Evidence map›Paper›PMID 29671669›Full record

ArticleOphthalmic genetics2018

Confirmation and refinement of the heterozygous deletion of the small leucine-rich proteoglycans associated with posterior amorphous corneal dystrophy.

Aleck E Cervantes, Katherine M Gee, Martha F Whiting, Ricardo F Frausto, Anthony J Aldave

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In one paragraph

Article in Ophthalmic genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.1field-weighted citation impact, top 55% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 5 citations in OpenAlex.

  1. Article
4 · The record

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PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors at 1 institution in 1 country.

Aleck E Cervantesa Stein Eye Institute , David Geffen School of Medicine at UCLA , Los Angeles , CA , USA.
Katherine M Geea Stein Eye Institute , David Geffen School of Medicine at UCLA , Los Angeles , CA , USA.
Martha F Whitinga Stein Eye Institute , David Geffen School of Medicine at UCLA , Los Angeles , CA , USA.
Ricardo F Fraustoa Stein Eye Institute , David Geffen School of Medicine at UCLA , Los Angeles , CA , USA.
Anthony J Aldavea Stein Eye Institute , David Geffen School of Medicine at UCLA , Los Angeles , CA , USA.
Doheny Eye Institute · US

Funding

Vision Research Core at UCLAP30EY000331 · NEI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI Gregory Darin Field, DAVID S WILLIAMS · 1985 to 2026
$16.8M
Identification and Characterization of the Genetic Basis of PPCDR01EY022082 · NEI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ALDAVE, ANTHONY JOHN · 2013 to 2017
$1.9M
NEI NIH HHS P30 EY000331NEI NIH HHS R01 EY022082
6 · The paper itself

Abstract

purposeTo present the clinical and cytogenetic features of a previously unreported family with posterior amorphous corneal dystrophy (PACD) associated with a heterozygous deletion of the small leucine-rich proteoglycan (SRLP) genes on chromosome 12.

methodsClinical characterization was performed using slit lamp biomicroscopic and optical coherence tomography (OCT) imaging. Genomic DNA was collected from affected and unaffected family members, and a cytogenomic array was used to identify copy number variations (CNV) present in the PACD locus.

resultsThree members of a Guatemalan family presented with clinical characteristics consistent with PACD: bilateral posterior stromal lamellar opacification, decreased corneal curvature, and iridocorneal adhesions. OCT imaging demonstrated decreased corneal thickness and hyperreflectivity of the posterior third of the corneal stroma. CNV analysis confirmed the presumed clinical diagnosis of PACD by revealing a 0.304 Mb heterozygous deletion in the PACD locus on chromosome 12 that included the four SLRP genes (KERA, LUM, DCN, and EPYC) deleted in each of the PACD families in which CNV analysis has been reported.

conclusionsThis is the first report of the OCT appearance of PACD and the second confirmation of a heterozygous deletion of chromosome 12q21.33 as the cause of PACD, highlighting the utility of array-based cytogenomics to confirm the suspected clinical diagnosis of PACD. As the smallest previously reported pathogenic deletion was 0.701 Mb, the 0.304-Mb deletion we report is the smallest identified to date and reduces the size of the PACD locus to 0.275 Mb.

Indexed as

DNA Copy Number VariationsSequence DeletionAdolescentChild, PreschoolChromosomes, Human, Pair 12Corneal Dystrophies, HereditaryCorneal TopographyFemaleHeterozygoteHumansMaleMiddle AgedMutationPedigreeSlit Lamp MicroscopySmall Leucine-Rich ProteoglycansSmall Leucine-Rich ProteoglycansCNVcopy number variationOCToptical coherence tomographyPACDposterior amorphous corneal dystrophySLRPssmall leucine-rich proteoglycans

Identifiers

PMID29671669
PMCPMC6309915
OpenAlexW2799683570

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.