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Literature DB >> 25215869

Early structural anomalies observed by high-resolution imaging in two related cases of autosomal-dominant retinitis pigmentosa.

Sung Pyo Park¹, Winston Lee, Eun Jin Bae, Vivianne Greenstein, Bum Ho Sin, Stanley Chang, Stephen H Tsang.

Abstract

The authors report the use of adaptive-optics scanning laser ophthalmoscopy (AO-SLO) to investigate RHO, D190N autosomal-dominant retinitis pigmentosa in two siblings (11 and 16 years old, respectively). Each patient exhibited distinct hyperautofluorescence patterns in which the outer borders corresponded to inner segment ellipsoid band disruption. Areas within the hyperautofluorescence patterns exhibited normal photoreceptor outer segments and retinal pigment epithelium. However, AO-SLO imaging revealed noticeable spacing irregularities in the cone mosaic. AO-SLO allows researchers to characterize retinal structural abnormalities with precision so that early structural changes in retinitis pigmentosa can be identified and reconciled with genetic findings.

Entities: Chemical Disease Gene Mutation Species

Mesh：

Year: 2014 PMID： 25215869 PMCID： PMC4377129 DOI： 10.3928/23258160-20140908-01

Source DB: PubMed Journal: Ophthalmic Surg Lasers Imaging Retina ISSN： 2325-8160 Impact factor: 1.300

29 in total

1. Crystal structure of rhodopsin: A G protein-coupled receptor.

Authors: K Palczewski; T Kumasaka; T Hori; C A Behnke; H Motoshima; B A Fox; I Le Trong; D C Teller; T Okada; R E Stenkamp; M Yamamoto; M Miyano
Journal: Science Date: 2000-08-04 Impact factor: 47.728

2. The inner segment/outer segment border seen on optical coherence tomography is less intense in patients with diminished cone function.

Authors: Donald C Hood; Xian Zhang; Rithambara Ramachandran; Christine L Talamini; Ali Raza; Jonathan P Greenberg; Jerome Sherman; Stephen H Tsang; David G Birch
Journal: Invest Ophthalmol Vis Sci Date: 2011-12-28 Impact factor: 4.799

3. Changes of fundus autofluorescence, photoreceptor inner and outer segment junction line, and visual function in patients with retinitis pigmentosa.

Authors: Sayaka Aizawa; Yoshinori Mitamura; Akira Hagiwara; Takeshi Sugawara; Shuichi Yamamoto
Journal: Clin Exp Ophthalmol Date: 2010-04-29 Impact factor: 4.207

4. Structural and functional changes associated with normal and abnormal fundus autofluorescence in patients with retinitis pigmentosa.

Authors: Vivienne C Greenstein; Tobias Duncker; Karen Holopigian; Ronald E Carr; Jonathan P Greenberg; Stephen H Tsang; Donald C Hood
Journal: Retina Date: 2012-02 Impact factor: 4.256

5. Rearrangement of the cone mosaic in the retina of the rat model of retinitis pigmentosa.

Authors: Yerina Ji; Colleen L Zhu; Norberto M Grzywacz; Eun-Jin Lee
Journal: J Comp Neurol Date: 2012-03-01 Impact factor: 3.215

6. Progressive constriction of the hyperautofluorescent ring in retinitis pigmentosa.

Authors: Luiz H Lima; Tomas Burke; Vivienne C Greenstein; Chai Lin Chou; Wener Cella; Lawrence A Yannuzzi; Stephen H Tsang
Journal: Am J Ophthalmol Date: 2011-12-03 Impact factor: 5.258

7. Understanding rhodopsin mutations linked to the retinitis pigmentosa disease: a QM/MM and DFT/MRCI study.

Authors: Erix Wiliam Hernández-Rodríguez; Elsa Sánchez-García; Rachel Crespo-Otero; Ana Lilian Montero-Alejo; Luis Alberto Montero; Walter Thiel
Journal: J Phys Chem B Date: 2012-01-13 Impact factor: 2.991

8. P23H rhodopsin transgenic rat: correlation of retinal function with histopathology.

Authors: S Machida; M Kondo; J A Jamison; N W Khan; L T Kononen; T Sugawara; R A Bush; P A Sieving
Journal: Invest Ophthalmol Vis Sci Date: 2000-09 Impact factor: 4.799

9. Correlation of fundus autofluorescence with photoreceptor morphology and functional changes in eyes with retinitis pigmentosa.

Authors: Taku Wakabayashi; Miki Sawa; Fumi Gomi; Motokazu Tsujikawa
Journal: Acta Ophthalmol Date: 2010-05-19 Impact factor: 3.761

10. Serial imaging and structure-function correlates of high-density rings of fundus autofluorescence in retinitis pigmentosa.

Authors: Anthony G Robson; Adnan Tufail; Fred Fitzke; Alan C Bird; Anthony T Moore; Graham E Holder; Andrew R Webster
Journal: Retina Date: 2011-09 Impact factor: 4.256

12 in total

1. Cell type-specific changes in retinal ganglion cell function induced by rod death and cone reorganization in rats.

Authors: Wan-Qing Yu; Norberto M Grzywacz; Eun-Jin Lee; Greg D Field
Journal: J Neurophysiol Date: 2017-04-19 Impact factor: 2.714

2. Mechanisms of neurodegeneration in a preclinical autosomal dominant retinitis pigmentosa knock-in model with a Rho^D190N mutation.

Authors: Javier Sancho-Pelluz; Xuan Cui; Winston Lee; Yi-Ting Tsai; Wen-Hsuan Wu; Sally Justus; Ilyas Washington; Chun-Wei Hsu; Karen Sophia Park; Susanne Koch; Gabriel Velez; Alexander G Bassuk; Vinit B Mahajan; Chyuan-Sheng Lin; Stephen H Tsang
Journal: Cell Mol Life Sci Date: 2019-04-11 Impact factor: 9.261

3. Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.

Authors: Susanne Kohl; Ditta Zobor; Wei-Chieh Chiang; Nicole Weisschuh; Jennifer Staller; Irene Gonzalez Menendez; Stanley Chang; Susanne C Beck; Marina Garcia Garrido; Vithiyanjali Sothilingam; Mathias W Seeliger; Franco Stanzial; Francesco Benedicenti; Francesca Inzana; Elise Héon; Ajoy Vincent; Jill Beis; Tim M Strom; Günther Rudolph; Susanne Roosing; Anneke I den Hollander; Frans P M Cremers; Irma Lopez; Huanan Ren; Anthony T Moore; Andrew R Webster; Michel Michaelides; Robert K Koenekoop; Eberhart Zrenner; Randal J Kaufman; Stephen H Tsang; Bernd Wissinger; Jonathan H Lin
Journal: Nat Genet Date: 2015-06-01 Impact factor: 38.330

4. Long-term vitamin A supplementation in a preclinical mouse model for RhoD190N-associated retinitis pigmentosa.

Authors: Xuan Cui; Hye Jin Kim; Chia-Hua Cheng; Laura A Jenny; Jose Ronaldo Lima de Carvalho; Ya-Ju Chang; Yang Kong; Chun-Wei Hsu; I-Wen Huang; Sara D Ragi; Chyuan-Sheng Lin; Xiaorong Li; Janet R Sparrow; Stephen H Tsang
Journal: Hum Mol Genet Date: 2022-07-21 Impact factor: 5.121

Review 5. A challenge to the striking genotypic heterogeneity of retinitis pigmentosa: a better understanding of the pathophysiology using the newest genetic strategies.

Authors: F S Sorrentino; C E Gallenga; C Bonifazzi; P Perri
Journal: Eye (Lond) Date: 2016-08-26 Impact factor: 3.775

Review 6. The fundus photo has met its match: optical coherence tomography and adaptive optics ophthalmoscopy are here to stay.

Authors: Jessica I W Morgan
Journal: Ophthalmic Physiol Opt Date: 2016-05 Impact factor: 3.117

Review 7. Adaptive optics imaging of inherited retinal diseases.

Authors: Michalis Georgiou; Angelos Kalitzeos; Emily J Patterson; Alfredo Dubra; Joseph Carroll; Michel Michaelides
Journal: Br J Ophthalmol Date: 2017-11-15 Impact factor: 4.638

Review 8. Cellular imaging of inherited retinal diseases using adaptive optics.

Authors: Jasdeep S Gill; Mariya Moosajee; Adam M Dubis
Journal: Eye (Lond) Date: 2019-06-04 Impact factor: 3.775

9. Clustered Regularly Interspaced Short Palindromic Repeats-Based Genome Surgery for the Treatment of Autosomal Dominant Retinitis Pigmentosa.

Authors: Yi-Ting Tsai; Wen-Hsuan Wu; Ting-Ting Lee; Wei-Pu Wu; Christine L Xu; Karen S Park; Xuan Cui; Sally Justus; Chyuan-Sheng Lin; Ruben Jauregui; Pei-Yin Su; Stephen H Tsang
Journal: Ophthalmology Date: 2018-05-11 Impact factor: 14.277

10. Assessing Photoreceptor Structure in Retinitis Pigmentosa and Usher Syndrome.

Authors: Lynn W Sun; Ryan D Johnson; Christopher S Langlo; Robert F Cooper; Moataz M Razeen; Madia C Russillo; Alfredo Dubra; Thomas B Connor; Dennis P Han; Mark E Pennesi; Christine N Kay; David V Weinberg; Kimberly E Stepien; Joseph Carroll
Journal: Invest Ophthalmol Vis Sci Date: 2016-05-01 Impact factor: 4.799