Abstract:
:A considerable volume of literature has been published on the association of lacrimal outflow dysgenesis with developmental anomalies or systemic syndromes. We report three affected individuals in a consanguineous family those are associated with bilateral ptosis, upper ocular movement limitation, and absence of the lacrimal punctum. T our knowledge, this is the first article reporting the association of bilateral ptosis, facial dysmorphism, upper ocular movement limitation, and absence of the lacrimal punctum in a hereditary form. As a sole example, these findings may be accepted as a new syndrome with autosomal recessive pattern because of consanguinity.
journal_name
Ophthalmic Genetjournal_title
Ophthalmic geneticsauthors
Guran S,Torun D,Mutlu FM,Uysal Y,Ugurel MS,Bahce Mdoi
10.1080/13816810902988772subject
Has Abstractpub_date
2009-09-01 00:00:00pages
146-51issue
3eissn
1381-6810issn
1744-5094journal_volume
30pub_type
杂志文章abstract::Etiological investigation of a 15-year-old boy with left ophthalmic artery occlusion led us to a diagnosis of neurofibromatosis type I as there were numerous large cafe-au-lait spots, axillary freckling, and brain MRI changes consistent with a hamartoma. In light of the present case, ophthalmic artery occlusion may be...
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更新日期:1998-06-01 00:00:00
abstract:PURPOSE:to report phenotypic and genotypic features in a group of autosomal recessive retinitis pigmentosa (arRP) patients associated with EYS mutations. METHODS:we retrospectively reviewed the clinical records and the molecular genetic data of arRP patients carrying mutations in the EYS gene. All the patients underwe...
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pub_type: 杂志文章
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pub_type: 杂志文章
doi:10.3109/13816810.2013.789535
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abstract::Usher syndrome has classically been described as a combination of hearing loss and rod-cone dystrophy; vestibular dysfunction is present in many patients. Three distinct clinical subtypes were documented in the late 1970s. Genotyping efforts have led to the identification of several genes associated with the disease. ...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
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abstract:BACKGROUND:Glaucoma is considered as a neurodegenerative disorder in which the optic nerve damage leads to irreversible blindness. Many scientific findings indicate miRNA implication in the neurodegeneration process. In this study, we aimed to evaluate the polymorphic variants of miRNA processing genes, RAN (rs14035) a...
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
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更新日期:2020-12-04 00:00:00
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journal_title:Ophthalmic genetics
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journal_title:Ophthalmic genetics
pub_type: 信件
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
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更新日期:1999-12-01 00:00:00
abstract:PURPOSE:Genetic factors are shown to have a role in the development of primary open-angle glaucoma (POAG). The aim of this study was to determine the effects of genetic polymorphisms of Rho-kinase (ROCK) genes on the risk of POAG in a Turkish population. METHODS:Genomic DNA was extracted from leukocytes of the periphe...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2014.895016
更新日期:2016-01-01 00:00:00
abstract::DNA samples are the fundamental research substrate in genetics. Although methodology and cost-effectiveness in molecular biology have improved dramatically, collecting biological samples and extracting DNA continue to be expensive and time-consuming steps of genetic research. This article reviews the issues surroundin...
journal_title:Ophthalmic genetics
pub_type: 杂志文章,评审
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更新日期:2001-03-01 00:00:00
abstract:BACKGROUND:Wildervanck Syndrome (WS; cervico-oculo-acoustic syndrome) consists of Duane retraction syndrome (DRS), the Klippel-Feil anomaly, and congenital deafness. It is much more common in females than males and could be due to an X-linked mutation that is lethal to hemizygous males. We present the genetic evaluatio...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2013.766218
更新日期:2014-03-01 00:00:00
abstract::Background: Syndromic ciliopathies have been variably linked to different retinal dystrophies. However, to date, few reports have characterized by means of multimodal imaging the retinal degeneration occurring in Mainzer-Saldino syndrome (MSS). Methods: Two siblings with history of kidney disease and other systemic ab...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2020.1867755
更新日期:2021-01-03 00:00:00
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pub_type: 杂志文章
doi:10.3109/13816810.2010.536064
更新日期:2011-06-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810590968014
更新日期:2005-06-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2018.1498529
更新日期:2018-10-01 00:00:00
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doi:10.1080/13816810.2020.1755989
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2014.886270
更新日期:2015-01-01 00:00:00
abstract::Twenty-one probands, twelve with bilateral and nine with unilateral retinoblastoma, were screened for mutations in the RB1 gene using genomic DNA from peripheral blood leukocytes as well as tumors. Amplification of individual exons and flanking regions of the RB1 gene were carried out, followed by direct sequencing of...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
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更新日期:2002-06-01 00:00:00
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pub_type: 杂志文章
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更新日期:2010-09-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810500374557
更新日期:2005-12-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1076/opge.19.3.149.2186
更新日期:1998-09-01 00:00:00
abstract::Background Microcephaly and chorioretinopathy (MCCRP) is a rare neuro-ophthalmologic disorder that causes microcephaly and chorioretinopathy. In a recessive inheritance pattern, there are three types: MCCRP1; MCCRP2 and MCCRP3. MCCRP3 results from pathogenic variants in the tubulin-gamma complex-associated protein 4 (...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2020.1747084
更新日期:2020-04-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
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更新日期:2009-03-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2016.1242018
更新日期:2017-07-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810600976822
更新日期:2006-12-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
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更新日期:2017-12-01 00:00:00