Literature DB >> 2694415

The infant with nystagmus, normal appearing fundi, but an abnormal ERG.

S R Lambert1, D Taylor, A Kriss.   

Abstract

Many retinal disorders present during infancy with nystagmus, decreased vision, and normal-appearing fundi, but an abnormal ERG. The most common of these disorders are Leber's congenital amaurosis, achromatopsia, and congenital stationary night-blindness. Other disorders with similar ocular manifestations may be associated with a variety of life-threatening systemic abnormalities. This review describes the clinical, electrophysiological, and laboratory findings that can be used to distinguish among these conditions.

Entities:  

Mesh：

Year:  1989        PMID： 2694415     DOI： 10.1016/0039-6257(89)90101-x

Source DB:  PubMed          Journal:  Surv Ophthalmol        ISSN： 0039-6257            Impact factor:   6.048


  6 in total

Review 1.  Nystagmus in infancy.

Authors:  I Casteels; C M Harris; F Shawkat; D Taylor
Journal:  Br J Ophthalmol       Date:  1992-07       Impact factor: 4.638

2.  Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome.

Authors:  John Hoon Rim; Seung-Tae Lee; Heon Yung Gee; Byung Joo Lee; Jong Rak Choi; Hye Won Park; Sueng-Han Han; Jinu Han
Journal:  JAMA Ophthalmol       Date:  2017-12-01       Impact factor: 7.389

Review 3.  Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy.

Authors:  Artur V Cideciyan
Journal:  Prog Retin Eye Res       Date:  2010-04-24       Impact factor: 21.198

4.  Phenotype-genotype correlations in X linked retinitis pigmentosa.

Authors:  J Kaplan; A Pelet; C Martin; O Delrieu; S Aymé; D Bonneau; M L Briard; A Hanauer; L Larget-Piet; P Lefrançois
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318

5.  The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA.

Authors:  Clara J Men; Kinga M Bujakowska; Jason Comander; Emily Place; Emma C Bedoukian; Xiaosong Zhu; Bart P Leroy; Anne B Fulton; Eric A Pierce
Journal:  Mol Vis       Date:  2017-10-10       Impact factor: 2.367

Review 6.  What can visual electrophysiology tell about possible visual-field defects in paediatric patients.

Authors:  Siân E Handley; Maja Šuštar; Manca Tekavčič Pompe
Journal:  Eye (Lond)       Date:  2021-07-16       Impact factor: 3.775
  6 in total

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