Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis (Q33845544)

29 July 2017

title

Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis (English)

1 reference

29 July 2017

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Edwin M Stone

3

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Robert Koenekoop

7

object named as

Robert K Koenekoop

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29 July 2017

Sirichai Pasadhika

1

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29 July 2017

Gerald A Fishman

2

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29 July 2017

Martin Lindeman

4

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29 July 2017

Ruth Zelkha

5

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29 July 2017

Irma Lopez

6

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Mahnaz Shahidi

8

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29 July 2017

language of work or name

English

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publication date

3 December 2009

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Investigative Ophthalmology Visual Science

29 July 2017

published in

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29 July 2017

volume

51

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29 July 2017

issue

5

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29 July 2017

page(s)

2608-2614

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describes a project that uses

29 July 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2868490/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics

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Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial

28 July 2018

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Thickness profiles of retinal layers by optical coherence tomography image segmentation.

28 July 2018

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28 July 2018

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Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations

28 July 2018

1 reference

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Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis

28 July 2018

1 reference

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RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression

28 July 2018

1 reference

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The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations

28 July 2018

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Mutation analysis of 3 genes in patients with Leber congenital amaurosis

28 July 2018

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Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis

28 July 2018

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Leber congenital amaurosis and its association with keratoconus and keratoglobus.

28 July 2018

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Yellowish flecks in Leber's congenital amaurosis

28 July 2018

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28 July 2018

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High hyperopia in Leber's congenital amaurosis

28 July 2018

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Successful RPE65 gene replacement and improved visual function in humans

28 July 2018

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Effect of gene therapy on visual function in Leber's congenital amaurosis

29 October 2018

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Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients

29 October 2018

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Evaluation of genotype-phenotype associations in leber congenital amaurosis

29 October 2018

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Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis

29 October 2018

1 reference

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29 October 2018

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Mutational analysis and clinical correlation in Leber congenital amaurosis

29 October 2018

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Macular colobomas in Leber's congenital amaurosis

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12 December 2020

Leber's congenital amaurosis

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The natural history of Leber's congenital amaurosis. Age-related findings in 35 patients

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[Leber congenital amaurosis: diagnosis, follow-up and differential diagnosis]

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12 December 2020

Identifiers

DOI

10.1167/IOVS.09-3734

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29 July 2017

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29 July 2017

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