1,168 results match your criteria Ophthalmic Genetics [Journal]


Protective association of A-T-T haplotype of DMT1 gene against risk of human age-related nuclear cataract.

Ophthalmic Genet 2019 Mar 14:0-11. Epub 2019 Mar 14.

c Department of Cataract and Refractive Surgery , Raghudeep Eye Hospital , Ahmedabad , India.

Background: Age-related cataract (ARC) is profoundly associated with oxidative stress. Iron plays a pivotal role in generating oxidative stress and promoting deleterious irreversible damage to the macromolecules. Divalent metal transporter 1 (DMT1) mediates the uptake of iron into the cell. Read More

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http://dx.doi.org/10.1080/13816810.2019.1582068DOI Listing

A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy.

Ophthalmic Genet 2019 Mar 14:1-8. Epub 2019 Mar 14.

e Caja Costarricense del Seguro Social.

Background: Leber congenital amaurosis (LCA) and early-onset retinal dystrophy (EORD), are primary causes of inherited childhood blindness. Both are autosomal recessive diseases, with mutations in more than 25 genes explaining approximately ~70% of cases. However, the genetic cause for many cases remains unclear. Read More

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http://dx.doi.org/10.1080/13816810.2019.1582069DOI Listing

Clinical features and possible founder mutation of the 8bp duplication mutation in the SLC4A11 gene causing corneal dystrophy and perceptive deafness in three South American families.

Ophthalmic Genet 2019 Mar 11:1-8. Epub 2019 Mar 11.

c Programa de Genética Humana, ICBM, Facultad de Medicina , Universidad de Chile , Santiago , Chile.

Background: Corneal Dystrophy and Perceptive Deafness (CDPD) or Harboyan syndrome is an autosomal recessive rare disorder, characterized by congenital corneal opacities and progressive sensorineural hearing loss, which usually begins after the second decades of life. This study reports the ophthalmic, audiological and genetic features, in five CDPD affected patients from three Chilean families.

Materials And Methods: Five individuals affected with CDPD from three unrelated Chilean families were clinically and genetically examined. Read More

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http://dx.doi.org/10.1080/13816810.2019.1571615DOI Listing

Recessive pediatric-onset cone-rod dysfunction or dominant maculopathy in a consanguineous family harboring the peripherin mutation p.Arg220Gln.

Authors:
Arif O Khan

Ophthalmic Genet 2019 Feb;40(1):60-63

a Eye Institute , Cleveland Clinic Abu Dhabi , Abu Dhabi , United Arab Emirates.

Purpose: Heterozygous peripherin mutation is associated with a wide range of typically adult-onset retinal phenotypes which can include asymptomatic maculopathy. There are few reports of biallelic peripherin mutations, only one of which detailed the ophthalmic phenotype. This report documents the retinal phenotype associated with homozygosity for a known peripherin mutation (c. Read More

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http://dx.doi.org/10.1080/13816810.2019.1579346DOI Listing
February 2019

Ophthalmologic findings in the Cornelia de Lange syndrome.

Ophthalmic Genet 2019 Feb 15;40(1):1-6. Epub 2019 Feb 15.

a Sidney Kimmel Medical College , Thomas Jefferson University , Philadelphia , Pennsylvania , USA.

Background: Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by multisystem abnormalities, including distinct ophthalmologic findings. In recent years, advances in molecular genetics have begun to provide new insight into the characterization of these clinical features and the genetic basis of the syndrome.

Materials And Methods: We included 37 articles that were identified through an electronic search in PubMed and through the reference lists of previously conducted reviews. Read More

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https://www.tandfonline.com/doi/full/10.1080/13816810.2019.1
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http://dx.doi.org/10.1080/13816810.2019.1571617DOI Listing
February 2019
13 Reads

Novel ocular findings in oculodentodigital dysplasia (ODDD): a case report and literature review.

Ophthalmic Genet 2019 Feb 15;40(1):54-59. Epub 2019 Feb 15.

a State Key Laboratory of Ophthalmology , Zhongshan Ophthalmic Center, Sun Yat-Sen University , Guangzhou , Guangdong , China.

Background: Oculodentodigitaldysplasia (ODDD; MIM no. 164200) is a rare hereditary disorder caused by mutations in the gene GJA1.Ocular disorders included microcornea, cornea opacity and glaucoma. Read More

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http://dx.doi.org/10.1080/13816810.2019.1571616DOI Listing
February 2019

Macular degeneration as a common cause of visual loss in spinocerebellar ataxia type 1 (SCA1) patients.

Ophthalmic Genet 2019 Feb 7;40(1):49-53. Epub 2019 Feb 7.

d Division of Clinical Cell Therapy, Center for Translational and Advanced Animal Research , Tohoku University Graduate School of Medicine , Sendai , Japan.

Background: Spinocerebellar ataxia type 1 (SCA1) caused by pathogenic CAG repeat expansion in the ATXN1 is characterized by loss of vision with little fundus abnormalities in some patients. Recently, macular degeneration has been reported to account for the visual symptoms in sporadic cases.

Materials And Methods: Five consecutive patients diagnosed as SCA1 with supporting genetical evidence were newly referred to ophthalmology department from neurology unit. Read More

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http://dx.doi.org/10.1080/13816810.2019.1571614DOI Listing
February 2019

Polymorphism rs7961953 in TMTC2 gene is not associated with primary open-angle glaucoma in a Saudi cohort.

Ophthalmic Genet 2019 Feb 7;40(1):74-76. Epub 2019 Feb 7.

a Department of Ophthalmology, Glaucoma Research Chair, College of Medicine , King Saud University , Riyadh , Saudi Arabia.

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http://dx.doi.org/10.1080/13816810.2019.1576210DOI Listing
February 2019
1 Read
1.233 Impact Factor

Enhanced expression of son of sevenless homolog 1 is predictive of poor prognosis in uveal malignant melanoma patients.

Ophthalmic Genet 2019 Feb 4;40(1):22-28. Epub 2019 Feb 4.

a Department of Ophthalmology , Daqing Oilfield General Hospital , Daqing , Heilongjiang Province , China.

Purpose: The work outlined herein investigated the prognosis value and the potential role son of sevenless homolog 1 (SOS1) played in uveal melanoma (UM).

Methods: We analyzed the mRNA expression level of SOS1 in primary UM cells based on the GSE44295 dataset obtained from the Gene Expression Omnibus (GEO, http://www.ncbi. Read More

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http://dx.doi.org/10.1080/13816810.2019.1573904DOI Listing
February 2019

Unilateral retinoblastoma in a patient with Hermansky-Pudlak syndrome.

Ophthalmic Genet 2019 Feb 4;40(1):83-85. Epub 2019 Feb 4.

b Hamilton Eye Institute, Department of Ophthalmology , University of Tennessee , Memphis , TN , USA.

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http://dx.doi.org/10.1080/13816810.2019.1571618DOI Listing
February 2019

Comment: Novel mutations in the OPN1LW and NR2R3 genes in a patient with blue cone monochromacy.

Authors:
Pascal Escher

Ophthalmic Genet 2019 Feb 1. Epub 2019 Feb 1.

a Department of Ophthalmology, Inselspital , University Hospital of Bern , Bern , Switzerland.

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https://www.tandfonline.com/doi/full/10.1080/13816810.2019.1
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http://dx.doi.org/10.1080/13816810.2019.1573908DOI Listing
February 2019
4 Reads

Comment: A novel missense mutation in BEST1 associated with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype.

Authors:
Nicole Weisschuh

Ophthalmic Genet 2019 Feb 11;40(1):87. Epub 2019 Jan 11.

a Institute for Ophthalmic Research Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1080/13816810.2018.1558263DOI Listing
February 2019

Novel mutations in the OPN1LW and NR2R3 genes in a patient with blue cone monochromacy.

Ophthalmic Genet 2019 Feb 7;40(1):43-48. Epub 2019 Jan 7.

a Eye Institute and School of Optometry and Ophthalmology , Tianjin Medical University Eye Hospital , Tianjin , China.

Background: To clarify the diagnosis of a Chinese patient with novel double heterozygous in the NR2E3 and OPN1LW genes and describe the clinical features.

Materials And Methods: A 47-year-old man presented with an 8-year history of decreased vision and poor night vision. Based on his clinical phenotype, we focused on 36 genes associated with these characteristics. Read More

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http://dx.doi.org/10.1080/13816810.2018.1561902DOI Listing
February 2019
6 Reads

Further phenotypic characterization of LEPREL1-related ectopia lentis.

Authors:
Arif O Khan

Ophthalmic Genet 2019 Feb 4;40(1):80-82. Epub 2019 Jan 4.

a Eye Institute , Cleveland Clinic Abu Dhabi , Abu Dhabi , United Arab Emirates.

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http://dx.doi.org/10.1080/13816810.2018.1563618DOI Listing
February 2019

Overlapping retinal phenotypes in a consanguineous family harboring mutations in CRB1 and RS1.

Ophthalmic Genet 2019 Feb 4;40(1):17-21. Epub 2019 Jan 4.

a Eye Institute, Cleveland Clinic Abu Dhabi , Abu Dhabi , United Arab Emirates.

Purpose: To describe and distinguish overlapping retinal phenotypes in a consanguineous family harboring mutations in CRB1 and RS1, two different genes that are associated with splitting of the central neurosensory retina.

Methods: Retrospective case series.

Results: Three siblings and their father had decreased vision from early childhood, but the father was unavailable for clinical examination. Read More

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http://dx.doi.org/10.1080/13816810.2018.1561906DOI Listing
February 2019
2 Reads

Late diagnosis of Alstrom syndrome in a Yemenite-Jewish child.

Ophthalmic Genet 2019 Feb 2;40(1):7-11. Epub 2019 Jan 2.

a The Krieger Eye Research Laboratory , Felsenstein Medical Research Center , Petach Tikva , Israel.

Background: We describe the ophthalmologic, clinical, and genetic findings in a patient of Yemenite-Jewish origin diagnosed with Alstrom syndrome due to a novel splice-site mutation 10 years after a clinical misdiagnosis of Leber congenital amaurosis.

Methods: Ophthalmological evaluations included visual acuity, cycloplegic refraction, slit-lamp, and optical coherent tomography. Genetic analyses included whole exome sequencing followed by bioinformatics analysis and segregation analysis. Read More

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https://www.tandfonline.com/doi/full/10.1080/13816810.2018.1
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http://dx.doi.org/10.1080/13816810.2018.1561900DOI Listing
February 2019
2 Reads
1.233 Impact Factor

Loss of ciliary zonule protein hydroxylation and lens stability as a predicted consequence of biallelic ASPH variation.

Ophthalmic Genet 2019 Feb 2;40(1):12-16. Epub 2019 Jan 2.

a Department of Ophthalmology , Flinders University, Flinders Medical Centre , Adelaide , Australia.

Purpose: Stability of the crystalline lens requires formation of microfibril bundles and their higher-order structures of ciliary zonules. Trauma, malformation, or degeneration of the ciliary zonules can lead to dislocation or displacement of the lens, which in turn can cause transient or permanent loss of visual acuity. The purpose of this study was to identify the predicted substrates of aspartyl/asparaginyl hydroxylase (ASPH), a 2-oxoglutarate- and Fe-dependent hydroxylase, which may account for the lens instability phenotype of ASPH-associated syndromes. Read More

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http://dx.doi.org/10.1080/13816810.2018.1561904DOI Listing
February 2019
2 Reads

Extreme myopia in a family with a missense PAX6 mutation: extended phenotype.

Ophthalmic Genet 2019 Feb 28;40(1):64-65. Epub 2018 Dec 28.

a Exploration of Vision and Neuro-ophthalmology Department , Lille University Hospital , Lille , France.

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https://www.tandfonline.com/doi/full/10.1080/13816810.2018.1
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http://dx.doi.org/10.1080/13816810.2018.1558260DOI Listing
February 2019
12 Reads

Bull's eye maculopathy caused by a novel IMPG-1 mutation.

Ophthalmic Genet 2019 Feb 27;40(1):71-73. Epub 2018 Dec 27.

a Servicio de Oftalmología , Hospital Universitario Virgen de la Victoria , Málaga , Spain.

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http://dx.doi.org/10.1080/13816810.2018.1561903DOI Listing
February 2019
1 Read

Early posterior vitreous detachment is associated with LAMA5 dominant mutation.

Ophthalmic Genet 2019 Feb 27;40(1):39-42. Epub 2018 Dec 27.

a Neurology Clinic II, Department of Medical Sciences, Surgery, Neurology, Metabolic Diseases and Geriatrics , University of Campania Luigi Vanvitelli , Naples , Italy.

Background: Extracellular matrix molecular components, previously linked to multisystem syndromes include collagens, fibrillins and laminins. Recently, we described a novel multisystem syndrome caused by the c.9418G>A p. Read More

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https://www.tandfonline.com/doi/full/10.1080/13816810.2018.1
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http://dx.doi.org/10.1080/13816810.2018.1558261DOI Listing
February 2019
7 Reads
1.233 Impact Factor

Retinal venous tortuosity in a woman hemizygous for MBTPS2 mutation.

Ophthalmic Genet 2019 Feb 27;40(1):69-70. Epub 2018 Dec 27.

c Sheikh Khalifa Medical City , Abu Dhabi , United Arab Emirates.

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http://dx.doi.org/10.1080/13816810.2018.1558265DOI Listing
February 2019

A novel causative mutation for congenital cataract and its underlying pathogenesis.

Ophthalmic Genet 2019 Feb 26;40(1):66-68. Epub 2018 Dec 26.

b Department of Ophthalmology , The First Affiliated Hospital of Fujian Medical University , Fuzhou , Fujian , China.

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http://dx.doi.org/10.1080/13816810.2018.1558262DOI Listing
February 2019
1 Read

Evidence of retinal degeneration in Wolfram syndrome.

Ophthalmic Genet 2019 Feb 3;40(1):34-38. Epub 2018 Dec 3.

b Cole Eye Institute , Cleveland Clinic , Cleveland , OH , USA.

Purpose: Wolfram syndrome is characterized by early onset diabetes mellitus, diabetes insipidus, deafness, and optic atrophy, but retinal degeneration has not been described as a major component of the phenotype. We present two cases with Wolfram syndrome and evidence of retinal degeneration.

Materials And Methods: Observational case series. Read More

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http://dx.doi.org/10.1080/13816810.2018.1551494DOI Listing
February 2019
2 Reads

Non-syndromic retinal dystrophy associated with homozygous mutations in the ALMS1 gene.

Ophthalmic Genet 2019 Feb 29;40(1):77-79. Epub 2018 Nov 29.

a Vitreoretinal Division , King Khaled Eye Specialist Hospital , Riyadh , Kingdom of Saudi Arabia.

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https://www.tandfonline.com/doi/full/10.1080/13816810.2018.1
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http://dx.doi.org/10.1080/13816810.2018.1551495DOI Listing
February 2019
11 Reads

Occurrence of MYOC and CYP1B1 variants in juvenile open angle glaucoma Brazilian patients.

Ophthalmic Genet 2018 12;39(6):717-724

a Laboratory of Human Genetics, Center for Molecular Biology and Genetic Engineering - CBMEG , University of Campinas - UNICAMP , Campinas , SP , Brazil.

Background: The purpose of this study was to screen juvenile open angle glaucoma (JOAG) patients from Brazil for variants within the MYOC and CYP1B1 genes.

Material And Methods: In this study, we evaluated the coding regions of MYOC and CYP1B1 genes in 100 non-related patients with JOAG and 200 controls through Sanger sequencing. We also tested the most frequent single nucleotide variants of CYP1B1 for association with JOAG. Read More

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http://dx.doi.org/10.1080/13816810.2018.1546405DOI Listing
December 2018

Electrophysiological verification of enhanced S-cone syndrome caused by a novel c.755T>C NR2E3 missense variant.

Ophthalmic Genet 2019 Feb 23;40(1):29-33. Epub 2018 Nov 23.

a Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences , Oxford University , Oxford , UK.

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 dysfunction. Patients with ESCS present in early childhood with nyctalopia, enhanced sensitivity to blue light and display a very heterogeneic retinal phenotype with varying degrees of clumped pigmentation and occasional retinoschisis. Read More

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http://dx.doi.org/10.1080/13816810.2018.1547912DOI Listing
February 2019
15 Reads

Molecular characterization of Axenfeld-Rieger spectrum and other anterior segment dysgeneses in a sample of Mexican patients.

Ophthalmic Genet 2018 12 20;39(6):728-734. Epub 2018 Nov 20.

c Departamento de Génetica , Asociación para Evitar la Ceguera en México , México , México.

Background: Anterior segment dysgenesis (ASD) and Axenfeld-Rieger spectrum (ARS) are mainly due to PITX2 and FOXC1 defects, but it is difficult in some patients to differentiate among PITX2-, FOXC1-, PAX6- and CYP1B1-related disorders. Here, we set out to characterize the pathogenic variants (PV) in PITX2, FOXC1, CYP1B1 and PAX6 in nine unrelated Mexican ARS/ASD patients and in their available affected/unaffected relatives.

Materials And Methods: Automated Sanger sequencing of PITX2, FOXC1, PAX6 and CYP1B1 was performed; those patients without a PV were subsequently analyzed by Multiplex Ligation-dependent Probe Amplification (MLPA) for PITX2, FOXC1 and PAX6. Read More

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http://dx.doi.org/10.1080/13816810.2018.1547911DOI Listing
December 2018
17 Reads

Whole genome sequencing reveals novel mutations causing autosomal dominant inherited macular degeneration.

Ophthalmic Genet 2018 12 19;39(6):763-770. Epub 2018 Nov 19.

a Department of Ophthalmology , Moorfields Eye Hospital , London , UK.

Background: Age-related macular degeneration (AMD) is a common sight threatening condition. However, there are a number of monogenic macular dystrophies that are clinically similar to AMD, which can potentially provide pathogenetic insights.

Methods: Three siblings from a non-consanguineous Greek-Cypriot family reported central visual disturbance and nyctalopia. Read More

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https://www.tandfonline.com/doi/full/10.1080/13816810.2018.1
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http://dx.doi.org/10.1080/13816810.2018.1546406DOI Listing
December 2018
8 Reads

Clinical and imaging characteristics of posterior column ataxia with retinitis pigmentosa with a specific FLVCR1 mutation.

Ophthalmic Genet 2018 12 16;39(6):735-740. Epub 2018 Nov 16.

a Department of Pediatric Ophthalmology, Strabismus, and Adult Motility , Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center , Pittsburgh , Pennsylvania , USA.

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 testing positive for FLVCR1 mutation between 1 January 2015 and 1 October 2017 at the Children's Hospital of Pittsburgh. Clinical charts, visual fields, fundus autofluorescence, and spectral-domain optical coherence tomography (SD-OCT) were reviewed. Read More

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https://www.tandfonline.com/doi/full/10.1080/13816810.2018.1
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http://dx.doi.org/10.1080/13816810.2018.1547913DOI Listing
December 2018
20 Reads

Role of the tissue-type plasminogen activator -7351C > T and plasminogen activator inhibitor 1 4G/5G gene polymorphisms in central serous chorioretinopathy.

Ophthalmic Genet 2018 12 15;39(6):714-716. Epub 2018 Nov 15.

a Department of Ophthalmology , Medical University of Graz , Graz , Austria.

Background: Central serous chorioretinopathy (CSC) is a common chorioretinal disease, characterized by choroidal hyperpermeability leading to neurosensory and/or retinal pigment epithelial detachments. Hypofibrinolysis due to higher plasma concentrations of plasminogen activator type 1 (PAI-1) or lower activity of tissue-type plasminogen activator (t-PA) has been implicated in the pathogenesis of CSC. Functional polymorphisms in the PAI-1 (SERPINE1) and t-Pa (PLAT) are thus potential risk factors for CSC. Read More

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http://dx.doi.org/10.1080/13816810.2018.1536219DOI Listing
December 2018
2 Reads

Ophthalmic manifestations in patients with Leigh syndrome, French Canadian type.

Ophthalmic Genet 2018 12 14;39(6):725-727. Epub 2018 Nov 14.

a Department of Ophthalmology , Centre Hospitalier Universitaire de Sherbrooke , Sherbrooke , Quebec , Canada.

Background: Leigh syndrome, French Canadian type is a rare neurodegenerative disease. To our knowledge, there have been no studies based on ocular findings published for this disease. The purpose of this study is to describe ophthalmic findings in these patients. Read More

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https://www.tandfonline.com/doi/full/10.1080/13816810.2018.1
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http://dx.doi.org/10.1080/13816810.2018.1546407DOI Listing
December 2018
16 Reads

FEVR findings in patients with Loeys-Dietz syndrome type II.

Ophthalmic Genet 2018 12 8;39(6):754-758. Epub 2018 Nov 8.

a Retinal Consultants , Des Plaines , IL , USA.

Background: Loeys-Dietz syndrome (LDS) is a connective tissue disorder that has phenotypic overlap with Marfan syndrome. In LDS, the aortic root dissections can be more aggressive and occur at a younger age than Marfan syndrome.

Materials And Methods: Review of two cases. Read More

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http://dx.doi.org/10.1080/13816810.2018.1532526DOI Listing
December 2018
12 Reads

Genetic screening of Russian Usher syndrome patients toward selection for gene therapy.

Ophthalmic Genet 2018 12 25;39(6):706-713. Epub 2018 Oct 25.

j Center for Genomics and Applied Gene Technology , Institute of Integrative Omics and Applied Biotechnology (IIOAB) , Nonakuri, Purba Medinipur , West Bengal , India.

Background: Usher syndrome (USH) is heterogeneous in nature and requires genetic test for diagnosis and management. Mutations in USH associated genes are reported in some populations except Russians. Here, we first time represented the mutation spectrum of a Russian USH cohort. Read More

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http://dx.doi.org/10.1080/13816810.2018.1532527DOI Listing
December 2018
6 Reads

Bevacizumab for the treatment of intraretinal cystic spaces in a patient with gyrate atrophy of the choroid and retina.

Ophthalmic Genet 2018 12 18;39(6):759-762. Epub 2018 Oct 18.

a Department of Ophthalmology , Cairo University , Cairo , Egypt.

Background: Gyrate atrophy of the choroid and retina is a rare autosomal recessive condition characterized by chorioretinal atrophy due to deficiency of the enzyme ornithine aminotransferase that can be complicated by intraretinal cystic spaces.

Case Report: A 15-year-old female complaining of gradually progressive diminution of vision in both eyes preceded by night blindness was found to have gyrate atrophy of the choroid and retina with intraretinal cystic spaces that was evaluated using multimodal imaging including fluorescein angiography, optical coherence tomography, and optical coherence tomography angiography. Functional and anatomical improvement of the intraretinal cystic spaces was achieved with monthly intravitreal bevacizumab injections. Read More

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http://dx.doi.org/10.1080/13816810.2018.1536220DOI Listing
December 2018
1 Read

Gene therapy for RPE65-related retinal disease.

Ophthalmic Genet 2018 12 18;39(6):671-677. Epub 2018 Oct 18.

c Cleveland Clinic , Cole Eye Institute , Cleveland , OH , USA.

Significant discoveries in the etiology and pathogenesis of inherited retinal diseases (IRDs) have been made in the last few decades. Of the large number genes that cause IRDs, bi-allelic mutations in RPE65 lead to Leber Congenital Amaurosis type 2 (LCA 2), and can also result in phenotypes described as severe early childhood onset retinal dystrophy (SECORD) and Retinitis pigmentosa 20 (RP20). Following the publication of the successful Phase-III clinical trials of gene augmentation surgery for RPE65-related IRDs with voretigene neparvovec, the FDA approved the commercial use of this pharmacologic agent in December 2017. Read More

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http://dx.doi.org/10.1080/13816810.2018.1533027DOI Listing
December 2018
19 Reads

Association analysis of genetic polymorphisms and expression levels of selected genes involved in extracellular matrix turnover and angiogenesis with the risk of age-related macular degeneration.

Ophthalmic Genet 2018 12 5;39(6):684-698. Epub 2018 Oct 5.

b Department of Ophthalmology and Visual Rehabilitation , Central Veterans' Hospital , Lodz , Poland.

Background: Age-related macular degeneration is a progressive eye disease affecting the macula and causing acute visual loss particularly in elder people. The aim of the study was an attempt to discern an influence of expression levels and functional genetic polymorphisms of selected genes related to the extracellular matrix turnover or neovascularization on age-related macular degeneration occurrence and progression.

Methods: We conducted a case-control study of 200 polish patients with recognized age-related macular degeneration (dry and wet) and compared the results with those obtained from matched 100 healthy control subjects. Read More

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https://www.tandfonline.com/doi/full/10.1080/13816810.2018.1
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http://dx.doi.org/10.1080/13816810.2018.1525752DOI Listing
December 2018
16 Reads

Novel causative variants in patients with achromatopsia.

Ophthalmic Genet 2018 12 5;39(6):678-683. Epub 2018 Oct 5.

e King Khaled Eye Specialist Hospital , Vitreoretinal Division , Riyadh , Saudi Arabia.

Purpose: To report five novel genetic variants in seven unrelated consanguineous families with achromatopsia (ACHM).

Methods: Patients were examined with multimodal retinal imaging and full-field electroretinography (ffERG). Genetic testing was conducted using next-generation sequencing (NGS). Read More

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https://www.tandfonline.com/doi/full/10.1080/13816810.2018.1
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http://dx.doi.org/10.1080/13816810.2018.1522653DOI Listing
December 2018
13 Reads

CFH Y402H polymorphism in Italian patients with age-related macular degeneration, retinitis pigmentosa, and Stargardt disease.

Ophthalmic Genet 2018 12 4;39(6):699-705. Epub 2018 Oct 4.

a Department of Surgery and Translational Medicine, Eye Clinic , Careggi Teaching Hospital, University of Florence , Florence , Italy.

Background: The complement system has been implicated in the pathogenesis of age-related macular degeneration (AMD) and the CFH Y402H polymorphism has been suggested as a major risk factor for AMD. Recent evidences supported the role of inflammation in the pathogenesis of some retinal dystrophies. Aim of this study was to evaluate the prevalence of CFHY402H polymorphism in a group of Italian patients affected by atrophic AMD, Stargardt disease (STGD), or retinitis pigmentosa(RP). Read More

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https://www.tandfonline.com/doi/full/10.1080/13816810.2018.1
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http://dx.doi.org/10.1080/13816810.2018.1525753DOI Listing
December 2018
14 Reads

Novel truncating mutation in CACNA1F in a young male patient diagnosed with optic atrophy.

Ophthalmic Genet 2018 12 27;39(6):741-748. Epub 2018 Sep 27.

b Department of Ophthalmology , Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU) , Erlangen , Germany.

Background: Low vision in children can be accompanied by pallor of the optic disc with little or no characteristic morphologic changes of the retina. A variety of diseases can be the underlying cause, including hereditary optic atrophy, Leber's congenital amaurosis (LCA), achromatopsia, and calcium channel, voltage-dependent, L-type, alpha-1F subunit gene (CACNA1F)-associated retinopathy (most widely known as incomplete congenital stationary night blindness: iCSNB). Differentiation at early age is desirable due to large differences in prognosis, but may be difficult because phenotypes overlap and electrophysiological testing is challenging in young patients. Read More

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http://dx.doi.org/10.1080/13816810.2018.1520263DOI Listing
December 2018
16 Reads

A novel missense mutation in BEST1 associated with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype.

Ophthalmic Genet 2018 12 17;39(6):749-753. Epub 2018 Sep 17.

a Departments of Ophthalmology , Mayo Clinic , Rochester , MN , USA.

Background: To report a 68-year-old female with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype associated with a subretinal hemorrhage (SRH) and novel BEST1 pathogenic variation p.Met571Thr.

Materials And Methods: The patient was assessed by fundus photography, fluorescence and indocyanine green angiography, spectral-domain optical coherence tomography, photopic and scotopic electroretinogram (ERG), and electrooculogram (EOG). Read More

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http://dx.doi.org/10.1080/13816810.2018.1520264DOI Listing
December 2018
8 Reads

The uncommon occurrence of two common inherited disorders in a single patient: a mini case series.

Ophthalmic Genet 2018 10 29;39(5):631-636. Epub 2018 Aug 29.

a Department of Ophthalmology and Visual Sciences , Carver College of Medicine, University of Iowa , Iowa City , IA, USA.

Background: Inherited eye disorders are genetically determined conditions that are present from birth and usually manifest early, although some may develop later in life. Despite their low incidence, they are a common etiology of pediatric blindness. The occurrence of more than one such disease in a patient is very rare. Read More

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https://www.tandfonline.com/doi/full/10.1080/13816810.2018.1
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http://dx.doi.org/10.1080/13816810.2018.1498530DOI Listing
October 2018
19 Reads

Fundus phenotype in retinitis pigmentosa associated with EYS mutations.

Ophthalmic Genet 2018 10 28;39(5):589-602. Epub 2018 Aug 28.

a Department of Surgery and Translational Medicine , Eye Clinic, University of Florence , Florence , Italy.

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 underwent a comprehensive opthalmological examination. Read More

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https://www.tandfonline.com/doi/full/10.1080/13816810.2018.1
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http://dx.doi.org/10.1080/13816810.2018.1509351DOI Listing
October 2018
16 Reads
1.233 Impact Factor

Structural disease progression in PDE6-associated autosomal recessive retinitis pigmentosa.

Ophthalmic Genet 2018 10 28;39(5):610-614. Epub 2018 Aug 28.

a Department of Ophthalmology , Columbia University , New York , New York , USA.

Background And Objective: To evaluate the progression of retinitis pigmentosa (RP) caused by mutations in either PDE6A or PDE6B by measuring the progressive constriction of the hyperautofluorescent ring and shortening of the ellipsoid zone (EZ)-line width.

Patients And Methods: Fundus autofluorescence (FAF) and spectral-domain optical coherence tomography (SD-OCT) images were obtained from seven patients with autosomal recessive RP caused by mutations in either PDE6A or PDE6B. Measurements of the EZ line width on SD-OCT images and horizontal, vertical diameter, and ring area on FAF images were performed by two independent graders. Read More

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https://www.tandfonline.com/doi/full/10.1080/13816810.2018.1
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http://dx.doi.org/10.1080/13816810.2018.1509354DOI Listing
October 2018
10 Reads

MicroRNA-related polymorphisms in pseudoexfoliation syndrome, pseudoexfoliative glaucoma, and primary open-angle glaucoma.

Ophthalmic Genet 2018 10 27;39(5):603-609. Epub 2018 Aug 27.

b Laboratory of Research and Clinical Applications in Ophthalmology, 1st Department of Ophthalmology , School of Medicine, Aristotle University of Thessaloniki, AHEPA Hospital , Thessaloniki , Greece.

Background: Pseudoexfoliation syndrome (PEX) and glaucoma (pseudoexfoliative glaucoma; PEXG, primary open-angle glaucoma; POAG) have mainly been studied for their associations with genes' polymorphisms. The purpose of this exploratory study was to investigate the role of polymorphisms in genes encoding for micro RNAs (miRNAs) and in genes related to miRNA biogenesis.

Material And Methods: In the present genetic association study, ninety-two polymorphisms were investigated for their contribution to PEX (n = 203), PEXG (n = 38), and POAG (n = 40) pathogenesis compared to a control group (n = 188). Read More

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http://dx.doi.org/10.1080/13816810.2018.1509352DOI Listing
October 2018
2 Reads
1.233 Impact Factor

Lurking below: massive choroidal invasion under a calcified tumor after attempted conservative therapy for retinoblastoma.

Ophthalmic Genet 2018 10 24;39(5):653-657. Epub 2018 Aug 24.

a USC Roski Eye Institute, Department of Ophthalmology , University of Southern California , Los Angeles , CA , USA.

Background: In the conservative management of retinoblastoma, detection of tumor activity beneath large, calcified tumors presents a challenging aspect of care as local consolidation is limited in this area. Routine imaging modalities, including magnetic resonance imaging, B-scan ultrasound, and optical coherence tomography, are also limited in providing appropriate surveillance for recurrent disease.

Materials And Methods: Medical records were reviewed to evaluate patients' demographic data, ophthalmic exams, imaging studies, and histopathologic reports. Read More

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http://dx.doi.org/10.1080/13816810.2018.1513535DOI Listing
October 2018
17 Reads

Retinal detachment and infantile-onset glaucoma in Stickler syndrome associated with known and novel COL2A1 mutations.

Ophthalmic Genet 2018 10 21;39(5):615-618. Epub 2018 Aug 21.

a Kellogg Eye Center, Department of Ophthalmology and Visual Sciences , University of Michigan , Ann Arbor , MI , USA.

Background: Few reports on surgical outcomes after retinal detachment in Stickler syndrome exist. Also, infantile-onset glaucoma associated with Stickler syndrome has been rarely reported and no reports exist that examine outcomes after glaucoma surgery. This study describes the clinical and genetic associations and the long-term outcomes of retinal detachment repair or glaucoma surgery in patients with Stickler syndrome. Read More

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http://dx.doi.org/10.1080/13816810.2018.1509355DOI Listing
October 2018
4 Reads

A sibling study of isolated optic neuropathy associated with novel variants in the ACO2 gene.

Ophthalmic Genet 2018 10 17;39(5):648-651. Epub 2018 Aug 17.

a Save Sight Institute , Sydney , NSW , Australia.

Inherited optic neuropathy is a rare cause of debilitating vision loss. It may occur in constellation with other syndromic features of neurological impairment, or present as an isolated finding. We describe a sibling pair, without a family history of vision loss, who developed visual impairment in early childhood consistent with optic neuropathy. Read More

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https://www.tandfonline.com/doi/full/10.1080/13816810.2018.1
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http://dx.doi.org/10.1080/13816810.2018.1509353DOI Listing
October 2018
22 Reads

Apolipoprotein E polymorphism and age-related macular degeneration.

Ophthalmic Genet 2018 10 13;39(5):668. Epub 2018 Aug 13.

b Department of Community Medicine , Dr DY Patil University , Pune , India.

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http://dx.doi.org/10.1080/13816810.2018.1509356DOI Listing
October 2018
1 Read