Abstract:
:This review will cover the state of the field in retinal degeneration and gene therapy with a focus on the great strides that have been made in retina gene therapy. Topics ranging from the development of animal models to clinical trials (for the treatment of Leber congenital amaurosis, age-related macular degeneration, and retinoblastoma) will be discussed. In addition, the results of gene therapy studies targeting the photoreceptors will be presented. Finally, strategies and progress in overcoming the challenges of photoreceptor-directed gene therapy will be presented.
journal_name
Ophthalmic Genetjournal_title
Ophthalmic geneticsauthors
Rex TSdoi
10.1080/13816810701503707subject
Has Abstractpub_date
2007-09-01 00:00:00pages
127-33issue
3eissn
1381-6810issn
1744-5094pii
782465485journal_volume
28pub_type
杂志文章,评审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:To report two memorable clinical comorbid cases of Williams-Beuren syndrome (WBS) associated with keratoconus (KC). WBS is known to be an abnormal systemic development caused by a microdeletion of contiguous genes in chromosome 7q11.23, which includes the elastin gene. KC is currently suspected to have a geneti...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2010.523038
更新日期:2010-12-01 00:00:00
abstract::The identification by fundus examination of those females carrying an X-linked retinitis pigmentosa (RP) gene can reportedly be as high as 87%. In genetic counselling sessions with young females with a 50% risk of being a carrier who wished to know their status, it has not been possible to achieve such a level of succ...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816819509059970
更新日期:1995-09-01 00:00:00
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...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1076/opge.19.2.87.2322
更新日期:1998-06-01 00:00:00
abstract:BACKGROUND:Posterior column ataxia retinitis pigmentosa (PCARP) with feline leukemia virus subgroup C cellular receptor 1 (FLVCR1) gene mutation is a rare disorder with significant ophthalmic features. MATERIALS AND METHODS:We conducted a retrospective case series study of patients diagnosed with PCARP and genetic tes...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2018.1547913
更新日期:2018-12-01 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:BACKGROUND:Microphthalmia, anophthalmia, coloboma (MAC) complex is a spectrum of ocular abnormalities that occur in isolation or as part of a syndrome. Genetic abnormalities have been shown to account for 80% of cases in bilateral anophthalmia or severe microphthalmia, where 25-30% were attributed to chromosomal defect...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2020.1776338
更新日期:2020-08-01 00:00:00
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
doi:10.1080/13816810.2020.1747090
更新日期:2020-10-01 00:00:00
abstract:BACKGROUND:Wagner vitreoretinopathy (WVR) is a rare non-syndromic autosomal dominant inherited vitreoretinopathy. We studied the phenotypes of two Chinese families with WVR and identified the pathogenic variants. MATERIALS AND METHODS:Four affected individuals were involved in this study. Three of them underwent detai...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2020.1786843
更新日期:2020-10-01 00:00:00
abstract:PURPOSE:To describe bilateral vitreous opacities and maculopathy in a child with Hunter syndrome. METHODS:A case involving fundus examination, photography, and optical coherence tomography. Medline and Embase searches found no reference to vitreous or macular abnormalities in Hunter syndrome. RESULTS:A two-year-old b...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810600677966
更新日期:2006-06-01 00:00:00
abstract::The autoinflammatory syndromes are rare inherited disorders characterized by recurrent attacks of multi-system inflammation caused by genetic mutations that result in abnormal upregulation of key innate immune mediators. The term autoinflammatory syndromes includes a broad variety of disorders, including cryopyrin-ass...
journal_title:Ophthalmic genetics
pub_type: 杂志文章,评审
doi:10.3109/13816810.2012.695421
更新日期:2012-12-01 00:00:00
abstract::We present six patients with typical Hallermann-Streiff syndrome. All have microphthalmia and were operated for congenital cataract. Three of the patients developed a severe glaucoma and one patient presented repeated uveal effusions. Five of our patients have the same pattern of corneal stromal opacities. The opaciti...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810802027101
更新日期:2008-06-01 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:BACKGROUND:H syndrome is an autosomal recessive histiocytosis with multisystemic involvement caused by mutations in the SLC29A3 gene. The term H syndrome was coined to denote the major clinical findings which include hyperpigmentation, hypertrichosis, hearing loss, hepatosplenomegaly, hypogonadism, hyperglycemia/diabet...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2014.886272
更新日期:2015-01-01 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::Several forms of autosomal dominant retinitis pigmentosa (adRP) are caused by mutations in genes encoding proteins that are ubiquitously expressed and involved in the pre-mRNA spliceosome such as PRPF31. This paper provides an overview of the molecular genetics, pathophysiology, and mechanism for incomplete penetrance...
journal_title:Ophthalmic genetics
pub_type: 杂志文章,评审
doi:10.3109/13816810.2012.762932
更新日期:2013-12-01 00:00:00
abstract::Ligneous conjunctivitis is an uncommon and recurrent type of chronic conjunctivitis. A prevalent cause of this disease is a Plasminogen deficiency, resulting from recessive mutations in the human encoding plasminogen (PLG) gene. This deficiency affects the conjunctiva and also other mucous membranes. Only few hundred ...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2018.1502791
更新日期:2018-10-01 00:00:00
abstract:BACKGROUND:Although the pathogenicity of the prominin-1 (PROM1) gene has already been described as associated with autosomal dominant Stargardt disease, little is known about sequence variations in this gene. PURPOSE:The aim of this study was to evaluate PROM1 gene sequence variations in patients with macular dystroph...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2016.1275022
更新日期:2017-01-01 00:00:00
abstract::Aicardi syndrome was originally described as a triad of partial or complete agenesis of the corpus callosum, infantile spasms, and pathognomic chorioretinal lacunae. Of approximately 200 cases reported since it was originally described in 1965, there have been no undisputed reports of Aicardi syndrome in a 46 XY male....
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810802320209
更新日期:2008-12-01 00:00:00
abstract:PURPOSE:Glaucoma is the second leading cause of blindness. In India, approximately 1.5 million people are blind due to glaucoma. Mutations in the MYOC gene located at the GLC1A locus on chromosome 1q21-q31 have been found in patients with juvenile-onset primary open-angle glaucoma (J-POAG). The purpose of the present s...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1076/opge.25.1.11.28995
更新日期:2004-03-01 00:00:00
abstract:BACKGROUND:A Chinese family with X-linked juvenile retinoschisis (XLRS) was identified. The purpose of this study was to identify genetic defects in this family and to investigate the visual function during the progression of the disease in the proband from childhood to adulthood. METHODS:The family history was collec...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2011.628359
更新日期:2012-06-01 00:00:00
abstract:OBJECTIVE:To characterize visual function in defined genotypes including siblings with Usher syndrome. METHODS:Thirteen patients with phenotypically different subtypes of Usher syndrome, including 3 families with affected siblings, were selected. Genetic analysis and ophthalmological examinations including visual fiel...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2010.536064
更新日期:2011-06-01 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:PURPOSE:To characterize the phenotype of two families with high hypermetropia from the Faroe Islands. METHODS:Ophthalmologic evaluation including ultrasound oculometry and anthropometric measurements. RESULTS:Of the 40 examined family members, 15 individuals (8 males, 7 females; ages: 6-77 years; mean: 36.5 years) ha...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810590918406
更新日期:2005-03-01 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:BACKGROUND:We estimated the incidence and prevalence of diagnosed cataracts among patients with cystic fibrosis (CF) versus the general population (GP). METHODS:Using a large US health insurance claims database, we identified a CF cohort and a GP cohort matched with respect to age, gender, and calendar year. The preva...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2017.1301964
更新日期:2017-12-01 00:00:00
abstract:PURPOSE:The crystallin family of proteins comprise the main structural proteins of the vertebrate lens and have been classified into alpha-, beta-, and gamma- families. Several of the beta-crystallin proteins have been detected in the retina where they are each localized to different compartments of rod and cone photor...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2010.486774
更新日期:2010-09-01 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: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