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 thermochemotherapy with diode laser for retinoblastoma.
journal_name
Ophthalmic Genetjournal_title
Ophthalmic geneticsauthors
de Graaf P,Castelijns JA,Moll AC,Imhof SM,Schouten-van Meeteren AYdoi
10.1080/13816810500481907subject
Has Abstractpub_date
2006-03-01 00:00:00pages
33-5issue
1eissn
1381-6810issn
1744-5094pii
W5003Q3385M86121journal_volume
27pub_type
信件abstract:BACKGROUND:Diabetic retinopathy (DR) is a severe complication of diabetes and a common cause of visual loss in adults. We aimed to assess the correlation between IL gene-related SNPs and the incidence of DR and attempted to predict DR with combined mutation site detection. METHODS:A systematic search of databases was ...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2020.1747091
更新日期:2020-06-01 00:00:00
abstract:PURPOSE:To describe and compare ocular findings in patients with Hermansky-Pudlak syndrome (HPS) type 1 and 3. METHODS:This is a retrospective case series of 64 patients with HPS from 1999 to 2009 evaluated at an outpatient private ophthalmologic clinic. Patients underwent genetic analysis of selected albinism (Tyrosi...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2014.907920
更新日期:2016-01-01 00:00:00
abstract:PURPOSE:To describe the clinical phenotype in a family with Best's vitelliform macular dystrophy (BMD) and a new mutation (Val89Ala) in the VMD2 gene. METHODS:The genotype was determined by direct sequence analysis of the individual exons of VMD2. Nine members of a family with BMD were examined. The examination includ...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1076/opge.22.2.107.2226
更新日期:2001-06-01 00:00:00
abstract::Angioid streaks were observed in two patients with abetalipoproteinemia. The progression of the angioid streaks was minimal over the years that these patients received vitamin A and E supplementation, though in one patient the development of subretinal neovascular membranes within the angioid streaks was the cause of ...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816819409057843
更新日期:1994-09-01 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:Axenfeld-Rieger syndrome is characterized by a spectrum of anterior segment dysgenesis involving neural-crest-derived tissues, most commonly secondary to mutations in the transcription factor genes PITX2 and FOXC1. MATERIALS AND METHODS:Single retrospective case report. RESULTS:A full-term infant presented...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2020.1768556
更新日期:2020-08-01 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::Background: Chromosomal deletion involving the 6p25 region results in a clinically recognizable syndrome characterized by anterior eye chamber anomalies with risk of glaucoma and non-ocular malformations (6p25 deletion syndrome). We report a newborn infant case of childhood glaucoma with a combination of partial monos...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2020.1744019
更新日期:2020-04-01 00:00:00
abstract:BACKGROUND:Cilioretinal arteries (CAs) represent enlargements of microscopic and early established collaterals formed via vasculogenesis between choroidal and retinal circulations. We aimed to investigate whether genetic tendency to thrombosis due to well-known gene polymorphisms may induce CA vasculogenesis in embryon...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2016.1253104
更新日期:2017-09-01 00:00:00
abstract::Because mutations in the peripherin/RDS gene have been found in retinal dystrophies involving the macula, we examined various types of macular dystrophies from southern France to characterize sequence variations that may be associated with these conditions. DNA sequence analysis of the full coding and flanking regions...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816819709057126
更新日期:1997-09-01 00:00:00
abstract:PURPOSE:To clinically characterize a Swedish family with autosomal dominant retinitis pigmentosa due to a mutation, Arg-172-Trp, in the peripherin/RDS gene. METHODS:Full clinical evaluation including kinetic visual field testing, measurement of dark-adaptation threshold, and full-field electroretinography in seven pat...
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: 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:Nuclear hormone receptor gene, NR2E3, plays a critical role in retinogenesis and determination of the rod photoreceptor phenotype. Mutations in NR2E3 typically lead to recessive enhanced S-cone syndrome (ESCS), where affected individuals show higher sensitivity to short wavelength light and early onset rod d...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2018.1547912
更新日期:2019-02-01 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:BACKGROUND:SPATA7 mutations have been associated with different autosomal recessive retinal degeneration phenotypes. Long-term follow-up has not been described in detail. MATERIALS AND METHODS:A Hispanic patient with SPATA7 mutations was evaluated serially over a 12-year period with kinetic and static chromatic perime...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2015.1130154
更新日期:2016-09-01 00:00:00
abstract:BACKGROUND:The use of intravitreal triamcinolone acetonide (IVTA) can cause ocular hypertension. This steroid response appears to be heritable and alleles in the SFRS3 and FKBP4 genes have recently been suggested to play a role. The purpose of the present study was to perform an independent replication study to determi...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2012.716488
更新日期:2012-12-01 00:00:00
abstract::Background: The extensive phenotypic heterogeneity of monogenic diseases can be largely traced to intragenic variation; however, recent advances in clinical detection and gene sequencing have uncovered the emerging role of non-allelic variation (i.e. genetic trans-modifiers) in shaping disease phenotypes. Identifying ...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2019.1660382
更新日期:2019-08-01 00:00:00
abstract::Background: Hydroxychloroquine retinal toxicity can occur in up to 7.5% of patients receiving treatment; however, possible genetic risk factors are poorly understood. The main objective of the study was to explore candidate genetic risk factors for retinal toxicity.Materials and Methods: Case-control study of patients...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2020.1747093
更新日期:2020-04-01 00:00:00
abstract:PURPOSE:The age-related maculopathy susceptibility2 (ARMS2)/LOC387715 A69S (rs10490924) polymorphism and cigarette smoking have been shown to have significant association with AMD. In this meta-analysis we used the results of available association studies of combined ARMS2/LOC387715 genotypes and cigarette smoking with...
journal_title:Ophthalmic genetics
pub_type: 杂志文章,meta分析,评审
doi:10.1080/13816810.2016.1237664
更新日期:2017-07-01 00:00:00
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 l...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810902988772
更新日期:2009-09-01 00:00:00
abstract::Background: Inherited retinal dystrophies are a leading cause of irreversible blindness in children in the United States. Topical carbonic anhydrase inhibitors have improved central vision and cystoid macular edema in patients with retinal dystrophies, but few studies have assessed their efficacy in children. Material...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2019.1660381
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:PURPOSE:To identify the mutation in the RB1 gene in a Syrian family showing incomplete penetrance of retinoblastoma (RB). METHODS:Genomic DNA was used as a template for the PCR reaction to amplify all exons as well as the promoter region of RB1 gene. These PCR products were screened by conformational sensitive gel ele...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1076/opge.20.4.225.2269
更新日期:1999-12-01 00:00:00
abstract::A 6-month-old boy presented with a congenital eye movement disorder consistent with congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Mutational analysis confirmed the most common mutation in the CFEOM1 gene KIF21A. In addition to the typical findings in CFEOM1, distinctive conjunctival changes and small...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810802697473
更新日期:2009-06-01 00:00:00
abstract:BACKGROUND:Fuchs' endothelial corneal dystrophy (FECD) is a complex degenerative disease of the corneal endothelium with genetic predisposition. Pathogenic rare variants have been identified in SLC4A11, LOXHD1, ZEB1, and AGBL1. Association of single nucleotide polymorphisms (SNPs) and CTG trinucleotide repeat expansion...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2018.1474367
更新日期:2018-08-01 00:00:00
abstract:INTRODUCTION:Branchio-Oculo-Facial Syndrome (BOFS) is a rare autosomal dominant congenital disorder defined by branchial defects, ocular anomalies and craniofacial malformations, including variable degrees of cleft lip with or without cleft palate. In addition, temporal bone anomalies, renal and ectodermal manifestatio...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2011.592176
更新日期:2011-11-01 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:BACKGROUND:Mutation in eye developmental genes has been reported to cause anophthalmia and microphthalmia. However, in India, especially in the Western Indian population, such reports are scarce. Hence, the present study aims to investigate mutations in 15 ocular developmental genes in patients with anophthalmia and mi...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2018.1436184
更新日期:2018-06-01 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
abstract::When encountering patients with markedly dilated and tortuous retinal vessels, Wyburn-Mason syndrome (WMS) or racemous angiomatosis (phacomatosis) is commonly thought of as the archetypal entity that can produce these findings. We describe a patient with Cantu syndrome with phenotypical findings identical to those see...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2019.1666415
更新日期:2019-10-01 00:00:00