Literature DB >> 2413832

High hyperopia in Leber's congenital amaurosis.

R S Wagner, A R Caputo, L B Nelson, D Zanoni.   

Abstract

Few studies comment on the type of refractive errors found in patients with Leber's congenital amaurosis. The association of an uncomplicated infantile form of this condition with high hyperopia but without systemic complications has been suggested. In a retrospective study, we identified 11 patients who satisfied the criteria for the diagnosis of this subtype of Leber's congenital amaurosis. All of our cases were found to have at least +6.00 diopters of hyperopia on cycloplegic refraction. No systemic abnormalities were found in any of these children. We suggest that high hyperopia be included in the diagnostic criteria of this specific form of Leber's congenital amaurosis.

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Year:  1985        PMID: 2413832     DOI: 10.1001/archopht.1985.01050100083024

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN: 0003-9950


  6 in total

1.  A novel locus for Leber congenital amaurosis maps to chromosome 6q.

Authors:  S Dharmaraj; Y Li; J M Robitaille; E Silva; D Zhu; T N Mitchell; L P Maltby; A B Baffoe-Bonnie; I H Maumenee
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

Review 2.  Review and update on the molecular basis of Leber congenital amaurosis.

Authors:  Oscar Francisco Chacon-Camacho; Juan Carlos Zenteno
Journal:  World J Clin Cases       Date:  2015-02-16       Impact factor: 1.337

3.  Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis.

Authors:  Sirichai Pasadhika; Gerald A Fishman; Edwin M Stone; Martin Lindeman; Ruth Zelkha; Irma Lopez; Robert K Koenekoop; Mahnaz Shahidi
Journal:  Invest Ophthalmol Vis Sci       Date:  2009-12-03       Impact factor: 4.799

4.  Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13.

Authors:  A Camuzat; J M Rozet; H Dollfus; S Gerber; I Perrault; J Weissenbach; A Munnich; J Kaplan
Journal:  Hum Genet       Date:  1996-06       Impact factor: 4.132

5.  Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study.

Authors:  Francesco Testa; Andrea Sodi; Sabrina Signorini; Valentina Di Iorio; Vittoria Murro; Raffaella Brunetti-Pierri; Enza Maria Valente; Marianthi Karali; Paolo Melillo; Sandro Banfi; Francesca Simonelli
Journal:  Invest Ophthalmol Vis Sci       Date:  2021-07-01       Impact factor: 4.799

6.  Ametropia and Emmetropization in CNGB3 Achromatopsia.

Authors:  Mette Kjøbæk Gundestrup Andersen; Line Kessel
Journal:  Invest Ophthalmol Vis Sci       Date:  2021-02-01       Impact factor: 4.799

  6 in total

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