Literature DB >> 12101445

Molecular genetics of rhegmatogenous retinal detachment.

A J Richards1, J D Scott, M P Snead.   

Abstract

Rhegmatogenous retinal detachment (RRD) most commonly occurs as a spontaneous event resulting from posterior vitreous detachment, typically between the ages of 40-70 yrs. It is also a feature in some inherited disorders, most commonly Stickler syndrome. The relationship between these inherited disorders and the spontaneous cases is unclear. Here in particular we review Stickler syndrome, and discuss the differential diagnosis of Stickler, Wagner and Marshall syndromes. Other rare inherited disorders associated with RRD are also briefly reviewed.

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Year:  2002        PMID: 12101445     DOI: 10.1038/sj.eye.6700195

Source DB:  PubMed          Journal:  Eye (Lond)        ISSN: 0950-222X            Impact factor:   3.775


  8 in total

1.  Vitreoretinal abnormalities in the Conradi-Hunermann form of chondrodysplasia punctata.

Authors:  Y D Ramkissoon; E J Mayer; C Gibbon; R J Haynes
Journal:  Br J Ophthalmol       Date:  2004-07       Impact factor: 4.638

2.  Analysis of the vitreous membrane in a case of type 1 Stickler syndrome.

Authors:  Tadashi Yokoi; Ryouhei Koide; Kentaro Matsuoka; Atsuko Nakagawa; Noriyuki Azuma
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2008-12-17       Impact factor: 3.117

3.  Knobloch syndrome associated with Polymicrogyria and early onset of retinal detachment: two case reports.

Authors:  Robert J White; Yao Wang; Peter Tang; Sandra R Montezuma
Journal:  BMC Ophthalmol       Date:  2017-11-25       Impact factor: 2.209

Review 4.  Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review.

Authors:  Dan-Dan Wang; Feng-Juan Gao; Fang-Yuan Hu; Sheng-Hai Zhang; Ping Xu; Ji-Hong Wu
Journal:  BMC Med Genet       Date:  2020-02-10       Impact factor: 2.103

5.  Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family.

Authors:  Hong Wu; Songtian Che; Shuchun Li; Yan Cheng; Jun Xiao; Zaoxia Liu
Journal:  Mol Genet Genomic Med       Date:  2021-08-18       Impact factor: 2.183

6.  Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1.

Authors:  Soon-Il Choi; Se-Joon Woo; Baek-Lok Oh; Jinu Han; Hyun-Taek Lim; Byung-Joo Lee; Kwangsic Joo; Jun-Young Park; Ja-Hyun Jang; Min-Kyung So; Sang-Jin Kim
Journal:  Genes (Basel)       Date:  2021-10-05       Impact factor: 4.096

7.  Long-term surgical outcomes of retinal detachment in patients with Stickler syndrome.

Authors:  Devasis N Reddy; Yoshihiro Yonekawa; Benjamin J Thomas; Eric D Nudleman; George A Williams
Journal:  Clin Ophthalmol       Date:  2016-08-16

8.  Bilateral Asymmetric Rhegmatogenous Retinal Detachment in a Patient with Stickler Syndrome.

Authors:  Caner Öztürk; Almila Sarıgül Sezenöz; Gürsel Yılmaz; İmren Akkoyun
Journal:  Turk J Ophthalmol       Date:  2018-04-25
  8 in total

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