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Article ; Online: Using Adjustable-Focus Spectacles in Young Children to Meet Increasing Eyecare Needs.

Young, Terri L

2023 Volume 141, Issue 9, Page(s) 860–861

MeSH term(s)	Humans ; Child ; Child, Preschool ; Eyeglasses
Language	English
Publishing date	2023-08-24
Publishing country	United States
Document type	Editorial ; Comment
ZDB-ID	2701705-9
ISSN	2168-6173 ; 2168-6165
ISSN (online)	2168-6173
ISSN	2168-6165
DOI	10.1001/jamaophthalmol.2023.3760
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Article: Assaying the Effects of Splice Site Variants by Exon Trapping in a Mammalian Cell Line.

Tompson, Stuart W / Young, Terri L

Bio-protocol

2017 Volume 7, Issue 10

Abstract: There are ... ...

Abstract	There are several
Language	English
Publishing date	2017-07-20
Publishing country	United States
Document type	Journal Article
ZDB-ID	2833269-6
ISSN	2331-8325
ISSN	2331-8325
DOI	10.21769/BioProtoc.2281
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Article ; Online: Sonic Hedgehog Intron Variant Associated With an Unusual Pediatric Cortical Cataract.

Young, Terri L / Whisenhunt, Kristina N / LaMartina, Sarah M / Hewitt, Alex W / Mackey, David A / Tompson, Stuart W

Investigative ophthalmology & visual science

2022 Volume 63, Issue 6, Page(s) 25

Abstract: Purpose: To identify the genetic basis of an unusual pediatric cortical cataract demonstrating autosomal dominant inheritance in a large European-Australian pedigree.: Methods: DNA from four affected individuals were exome sequenced utilizing a ... ...

Abstract	Purpose: To identify the genetic basis of an unusual pediatric cortical cataract demonstrating autosomal dominant inheritance in a large European-Australian pedigree. Methods: DNA from four affected individuals were exome sequenced utilizing a NimbleGen SeqCap EZ Exome V3 kit and HiSeq 2500. DNA from 12 affected and four unaffected individuals were genotyped using Human OmniExpress-24 BeadChips. Multipoint linkage and haplotyping were performed (Superlink-Online SNP). DNA from one affected individual and his unaffected father were whole-genome sequenced on a HiSeq X Ten system. Rare small insertions/deletions and single-nucleotide variants (SNVs) were identified in the disease-linked region (Golden Helix SVS). Combined Annotation Dependent Depletion (CADD) analysis predicted variant deleteriousness. Putative enhancer function and variant effects were determined using the Dual-Glo Luciferase Assay system. Results: Linkage mapping identified a 6.23-centimorgan support interval at chromosome 7q36. A co-segregating haplotype refined the critical region to 6.03 Mbp containing 21 protein-coding genes. Whole-genome sequencing uncovered 114 noncoding variants from which CADD predicted one was highly deleterious, a novel substitution within intron-1 of the sonic hedgehog signaling molecule (SHH) gene. ENCODE data suggested this site was a putative enhancer, subsequently confirmed by luciferase reporter assays with variant-associated gene overexpression. Conclusions: In a large pedigree, we have identified a SHH intron variant that co-segregates with an unusual pediatric cortical cataract phenotype. SHH is important for lens formation, and mutations in its receptor (PTCH1) cause syndromic cataract. Our data implicate increased function of an enhancer important for SHH expression primarily within developing eye tissues.
MeSH term(s)	Australia ; Cataract/genetics ; Child ; Genetic Linkage ; Hedgehog Proteins/genetics ; Humans ; Introns/genetics ; Mutation ; Pedigree
Chemical Substances	Hedgehog Proteins
Language	English
Publishing date	2022-06-24
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	391794-0
ISSN	1552-5783 ; 0146-0404
ISSN (online)	1552-5783
ISSN	0146-0404
DOI	10.1167/iovs.63.6.25
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Article ; Online: Molecular genetics of human myopia: an update.

Young, Terri L

Optometry and vision science : official publication of the American Academy of Optometry

2008 Volume 86, Issue 1, Page(s) E8–E22

Abstract: Myopia, or nearsightedness, is the most common human eye disorder in the world, and is a significant global public health concern. Along with cataract, macular degeneration, infectious disease, and vitamin A deficiency, myopia is one of the most ... ...

Abstract	Myopia, or nearsightedness, is the most common human eye disorder in the world, and is a significant global public health concern. Along with cataract, macular degeneration, infectious disease, and vitamin A deficiency, myopia is one of the most important causes of visual impairment worldwide. Severe or high-grade myopia is a leading cause of blindness because of its associated ocular morbidities of retinal detachment, macular choroidal degeneration, premature cataract, and glaucoma. Ample evidence documents the heritability of the non-syndromic forms of this condition, especially for high-grade myopia, commonly referred to as myopic spherical refractive power of 5 to 6 diopters or higher. Multiple high-grade myopia genetic loci have been identified, and confirmatory studies identifying high-grade and moderate myopia loci have also occurred. In general, myopia susceptibility genes are unknown with few association studies performed, and without confirmation in other research laboratories or testing of separate patient cohorts.
MeSH term(s)	Animals ; Child ; Disease Models, Animal ; Education/standards ; Eye/growth & development ; Humans ; Longitudinal Studies ; Molecular Biology/methods ; Molecular Biology/trends ; Myopia/epidemiology ; Myopia/genetics ; Ocular Physiological Phenomena ; Research/trends ; Risk Factors
Language	English
Publishing date	2008-12-11
Publishing country	United States
Document type	Congress ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1001706-9
ISSN	1538-9235 ; 1040-5488
ISSN (online)	1538-9235
ISSN	1040-5488
DOI	10.1097/OPX.0b013e3181940655
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Article ; Online: Genetic contributions to myopic refractive error: Insights from human studies and supporting evidence from animal models.

Hawthorne, Felicia A / Young, Terri L

Experimental eye research

2013 Volume 114, Page(s) 141–149

Abstract: Genetic studies of both population-based and recruited affected patient cohorts have identified a number of genomic regions and candidate genes that may contribute to myopic development. Scientists have developed animal models of myopia, as collection of ...

Abstract	Genetic studies of both population-based and recruited affected patient cohorts have identified a number of genomic regions and candidate genes that may contribute to myopic development. Scientists have developed animal models of myopia, as collection of affected tissues from patents is impractical. Recent advances in whole exome sequencing technology show promise for further elucidation of disease causing variants as in the recent identification of rare variants within ZNF644 segregating with pathological myopia. We present a review of the current research trends and findings on genetic contributions to myopic refraction including candidate loci for myopic development and their genomic convergence with expression studies of animal models inducing myopic development.
MeSH term(s)	Animals ; Disease Models, Animal ; Gene Expression Profiling ; Genetic Linkage ; Genome-Wide Association Study ; Humans ; Myopia/genetics ; Myopia/pathology ; Transcription Factors/genetics
Chemical Substances	Transcription Factors ; ZNF644 protein, human
Language	English
Publishing date	2013-09
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	80122-7
ISSN	1096-0007 ; 0014-4835
ISSN (online)	1096-0007
ISSN	0014-4835
DOI	10.1016/j.exer.2012.12.015
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Article ; Online: Ophthalmic manifestations in Costello syndrome caused by Ras pathway dysregulation during development.

Shankar, Suma P / Fallurin, Reshmitha / Watson, Tonya / Shankar, Prabhu R / Young, Terri L / Orel-Bixler, Deborah / Rauen, Katherine A

Ophthalmic genetics

2021 Volume 43, Issue 1, Page(s) 48–57

Abstract: Background: Costello syndrome (CS) is a multisystem developmental disorder caused by germline pathogenic variants in : Methods: Visual function, ocular features and genotype/phenotype correlations were evaluated in CS individuals harboring : ... ...

Abstract	Background: Costello syndrome (CS) is a multisystem developmental disorder caused by germline pathogenic variants in Methods: Visual function, ocular features and genotype/phenotype correlations were evaluated in CS individuals harboring Results: Fifty-six molecularly diagnosed CS individuals including 34 females and 22 males, ages ranging from 0.5 to 37 years were enrolled. The most common ophthalmic manifestations in the cross-sectional study were lack of stereopsis (96%), refractive errors (83%), strabismus (72%), nystagmus (69%), optic nerve hypoplasia or pallor (55%) and ptosis (13.7%) with higher prevalence than in the retrospective data (refractive errors (41%), strabismus (44%), nystagmus (26%), optic nerve hypoplasia or pallor (7%) and ptosis (11%)). Visual acuities were found to ranged from 20/25 to 20/800 and contrast sensitivity from 1.6% to 44%. Conclusion: Majority of individuals with CS have refractive errors, strabismus, nystagmus, absent stereopsis, and optic nerve abnormalities suggesting that
MeSH term(s)	Costello Syndrome/diagnosis ; Costello Syndrome/genetics ; Cross-Sectional Studies ; Female ; Humans ; Male ; Optic Nerve Hypoplasia ; Pallor ; Quality of Life ; Refractive Errors ; Retrospective Studies ; Strabismus
Language	English
Publishing date	2021-10-06
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1199279-7
ISSN	1744-5094 ; 0167-6784 ; 1381-6810
ISSN (online)	1744-5094
ISSN	0167-6784 ; 1381-6810
DOI	10.1080/13816810.2021.1978103
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Article ; Online: Hypotrichosis with juvenile macular dystrophy: a case report with molecular study.

Vicente, Lucas Perez / Finzi, Simone / Susanna, Remo / Young, Terri L

Arquivos brasileiros de oftalmologia

2017 Volume 80, Issue 1, Page(s) 49–51

Abstract: Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disorder characterized by sparse scalp hair caused by hair follicle abnormalities as well as progressive retinal degeneration leading to blindness in the second or third decade ... ...

Abstract	Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disorder characterized by sparse scalp hair caused by hair follicle abnormalities as well as progressive retinal degeneration leading to blindness in the second or third decade of life. It is associated with mutations of the cadherin 3 (CDH3) gene, which result in abnormal expression of P-cadherin. Mutations in CDH3 are related to ectodermal dysplasia, ectrodactyly, and macular dystrophy. In this report, we describe an 11-year-old Iranian boy born with a missing left index fingernail and sparse scalp hair who later displayed macular pigmentary changes. Genetic testing of the CDH3 gene revealed a homozygous gene variant at exon 6 (640A>T). This novel in-frame mutation converts a lysine to a premature stop codon, altering synthesis of P-cadherin on chromosome 16q22.
MeSH term(s)	Cadherins/genetics ; Child ; Corneal Dystrophies, Hereditary/genetics ; Humans ; Hypotrichosis/genetics ; Iran ; Macular Degeneration/genetics ; Male ; Mutation
Chemical Substances	Cadherins
Language	English
Publishing date	2017-01
Publishing country	Brazil
Document type	Case Reports
ZDB-ID	603915-7
ISSN	1678-2925 ; 0004-2749
ISSN (online)	1678-2925
ISSN	0004-2749
DOI	10.5935/0004-2749.20170013
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Article: Dissecting the genetics of human high myopia: a molecular biologic approach.

Young, Terri L

Transactions of the American Ophthalmological Society

2005 Volume 102, Page(s) 423–445

Abstract: Purpose: Despite the plethora of experimental myopia animal studies that demonstrate biochemical factor changes in various eye tissues, and limited human studies utilizing pharmacologic agents to thwart axial elongation, we have little knowledge of the ... ...

Abstract	Purpose: Despite the plethora of experimental myopia animal studies that demonstrate biochemical factor changes in various eye tissues, and limited human studies utilizing pharmacologic agents to thwart axial elongation, we have little knowledge of the basic physiology that drives myopic development. Identifying the implicated genes for myopia susceptibility will provide a fundamental molecular understanding of how myopia occurs and may lead to directed physiologic (ie, pharmacologic, gene therapy) interventions. The purpose of this proposal is to describe the results of positional candidate gene screening of selected genes within the autosomal dominant high-grade myopia-2 locus (MYP2) on chromosome 18p11.31. Methods: A physical map of a contracted MYP2 interval was compiled, and gene expression studies in ocular tissues using complementary DNA library screens, microarray matches, and reverse-transcription techniques aided in prioritizing gene selection for screening. The TGIF, EMLIN-2, MLCB, and CLUL1 genes were screened in DNA samples from unrelated controls and in high-myopia affected and unaffected family members from the original seven MYP2 pedigrees. All candidate genes were screened by direct base pair sequence analysis. Results: Consistent segregation of a gene sequence alteration (polymorphism) with myopia was not demonstrated in any of the seven families. Novel single nucleotide polymorphisms were found. Conclusion: The positional candidate genes TGIF, EMLIN-2, MLCB, and CLUL1 are not associated with MYP2-linked high-grade myopia. Base change polymorphisms discovered with base sequence screening of these genes were submitted to an Internet database. Other genes that also map within the interval are currently undergoing mutation screening.
MeSH term(s)	Case-Control Studies ; Chromosome Mapping ; Chromosomes, Human, Pair 18 ; Eye Proteins/genetics ; Genes, Dominant ; Genetic Testing ; Homeodomain Proteins/genetics ; Humans ; Molecular Biology/methods ; Myopia/genetics ; Pedigree ; Repressor Proteins/genetics
Chemical Substances	CLUL1 protein, human ; Eye Proteins ; Homeodomain Proteins ; Repressor Proteins ; TGIF1 protein, human
Language	English
Publishing date	2005-03-07
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S.
ZDB-ID	391375-2
ISSN	1545-6110 ; 0065-9533
ISSN (online)	1545-6110
ISSN	0065-9533
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Article ; Online: An evidence-based update on myopia and interventions to retard its progression.

Leo, Seo-Wei / Young, Terri L

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus

2011 Volume 15, Issue 2, Page(s) 181–189

Abstract: Myopia is the most common human eye disorder. With its increasing prevalence and earlier age-of-onset in recent birth cohorts, myopia now affects almost 33% of adults in the United States, and epidemic proportions of 85% to 90% adults in Asian cities. ... ...

Abstract	Myopia is the most common human eye disorder. With its increasing prevalence and earlier age-of-onset in recent birth cohorts, myopia now affects almost 33% of adults in the United States, and epidemic proportions of 85% to 90% adults in Asian cities. Unlike children in Western populations, where the prevalence of myopia is very low (less than 5%), Asian children have prevalences as high as 29% in 7-year-olds. In addition to the direct economic and social burdens of myopia, associated ocular complications may lead to substantial vision loss. This workshop summarizes the current literature regarding myopia epidemiology, genetics, animal model studies, risk factors, and clinical treatments. Published treatment strategies to retard the progression of myopia in children, such as pharmacologic agents, progressive addition lenses, and neural adaptation programs, are outlined.
MeSH term(s)	Animals ; Atropine/therapeutic use ; Disease Models, Animal ; Disease Progression ; Female ; Humans ; Male ; Muscarinic Antagonists/therapeutic use ; Myopia/epidemiology ; Myopia/genetics ; Myopia/physiopathology ; Myopia/therapy ; Orthokeratologic Procedures ; Pirenzepine/therapeutic use ; Prevalence ; Risk Factors ; Sensory Deprivation
Chemical Substances	Muscarinic Antagonists ; Pirenzepine (3G0285N20N) ; Atropine (7C0697DR9I)
Language	English
Publishing date	2011-02-26
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1412476-2
ISSN	1528-3933 ; 1091-8531
ISSN (online)	1528-3933
ISSN	1091-8531
DOI	10.1016/j.jaapos.2010.09.020
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Article: Ophthalmic genetics/inherited eye disease.

Young, Terri L

Current opinion in ophthalmology

2003 Volume 14, Issue 5, Page(s) 296–303

Abstract: Purpose of review: Genetic diseases of the eye and involving the eye continue as a leading cause of blindness in children and adults.: Recent findings: Most genetic ocular disorders are not yet treatable and/or are without curative therapies because ... ...

Abstract	Purpose of review: Genetic diseases of the eye and involving the eye continue as a leading cause of blindness in children and adults. Recent findings: Most genetic ocular disorders are not yet treatable and/or are without curative therapies because of our limited understanding of pathogenesis, and the need for well-designed and fully implemented animal model or human clinical trial testing of therapeutic methods. Summary: Herein are current reviews of a variety of ophthalmologic genetic disorders such as anophthalmia, aniridia, albinism, anterior segment dysgenesis, Marfan syndrome, ectopia lentis, neurofibromatosis, retinal hemangioblastomas, and familial exudative vitreoretinopathy.
MeSH term(s)	Albinism/pathology ; Ectopia Lentis/diagnosis ; Ectopia Lentis/genetics ; Eye Abnormalities/pathology ; Eye Diseases, Hereditary/diagnosis ; Eye Diseases, Hereditary/genetics ; Eye Diseases, Hereditary/pathology ; Fibrillins ; Humans ; Marfan Syndrome/diagnosis ; Marfan Syndrome/genetics ; Microfilament Proteins/genetics ; Mutation ; Neurofibromatosis 1/diagnosis ; Neurofibromatosis 1/pathology ; Neurofibromatosis 2/diagnosis
Chemical Substances	Fibrillins ; Microfilament Proteins
Language	English
Publishing date	2003-12-08
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	1049383-9
ISSN	1531-7021 ; 1040-8738
ISSN (online)	1531-7021
ISSN	1040-8738
DOI	10.1097/00055735-200310000-00011
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