Heritability of Refractive Error and Ocular Biometrics: The Genes in Myopia (GEM) Twin Study

Dirani, Mohamed; Chamberlain, Matthew; Shekar, Sri N.; Islam, Amirul; Garoufalis, Pam; Chen, Christine Y.; Guymer, Robyn H.; Baird, Paul N.

doi:10.1167/iovs.06-0270

Cited by 175 publications

(154 citation statements)

References 22 publications

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“…The odds of a child becoming myopic rise with the number of myopic parents (7), and even the nonmyopic offspring of myopic parents have been shown to have longer eyes than nonmyopic children of nonmyopic parents (8). Twin studies add further support, indicating heritability values between 0.5 and 0.90 (9)(10)(11). Genome-wide association studies have identified putative gene loci on chromosomes 13q (12) and 15q (13,14), as well as genetic variants in CTNND2, as being associated with myopia (15).…”

Section: Introductionmentioning

confidence: 99%

SLITRK6 mutations cause myopia and deafness in humans and mice

Tekin¹,

Chioza²,

Matsumoto³

et al. 2013

J. Clin. Invest.

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Myopia is by far the most common human eye disorder that is known to have a clear, albeit poorly defined, heritable component. In this study, we describe an autosomal-recessive syndrome characterized by high myopia and sensorineural deafness. Our molecular investigation in 3 families led to the identification of 3 homozygous nonsense mutations (p.R181X, p.S297X, and p.Q414X) in SLIT and NTRK-like family, member 6 (SLITRK6), a leucine-rich repeat domain transmembrane protein. All 3 mutant SLITRK6 proteins displayed defective cell surface localization. High-resolution MRI of WT and Slitrk6-deficient mouse eyes revealed axial length increase in the mutant (the endophenotype of myopia). Additionally, mutant mice exhibited auditory function deficits that mirrored the human phenotype. Histological investigation of WT and Slitrk6-deficient mouse retinas in postnatal development indicated a delay in synaptogenesis in Slitrk6-deficient animals. Taken together, our results showed that SLITRK6 plays a crucial role in the development of normal hearing as well as vision in humans and in mice and that its disruption leads to a syndrome characterized by severe myopia and deafness.

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Section: Introductionmentioning

confidence: 99%

SLITRK6 mutations cause myopia and deafness in humans and mice

Tekin¹,

Chioza²,

Matsumoto³

et al. 2013

J. Clin. Invest.

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“…kırma kusuru ve oküler biyometrik ölçümlerin kalıtılabilirliğini ikizler üzerinde araştırmışlardır. 6 Çevresel faktörlerden çok genetik faktörlerin kırma kusuru değişimlerinde daha etkili olduğunu bulmuşlardır. Her iki olgumuzun da kayma açıları ve kırma kusuru ölçümlerinin benzer bulunması bu bulguyu desteklemektedir.…”

Section: Discussionunclassified

Cerebral Artery Aneurysm with Esotropia in One of Twin Sisters in Childhood: Case Report

Karslıoğlu¹,

Akbel²,

Atilla³

2016

Turkiye Klinikleri J Ophthalmol

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“…Pada keadaan astigmat lazim ini diperlukan lensa silinder negatif dengan sumbu 180 derajat untuk memperbaiki kelainan refraksi yang terjadi. 23,24 Pada usia pertengahan kornea menjadi lebih sferis kembali sehingga astigmat menjadi against the rule (astigmat tidak lazim), yang merupakan suatu keadaan kelainan refraksi dimana koreksi dengan silinder negatif dilakukan dengan sumbu tegak lurus (60-120 derajat) atau dengan silinder positif sumbu horizontal (30-150 derajat). Keadaan ini terjadi akibat kelengkungan kornea pada meridian horizontal lebih kuat dibandingkan kelengkungan kornea vertikal.…”

Section: Hipermetropiaunclassified

“…Namun tindakan ini tidak dapat menurunkan kondisi kebutaan yang di akibatkan karena pelepasan retina, degenerasi makular, dan glaukoma yang berhubungan dengan miopia tinggi. 20,23 …”

Section: 25unclassified

Penyimpangan Reflaksi Cahaya Dalam Mata Pada Anak Usia Sekolah

Saminan

2017

JKS

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Abstrak. Penyimpangan cahaya dalam mata sehingga cahaya tidak difokuskan pada retina atau bintik kuning, tetapi didepan atau dibelakang retina dan mungkin tidak terletak pada satu titik fokus. Dapat ditentukan oleh media penglihatan yaitu kornea, cairan mata, lensa, benda kaca, dan panjang bola mata. Kelainan refraksi kelompok usia sekolah mencapai 66 juta anak, jenis kelainanrefraksi miopia. Kelainan daya bias dapat dinetralkan dengan alat bantu berupa kaca mata.(JKS 2017; 3:184-189) Kata kunci: Refraksi, Cahaya, miopia.Abstrac.Light deviation in the eye to light is not focused on the retina or yellow spots, but in front or behind the retina and may not lie in a single focal point. Can be determined by the visual media of the cornea, eye fluids, lenses, glass objects, and the length of the eyeball. Refractive disorders of the school age group reached 66 million children, a type of myopia refractive disorder. Bias power abnormalities can be neutralized with aids in the form of glasses. (JKS 2017; 3:184-189)

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Heritability of Refractive Error and Ocular Biometrics: The Genes in Myopia (GEM) Twin Study

Cited by 175 publications

References 22 publications

SLITRK6 mutations cause myopia and deafness in humans and mice

SLITRK6 mutations cause myopia and deafness in humans and mice

Cerebral Artery Aneurysm with Esotropia in One of Twin Sisters in Childhood: Case Report

Penyimpangan Reflaksi Cahaya Dalam Mata Pada Anak Usia Sekolah

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