Leber Congenital Amaurosis

"Leber Congenital Amaurosis" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

A rare degenerative inherited eye disease that appears at birth or in the first few months of life that results in a loss of vision. Not to be confused with LEBER HEREDITARY OPTIC NEUROPATHY, the disease is thought to be caused by abnormal development of PHOTORECEPTOR CELLS in the RETINA, or by the extremely premature degeneration of retinal cells.

Descriptor ID

D057130

MeSH Number(s)

C11.270.516

C11.768.364

Concept/Terms

Leber Congenital Amaurosis

Below are MeSH descriptors whose meaning is more general than "Leber Congenital Amaurosis".

Diseases [C]
Eye Diseases [C11]
Eye Diseases, Hereditary [C11.270]
Leber Congenital Amaurosis [C11.270.516]
Retinal Diseases [C11.768]
Leber Congenital Amaurosis [C11.768.364]

Below are MeSH descriptors whose meaning is related to "Leber Congenital Amaurosis".

Below are MeSH descriptors whose meaning is more specific than "Leber Congenital Amaurosis".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Leber Congenital Amaurosis" by people in Harvard Catalyst Profiles by year, and whether "Leber Congenital Amaurosis" was a major or minor topic of these publication.

Bar chart showing 21 publications over 13 distinct years, with a maximum of 3 publications in 2009 and 2013 and 2016

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
2009	2	1	3
2010	0	1	1
2011	2	0	2
2012	2	0	2
2013	3	0	3
2014	1	0	1
2015	1	0	1
2016	3	0	3
2017	1	0	1
2019	1	0	1
2020	0	1	1
2021	1	0	1
2023	1	0	1

Below are the most recent publications written about "Leber Congenital Amaurosis" by people in Profiles.

Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis. Am J Med Genet A. 2023 04; 191(4):1007-1012.

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Homozygosity mapping coupled with whole-exome sequencing and protein modelling identified a novel missense mutation in GUCY2D in a consanguineous Pakistani family with Leber congenital amaurosis. J Genet. 2021; 100.

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Defective INPP5E distribution in NPHP1-related Senior-Loken syndrome. Mol Genet Genomic Med. 2021 01; 9(1):e1566.

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Biallelic RP1-associated retinal dystrophies: Expanding the mutational and clinical spectrum. Mol Vis. 2020; 26:423-433.

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Emerging Treatments for Leber's Hereditary Optic Neuropathy and Other Genetic Causes of Visual Loss. Semin Neurol. 2019 12; 39(6):732-738.

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Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital Blindness. Mol Ther. 2018 06 06; 26(6):1581-1593.

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The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA. Mol Vis. 2017; 23:695-706.

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Available Evidence on Leber Congenital Amaurosis and Gene Therapy. Semin Ophthalmol. 2017; 32(1):14-21.

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Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease. Am J Pathol. 2016 07; 186(7):1925-1938.

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In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery. Hum Mol Genet. 2016 06 15; 25(12):2552-2563.

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