher M. Reilly ◽

David J. Maggs ◽

Paul G. Fitzgerald ◽

Yael Shilo-Benjamini ◽

...

Keyword(s):

Retinal Degeneration ◽

Early Onset ◽

Autosomal Recessive

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Mutations inCRB1are a Relatively Common Cause of Autosomal Recessive Early-Onset Retinal Degeneration in the Israeli and Palestinian Populations

Investigative Opthalmology & Visual Science ◽

10.1167/iovs.12-11419 ◽

2013 ◽

Vol 54 (3) ◽

pp. 2068 ◽

Cited By ~ 14

Author(s):

Avigail Beryozkin ◽

Lina Zelinger ◽

Dikla Bandah-Rozenfeld ◽

Anat Harel ◽

Tim A. Strom ◽

...

Keyword(s):

Retinal Degeneration ◽

Early Onset ◽

Autosomal Recessive ◽

Common Cause

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Amplitude and Latency of Electroretinographical Peaks as a tool to Predict the Extent of Retinal Degeneration in Retinitis Pigmentosa Patients

http://www.fortunejournals.com/journal-of-ophthalmology-and-research-home-fjor.php ◽

10.26502/fjor.2644-00240024 ◽

2020 ◽

Vol 03 (03) ◽

Author(s):

Maryam Naser ◽

Seyed Mohammad Masoud Shushtarian

Keyword(s):

Retinitis Pigmentosa ◽

Retinal Degeneration

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Faculty Opinions recommendation of EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1123361.580519 ◽

2008 ◽

Author(s):

Darryl Nishimura

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Recessive

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Clinical spectrum, genetic associations and management outcomes of Coats-like exudative retinal vasculopathy in autosomal recessive retinitis pigmentosa

Ophthalmic Genetics ◽

10.1080/13816810.2020.1867754 ◽

2021 ◽

pp. 1-8

Author(s):

Moustafa Magliyah ◽

Abdulaziz A. Alshamrani ◽

Patrik Schatz ◽

Ibrahim Taskintuna ◽

Yahya Alzahrani ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Recessive ◽

Clinical Spectrum ◽

Genetic Associations

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Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset Parkinsonism

Science ◽

10.1126/science.1077209 ◽

2002 ◽

Vol 299 (5604) ◽

pp. 256-259 ◽

Cited By ~ 1716

Author(s):

V. Bonifati

Keyword(s):

Early Onset ◽

Autosomal Recessive

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Short-term high-fat feeding exacerbates degeneration in retinitis pigmentosa by promoting retinal oxidative stress and inflammation

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.2100566118 ◽

2021 ◽

Vol 118 (43) ◽

pp. e2100566118

Author(s):

Oksana Kutsyr ◽

Agustina Noailles ◽

Natalia Martínez-Gil ◽

Lucía Maestre-Carballa ◽

Manuel Martinez-Garcia ◽

...

Keyword(s):

Oxidative Stress ◽

Retinitis Pigmentosa ◽

Retinal Degeneration ◽

Gut Microbiome ◽

Cell Activation ◽

High Fat ◽

Short Term ◽

Oxidative Markers ◽

Degenerative Disorders ◽

Inflammatory State

A high-fat diet (HFD) can induce hyperglycemia and metabolic syndromes that, in turn, can trigger visual impairment. To evaluate the acute effects of HFD feeding on retinal degeneration, we assessed retinal function and morphology, inflammatory state, oxidative stress, and gut microbiome in dystrophic retinal degeneration 10 (rd10) mice, a model of retinitis pigmentosa, fed an HFD for 2 to 3 wk. Short-term HFD feeding impaired retinal responsiveness and visual acuity and enhanced photoreceptor degeneration, microglial cell activation, and Müller cell gliosis. HFD consumption also triggered the expression of inflammatory and oxidative markers in rd10 retinas. Finally, an HFD caused gut microbiome dysbiosis, increasing the abundance of potentially proinflammatory bacteria. Thus, HFD feeding drives the pathological processes of retinal degeneration by promoting oxidative stress and activating inflammatory-related pathways. Our findings suggest that consumption of an HFD could accelerate the progression of the disease in patients with retinal degenerative disorders.

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