Abstract:
:Isolated congenital lens coloboma is a sectoral indentation of the crystalline lens due to zonular weakness or absence. The purpose of this report is to describe the association of lens coloboma with an adjacent cyst in the ciliary body and to suggest that ciliary body cysts may be an under-recognized cause of congenital lens coloboma.
journal_name
Ophthalmic Genetjournal_title
Ophthalmic geneticsauthors
Khan AO,Al-Assiri Adoi
10.1080/13816810701531260subject
Has Abstractpub_date
2007-12-01 00:00:00pages
208-9issue
4eissn
1381-6810issn
1744-5094pii
789001591journal_volume
28pub_type
杂志文章abstract::The PCR/restriction endonuclease digestion (RE) assay and PCR/SSCP analysis of the rhodopsin gene in 13 Japanese families with autosomal dominant retinitis pigmentosa (ad RP) revealed a G-A substitution of the first nucleotide of codon 181, replacing Glu (GAG) with Lys (AAG), in one family. The proband showed an early...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816819409098865
更新日期:1994-06-01 00:00:00
abstract:BACKGROUND:A number of mutations in the VSX1 and SOD1 genes have been reported to be associated with keratoconus (KC), however the results from different studies are controversial. In this study, we conducted the genotyping of common polymorphisms [VSX1: D144E, H244R, R166W, G160D; SOD1: intronic 7-base deletion (c.169...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2013.843712
更新日期:2015-01-01 00:00:00
abstract::Fundal opacities have been reported in patients with Gaucher disease, a rare autosomal recessive lysosomal storage disease, prior to the advent of optical coherent tomography. This report provides a detailed analysis of the fundal opacities in a 14-year-old girl with genetically proven Gaucher disease using spectral d...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2012.716489
更新日期:2012-12-01 00:00:00
abstract::Background: Retinitis punctate albescens (RPA) is a rare form of retinal dystrophy characterized by congenital stationary night blindness and a characteristic fundus appearance. Missense or nonsense mutations in RDH5 in homozygous or heterozygous state have been implicated in RPA.Material and methods: Two consanguineo...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2019.1709124
更新日期:2020-02-01 00:00:00
abstract::Background: The present study aims to identify the underlying genetic defects in a Chinese family with autosomal dominant congenital cataracts (ADCC). Methods: Detailed family histories and clinical data were recorded. Targeted exome sequencing of 54 known cataract-associated genes combined with high-throughput next-g...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2020.1855665
更新日期:2020-12-04 00:00:00
abstract:PURPOSE:In this study, we aimed to detect mutations in the SLC7A14 cationic transporter gene, which has recently been reported as a causative gene for retinitis pigmentosa (RP), in Japanese patients with autosomal recessive (AR) or sporadic RP. MATERIALS AND METHODS:We included 146 unrelated Japanese patients with AR ...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2015.1136336
更新日期:2017-01-01 00:00:00
abstract:PURPOSE:To perform genotype-phenotype correlations in a family with choroideremia. METHODS:A three-generation family with two affected males and five carriers was the subject of the study. Molecular genetic analysis using single-strand conformation polymorphism analysis (SSCP) was conducted in all subjects, while elec...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1076/opge.24.4.203.17232
更新日期:2003-12-01 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...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2018.1509351
更新日期:2018-10-01 00:00:00
abstract::Purpose: Congenital glaucoma (CG) results from poorly understood developmental abnormalities of the aqueous drainage structures and is clinically characterized by high intraocular pressure (IOP), epiphora, corneal oedema, photophobia, blepharospasm and ocular enlargement. To date, more than 50 pathogenic mutations in ...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2011.596891
更新日期:2011-08-04 00:00:00
abstract:BACKGROUND:Age-related macular degeneration is the leading cause of blindness in elderly individuals in developed countries. The etiology and pathophysiology of age-related macular degeneration have not been elucidated yet. Knowing that the main pathological change of age-related macular degeneration is formation of dr...
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
abstract:PURPOSE:Early-onset retinal dystrophy is usually isolated but can also be the presenting manifestation of an undiagnosed systemic disease. The purpose of this report is to highlight the initial presentation of a girl with early-onset retinal dystrophy and chronic dermatitis who was found to have an undiagnosed congenit...
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
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
abstract:BACKGROUND:Senior-Løken syndrome (SLS) is a rare autosomal recessive disease characterised by nephronophthisis and retinal degeneration, and belongs to a group of genetically heterogeneous disorders known as the ciliopathies. MATERIALS AND METHODS:Case report of a patient with genetically proven SLS presenting with h...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2020.1766086
更新日期:2020-08-01 00:00:00
abstract::One of the treatment options for intraocular retinoblastoma is thermochemotherapy with diode laser combined with chemotherapy. Very little is known about the evolution of laser scars resulting from diode laser treatment for retinoblastoma. We report a case of atrophic chorioretinal scar and focal scleral bowing after ...
journal_title:Ophthalmic genetics
pub_type: 信件
doi:10.1080/13816810500481907
更新日期:2006-03-01 00:00:00
abstract:BACKGROUND:MSX2 mutations are a very rare cause of craniosynostosis. Gain-of-function mutations may lead to the Boston-type craniosynostosis with limb defects and refraction errors, whereas loss-of-function mutations causes primary osseous defects such as enlarged parietal foramina. MATERIALS AND METHODS:Herein we rep...
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:OBJECTIVE:To describe the clinical and electrophysiological characterization of four family members from three generations who have X-linked infantile periodic alternating nystagmus (XIPAN). METHODS:Complete clinical ophthalmological evaluation, pedigree analysis, electroretinograms (ERG), eye movement recordings (EMR...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810590968014
更新日期:2005-06-01 00:00:00
abstract:PURPOSE:The associations between genetic variants located in CFH, CFB, ARMS2 and HTRA1 and the risk of age-related macular degeneration (AMD) in a northern Chinese population were investigated. METHODS:A case-control association study of 150 AMD patients and 145 ethnicity- and gender-matched controls were recruited. G...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2014.921314
更新日期:2014-09-01 00:00:00
abstract:BACKGROUND:Alström syndrome is a rare genetic ciliopathy caused by a mutation in the ALMS1 gene. The syndrome is characterized by cone-rod dystrophy, dilated myocardiopathy, childhood obesity and sensorineural hearing loss. To date, cystoid macular edema has not been reported. METHODS:A female affected by Alström synd...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2015.1094493
更新日期:2016-12-01 00:00:00
abstract::Retinitis Pigmentosa (RP) is a major cause of heritable human blindness with a high genetic heterogeneity. It is characterized by the initial degeneration of rod photoreceptors followed by cone photoreceptors. RP is also a prominent reason of visual impairment, by a global prevalence of 1:4000. RP is usually specified...
journal_title:Ophthalmic genetics
pub_type: 杂志文章,评审
doi:10.1080/13816810.2019.1675178
更新日期:2019-10-01 00:00:00
abstract:PURPOSE:To present a boy with unilateral duplication of the eye. METHOD:The case history is described from the first visit at birth to the age of 14 years. RESULTS:A review of the literature shows that this malformation is compatible with life although malformations of the brain and epilepsy have been reported in all...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810701209479
更新日期:2007-06-01 00:00:00
abstract:OBJECTIVE:To describe the clinical and pathological findings of two large mainland Chinese kindreds with vitreous amyloidosis and associated transthyretin mutation. METHODS:Twenty individuals from two kindreds with vitreous amyloidosis were ascertained. The transtheretin (TTR) gene of each individual was analyzed, and...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2011.599356
更新日期:2012-03-01 00:00:00
abstract:BACKGROUND:Functional polymorphisms in genes encoding antioxidant enzymes may result in reduced enzyme activity and increased levels of reactive oxygen species, such as superoxide radicals, which in turn may contribute to increased risk of age-related disorders. Copper-zinc superoxide dismutases, SOD-1 and SOD-3, and m...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2012.746377
更新日期:2013-09-01 00:00:00
abstract::We present the clinical and molecular genetic features of a large multi-generation Norwegian family with dominant cone-rod dystrophy. Ophthalmological evaluation including electroretinography showed cone dysfunction in younger patients, with rod dysfunction becoming apparent at more advanced stages of the disease. In ...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:
更新日期:2000-12-01 00:00:00
abstract::A three-generation family presenting with ocular developmental abnormalities, including anterior segment dysgenesis and coloboma, associated with brachydactyly and clinodactyly is presented. Several conditions incorporating ocular and bony limb abnormalities have been described. However, we believe that this family ma...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810490902684
更新日期:2004-12-01 00:00:00
abstract:PURPOSE:The hexokinase 1 (HK1) gene encodes one of the four human hexokinases that play essential roles in glucose metabolism. Recently, several cases of E847K mutation in the HK1 gene were reported to cause inherited retinal dystrophy. The purpose of this study was to identify the phenotypical characteristics of patie...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2020.1810284
更新日期:2020-12-01 00:00:00
abstract:PURPOSE:To determine the cause of Leber congenital amaurosis (LCA) in a consanguineous Emirati family. METHODS:The clinical diagnosis was made on the basis of medical history, ophthalmoscopy and standard ERG. The diagnosis was confirmed by molecular genetic analysis of known LCA genes by Next-Generation Sequencing (NG...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2012.755552
更新日期:2013-12-01 00:00:00
abstract::Mutations in sequestosome 1 (SQSTM1) gene are associated with neurodegenerative diseases, such as frontotemporal dementia and amyotrophic lateral sclerosis. Recently, mutation in SQSTM1 was also found to cause a progressive childhood-onset cerebellar ataxia. We describe here a case of progressive childhood-onset cereb...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2019.1666414
更新日期:2019-08-01 00:00:00
abstract::A new syndrome with abnormalities along the first branchial arch and the milk list is described in a family of four affected generations. The characteristics of the syndrome are epibulbar lipodermoids, preauricular appendages and polythelia. The expressivity varies but all affected have supernumerary nipples and preau...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816811003767136
更新日期:2010-06-01 00:00:00
abstract::Patients with a deletion at the terminal end of chromosome 6p can present with a variety of ophthalmological and systemic malformations. In this paper we present two patients with this chromosomal anomaly and similar anterior eye-segment abnormalities. We also give an overview of the literature on the ophthalmological...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2015.1010735
更新日期:2015-06-01 00:00:00
abstract::Purposes: To describe the long-term follow-up of a patient affected by Pseudoxanthoma Elasticum (PXE) and acquired macular vitelliform lesions in both eyes. Material and methods: Case report Results: We reported the 9-year follow-up of a patient affected by PXE. We described the onset and the resolution of the vitelli...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2019.1666882
更新日期:2019-08-01 00:00:00