Literature DB >> 30578485

Progressive Cone Dystrophy and Cone-Rod Dystrophy (XL, AD, and AR).

Stephen H Tsang1,2, Tarun Sharma3.   

Abstract

A heterogenous group of diseases, progressive cone dystrophy usually begins in the mid-teenage years or later in life. The estimated prevalence is 1 in 30,000-40,000 individuals. Patients usually present with decreased central vision and a color vision deficit; the visual loss is progressive and often accompanied by day blindness (hemeralopia) and light intolerance (photophobia). Over time, affected individuals develop night blindness and loss of peripheral field. Visual acuity deteriorates to 20/200 or even counting fingers. There is some association between X-linked cone-rod dystrophy (CORD) and high myopia.

Entities:  

Keywords:  Cone dystrophy; Cone-rod dystrophy; X-linked

Mesh:

Year:  2018        PMID: 30578485     DOI: 10.1007/978-3-319-95046-4_12

Source DB:  PubMed          Journal:  Adv Exp Med Biol        ISSN: 0065-2598            Impact factor:   2.622


  8 in total

1.  Structural Analysis of the Regulatory GAF Domains of cGMP Phosphodiesterase Elucidates the Allosteric Communication Pathway.

Authors:  Richa Gupta; Yong Liu; Huanchen Wang; Christopher T Nordyke; Ryan Z Puterbaugh; Wenjun Cui; Krisztina Varga; Feixia Chu; Hengming Ke; Harish Vashisth; Rick H Cote
Journal:  J Mol Biol       Date:  2020-09-06       Impact factor: 5.469

Review 2.  Photoreceptor phosphodiesterase (PDE6): activation and inactivation mechanisms during visual transduction in rods and cones.

Authors:  Rick H Cote
Journal:  Pflugers Arch       Date:  2021-04-15       Impact factor: 4.458

3.  Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies.

Authors:  Bilal Azab; Zain Dardas; Dunia Aburizeg; Muawyah Al-Bdour; Mohammed Abu-Ameerh; Tareq Saleh; Raghda Barham; Ranad Maswadi; Nidaa A Ababneh; Mohammad Alsalem; Hana Zouk; Sami Amr; Abdalla Awidi
Journal:  Genes (Basel)       Date:  2021-04-19       Impact factor: 4.096

4.  Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family.

Authors:  Yafang Wang; Shu Liu; Yuanqi Zhai; Yang Liu; Xiaoling Wan; Wenqiu Wang; Fenghua Wang; Xiaodong Sun
Journal:  BMC Ophthalmol       Date:  2021-11-20       Impact factor: 2.209

Review 5.  Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.

Authors:  Aymane Bouzidi; Hicham Charoute; Majida Charif; Ghita Amalou; Mostafa Kandil; Abdelhamid Barakat; Guy Lenaers
Journal:  Orphanet J Rare Dis       Date:  2022-05-12       Impact factor: 4.303

6.  Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.

Authors:  Vasily Smirnov; Olivier Grunewald; Jean Muller; Christina Zeitz; Carolin D Obermaier; Aurore Devos; Valérie Pelletier; Béatrice Bocquet; Camille Andrieu; Jean-Louis Bacquet; Elodie Lebredonchel; Saddek Mohand-Saïd; Sabine Defoort-Dhellemmes; José-Alain Sahel; Hélène Dollfus; Xavier Zanlonghi; Isabelle Audo; Isabelle Meunier; Elise Boulanger-Scemama; Claire-Marie Dhaenens
Journal:  Int J Mol Sci       Date:  2021-06-15       Impact factor: 5.923

Review 7.  Reviewing the Role of Ultra-Widefield Imaging in Inherited Retinal Dystrophies.

Authors:  Maria Vittoria Cicinelli; Alessandro Marchese; Alessandro Bordato; Maria Pia Manitto; Francesco Bandello; Maurizio Battaglia Parodi
Journal:  Ophthalmol Ther       Date:  2020-03-05

Review 8.  Photoreceptor Phosphodiesterase (PDE6): Structure, Regulatory Mechanisms, and Implications for Treatment of Retinal Diseases.

Authors:  Rick H Cote; Richa Gupta; Michael J Irwin; Xin Wang
Journal:  Adv Exp Med Biol       Date:  2022       Impact factor: 3.650

  8 in total

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