Literature DB >> 835663

Macular colobomas in Leber's congenital amaurosis.

S Margolis, B M Scher, R E Carr.   

Abstract

Two siblings with Leber's congenital amaurosis had the unusual association of bilateral macular colobomas. In addition to the colobomas, the patients also had deafmutism, severe myopia, large corneas, and an unusual discrete area of peripapillary tapetoretinal sheen. Electrodiagnostic evaluation of patients with congenitally poor visual ascuity and a central retinal defect differentiated a localized loss of funciton from a degeneration involving the entire retina.

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Year:  1977        PMID： 835663     DOI： 10.1016/0002-9394(77)90187-8

Source DB:  PubMed          Journal:  Am J Ophthalmol        ISSN： 0002-9394            Impact factor:   5.258


  11 in total

1.  Juvenile atrophy of pigment epithelium and choriocapillaris.

Authors:  C Hoyng; A Pinckers; A Deutman
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1992       Impact factor: 3.117

2.  Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/early-onset retinal dystrophy with RDH12 mutation.

Authors:  Kazuki Kuniyoshi; Hiroyuki Sakuramoto; Kazutoshi Yoshitake; Kosuke Abe; Kazuho Ikeo; Masaaki Furuno; Kazushige Tsunoda; Shunji Kusaka; Yoshikazu Shimomura; Takeshi Iwata
Journal:  Doc Ophthalmol       Date:  2014-04-22       Impact factor: 2.379

Review 3.  Retinal dystrophy and macular coloboma.

Authors:  J R Heckenlively; S G Foxman; E S Parelhoff
Journal:  Doc Ophthalmol       Date:  1988 Mar-Apr       Impact factor: 2.379

4.  Senior-Løken syndrome with marbelized fundus and unusual skeletal abnormalities. A case report.

Authors:  B Lauweryns; A Leys; E Van Haesendonck; L Missotten
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1993-04       Impact factor: 3.117

5.  Familial bilateral macular colobomata.

Authors:  S A Miller; G Bresnick
Journal:  Br J Ophthalmol       Date:  1978-04       Impact factor: 4.638

6.  Bilateral macular colobomas in Leber's congenital amaurosis.

Authors:  K Murayama; E Adachi-Usami
Journal:  Doc Ophthalmol       Date:  1989-06       Impact factor: 2.379

7.  Bilateral macular dysplasia ('colobomata') and congenital retinal dystrophy.

Authors:  A T Moore; D S Taylor; A Harden
Journal:  Br J Ophthalmol       Date:  1985-09       Impact factor: 4.638

8.  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

9.  A syndrome of congenital retinal dystrophy and saccade palsy--a subset of Leber's amaurosis.

Authors:  A T Moore; D S Taylor
Journal:  Br J Ophthalmol       Date:  1984-06       Impact factor: 4.638

10.  Bilateral macular coloboma and pigmented paravenous retinochoroidal atrophy.

Authors:  M S Chen; C H Yang; J S Huang
Journal:  Br J Ophthalmol       Date:  1992-04       Impact factor: 4.638
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