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Journal Ophthalmic Genet.

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A de novo mutation in PITX2 underlies a unique form of Axenfeld-Rieger syndrome with corneal neovascularization and extensive proliferative vitreoretinopathy.

Stephanie N Kletke, Ajoy Vincent, Jason T Maynes, Uri Elbaz, Kamiar Mireskandari, Wai-Ching Lam, Asim Ali,

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 at 5 weeks of age with bilateral Peters anomaly and Axenfeld-Rieger syndrome, with ... Read more >>

Ophthalmic Genet. (Ophthalmic genetics)
[2020, :1-5]

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A novel SVA retrotransposon insertion in the CHM gene results in loss of REP-1 causing choroideremia.

Kaylie D Jones, Alina Radziwon, David G Birch, Ian M MacDonald,

BACKGROUND:Choroideremia is an X-linked retinal disease characterized by progressive atrophy of the choroid and retinal pigment epithelium caused by mutations in the CHM gene. SVA (SINE-R/VNTR/Alu) elements are a type of non-autonomous retrotransposon that occasionally self-replicate, reinsert randomly into a gene, and cause disease. Intragenic SVA insertions have been reported ... Read more >>

Ophthalmic Genet. (Ophthalmic genetics)
[2020, :1-4]

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Senior-Løken syndrome and intracranial hypertension.

Su Ann Tay, Andrea L Vincent,

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 headaches and swollen optic nerve heads, review of ... Read more >>

Ophthalmic Genet. (Ophthalmic genetics)
[2020, :1-4]

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KCNV2 retinopathy: clinical features, molecular genetics and directions for future therapy.

Thales A C De Guimaraes, Michalis Georgiou, Anthony G Robson, Michel Michaelides,

KCNV2:-associated retinopathy or "cone dystrophy with supernormal rod responses" is an autosomal recessive cone-rod dystrophy with pathognomonic ERG findings. This gene encodes Kv8.2, a voltage-gated potassium channel subunit that acts as a modulator by shifting the activation range of the K+ channels in photoreceptor inner segments. Currently, no treatment is ... Read more >>

Ophthalmic Genet. (Ophthalmic genetics)
[2020, :1-8]

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Associations between IL1RAP rs4624606, IL1RL1 rs1041973, IL-6 rs1800795, and HTRA1 rs11200638 gene polymorphisms and development of optic neuritis with or without multiple sclerosis.

Valdas Stonys, Miglė Lindžiūtė, Alvita Vilkevičiūtė, Greta Gedvilaitė, Loresa Kriaučiūnienė, Mantas Banevičius, Reda Žemaitienė, Rasa Liutkevičienė,

BACKGROUND:Optic neuritis (ON) and multiple sclerosis (MS) are complex diseases with multifactorial pathogenesis. The role of genetic factors in the development of these diseases is hypothesized, and specific biochemical components involved in the pathogenesis of ON and MS are yet to be determined. The aim of our study was to ... Read more >>

Ophthalmic Genet. (Ophthalmic genetics)
[2020, :1-6]

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Programmed screening for retinoblastoma enhances early diagnosis and improves management outcome for high-risk children.

Yacoub A Yousef, Abdelrahman Alkhoms, Reem AlJabari, Mays AlJboor, Mona Mohammad, Maha Lahlouh, Rasha Deebajah, Hadeel Halalsheh, Maysa Al-Hussaini, Imad Jaradat, Munir Shawagfeh, Iyad Sultan, Mustafa Mehyar, Ibrahim AlNawaiseh,

Purpose: To study the impact of a Retinoblastoma (Rb) screening program in the absence of genetic testing on the management and outcome of high-risk children.Methods: This is a retrospective, clinical case series of 76 children from families involved in a Rb screening program as they had higher than normal risk ... Read more >>

Ophthalmic Genet. (Ophthalmic genetics)
[2020, :1-7]

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Long-term resolution of chronic macular edema after a single dose of intravitreal dexamethasone in familial retinal arterial macroaneurysm.

Abdulrahman AlZaid, Moustafa Magliyah, Patrik Schatz, Hassan Al-Dhibi,

Purpose: To report a favorable effect of intravitreal dexamethasone implantation in Familial Retinal Arterial Macroaneurysms (FRAM).Methods: Retrospective Case Report.Results: A 32-year-old male who presented with bilateral retinal macroaneurysms. Whole Exome Sequencing (WES) revealed a homozygous c.830-1 G > A mutation in Insulin Growth Factor Binding Protein 7 (IGFBP7) gene, confirming the diagnosis FRAM. ... Read more >>

Ophthalmic Genet. (Ophthalmic genetics)
[2020, :1-3]

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Association of combined complement factor H Y402H and ARMS2/LOC387715 A69S polymorphisms with age-related macular degeneration: an updated meta-analysis.

Mohammad Hossein Jabbarpoor Bonyadi, Mehdi Yaseri, Masoud Soheilian,

Background: Complement factor H (CFH) Y402 H (rs1061170) and age-related maculopathy susceptibility2 (ARMS2)/LOC387715 A69 S (rs10490924) polymorphisms shown to have significant association with AMD. In this meta-analysis, we updated and pooled the results of available association studies between combined ARMS2/LOC387715A69 S-CFHY402 H genotypes and AMD to estimate the synergistic effects.Methods: Heterogeneity of studies was ... Read more >>

Ophthalmic Genet. (Ophthalmic genetics)
[2020, :1-7]

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A family of fuchs endothelial corneal dystrophy and anterior polar cataract with an analysis of whole exome sequencing.

Xue Jiang, Xin Jin, Nan Zhang, Hong Zhang,

Purpose: Our aim was to introduce a family affected by this rare phenotype, and perform the whole exome sequencing (WES) to explore the potential candidate genes causing the disorders.Methods: A five-generation family including five patients affected by FECD with APC, and nine patients suffered from only FECD was recruited from ... Read more >>

Ophthalmic Genet. (Ophthalmic genetics)
[2020, :1-8]

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A novel c.287G>T NDP missense mutation in a Chinese family with Norrie disease.

Meina Lin, Yongping Lu, Yu Sui, Xiang Ni, Huan Li, Xinren Chen, Ning Zhao, Miao Jiang,

Background: Norrie disease is a rare X-linked recessive disorder in affected males. The typical features are congenital blindness, progressive hearing impairment, and, in some cases, some degree of mental retardation, microphthalmia, microcornea, growth failure, and seizures. Norrie disease is caused by mutations in the Norrie disease pseudoglioma gene (NDP), which ... Read more >>

Ophthalmic Genet. (Ophthalmic genetics)
[2020, :1-3]

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Correction.

Ophthalmic Genet. (Ophthalmic genetics)
[2020, :i]

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Cystoid macular edema precipitated by altitude in a patient with X-linked retinitis pigmentosa.

Peter Y Zhao, Peter G Hovland, Abigail Teich Fahim,

Background: X-linked retinitis pigmentosa (XLRP) is a hereditary retinopathy that may present with cystoid macular edema (CME). The exact cause of CME in XLRP is unknown. We describe a case report of new-onset CME precipitated by travel to high altitude in an adult with XLRP, but no known prior history ... Read more >>

Ophthalmic Genet. (Ophthalmic genetics)
[2020, :1-4]

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Living with type I Usher syndrome: insights from patients and their parents.

Aude Roborel de Climens, Béatrice Tugaut, Andrea Piscopo, Benoit Arnould, Ronald Buggage, Catherine Brun-Strang,

Background: Type 1 Usher syndrome (USH1) is a rare disease and major cause of genetic deaf-blindness. Deafness is present from birth while retinitis pigmentosa (RP) which typically presents during childhood is progressive leading to blindness. The aim of this research was to develop a disease model describing USH1 symptoms and ... Read more >>

Ophthalmic Genet. (Ophthalmic genetics)
[2020, :1-12]

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Atypical and ultra-rare Usher syndrome: a review.

Rosalie M Nolen, Robert B Hufnagel, Thomas B Friedman, Amy E Turriff, Carmen C Brewer, Christopher K Zalewski, Kelly A King, Tala T Wafa, Andrew J Griffith, Brian P Brooks, Brian P Brooks, Wadih M Zein,

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. Recent literature has seen ... Read more >>

Ophthalmic Genet. (Ophthalmic genetics)
[2020, :1-12]

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Juvenile cataract in association with tuberous sclerosis complex.

A L Geffrey, K R Geenen, E Abati, S H Greenstein, D K VanderVeen, R L Levy, S L Davidson, M P McGarrey, E A Thiele, M E Aronow,

Background: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by benign hamartomas occurring in multiple organ systems including the brain, kidneys, heart, lungs, liver, skin, and the eyes. Typical retinal findings associated with TSC include astrocytic hamartoma and achromic patch. While rare cases of cataract occurring in ... Read more >>

Ophthalmic Genet. (Ophthalmic genetics)
[2020, :1-5]

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Optical coherence tomography-angiographic vascular densities in Familial Mediterranean Fever (FMF) Patients with M694V Mutations.

Cemal Çavdarli, Büsranur Çavdarli, Pinar Topcu-Yilmaz, Burcu Polat Gültekin,

Familial Mediterranean fever (FMF) is a hereditary auto-inflammatory disease with accompanying findings of amyloidosis and vasculitis. M694V is one of the most common mutations associated with amyloidosis. This study compared the macular optical coherence tomography angiography measurements in FMF patients who were genetically verified to carry the M694V mutation of ... Read more >>

Ophthalmic Genet. (Ophthalmic genetics)
[2020, :1-6]

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Tumor necrosis factor (TNF)-308, -1031, and angiotensin-converting enzyme (ACE) DD/II polymorphisms' role in Behcet's disease with and without uveitis: a meta-analysis.

Mohammad Hossein Jabbarpoor Bonyadi, Mehdi Yaseri, Masoud Soheilian,

Purpose: There are conflicting results of studies investigating the association between the tumor necrosis factor (TNF) and angiotensin-converting enzyme (ACE) gene polymorphisms and Behcet's disease (BD). The aim of this meta-analysis is to assess the association between these gene polymorphisms and ocular involvement in BD.Methods: We identified relevant studies and ... Read more >>

Ophthalmic Genet. (Ophthalmic genetics)
[2020, :1-5]

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"Eye genetics at the fork in the road" 2017 Franceschetti Lecture, Leeds UK.

David Mackey,

Inherited retinal diseases - a disparate group of eye disorders with over 200 known genetic causes - are now the leading cause of blindness in working-age adults in developed countries. Until recently there was no cure for genetic eye diseases. After over a century of defining inherited retinal diseases with ... Read more >>

Ophthalmic Genet. (Ophthalmic genetics)
[2020, :1-7]

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Rates of diagnostic genetic testing in a tertiary ocular genetics clinic.

R Scott Lowery, John R Dehnel, G Bradley Schaefer, Sami H Uwaydat,

Background: Clinical genetics has evolved significantly to become an efficient and effective means of diagnosing disease. Genetic treatments are now being developed which are showing promising results. However, ophthalmic patients are not utilizing genetic testing as part of their diagnostic workups. This paper explores the patient experience at the Ocular ... Read more >>

Ophthalmic Genet. (Ophthalmic genetics)
[2020, :1-4]

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Nonsyndromic retinitis pigmentosa caused by two novel variants in the HGSNAT gene in a Chinese family.

Yanling Long, Sha Li, Limeng Dai, Xiao Liu, Xin Yin, Jiayun Ren, Hong Guo, Yong Liu, Xiaohong Meng, Shiying Li,

Ophthalmic Genet. (Ophthalmic genetics)
[2020, :1-4]

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A novel homozygous c.67C>T variant in retinol binding protein 4 (RBP4) associated with retinitis pigmentosa and childhood acne vulgaris.

J Cehajic-Kapetanovic, K M Jasani, M Shanks, P Clouston, R E MacLaren,

Background: The retinol binding protein 4 (RBP4) is essential in delivering retinol to the retinal pigment epithelium and normal functioning of the visual cycle. Homozygous mutations in the RBP4 gene lead to severe retinitis pigmentosa that is phenotypically indistinguishable from retinitis pigmentosa caused by other recessive mutations.Methods: Case Report.Purpose: To ... Read more >>

Ophthalmic Genet. (Ophthalmic genetics)
[2020, :1-5]

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Paroxonase (PON1-L55M) gene polymorphism and its association with Behçet's disease among Iranian population.

Samaneh Mesgari, Saba A Nazm, Mortaza Bonyadi, Mohammad Hossein Jabbarpoor Bonyadi, Masoud Soheilian,

Ophthalmic Genet. (Ophthalmic genetics)
[2020, :1-2]

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Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review.

Kirstine B Boysen, Morten La Cour, Line Kessel,

Background: Stickler syndrome is a collagenopathy caused by mutations in the genes COL2A1 (STL1) or COL11A1 (STL2). Affected patients manifest ocular, auditory, articular, and craniofacial manifestations in varying degrees. Ocular symptoms include myopia, retinal detachment, cataract, and glaucoma. The aim of this systematic review was to evaluate the prevalence of ... Read more >>

Ophthalmic Genet. (Ophthalmic genetics)
[2020, :1-12]

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"Role of polymorphisms of the NLRP3 inflammasome in uveitis".

Stephanie Sarny, Ewald Lindner, Marija Anticic, Yosuf El-Shabrawi,

Ophthalmic Genet. (Ophthalmic genetics)
[2020, :1-2]

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Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss.

Heather A Stiff, Christina M Sloan-Heggen, Ashley Ko, Wanda L Pfeifer, Diana L Kolbe, Carla J Nishimura, Kathy L Frees, Kevin T Booth, Donghong Wang, Amy E Weaver, Hela Azaiez, John Kamholz, Richard J H Smith, Arlene V Drack,

Background: Usher syndrome is the most common hereditary syndrome combining deafness and blindness. In the 2017 National Child Count of Children and Youth who are Deaf-Blind, Usher syndrome represented 329 of 10,000 children, but there were also at least 70 other etiologies of deaf-blindness documented. The purpose of this study ... Read more >>

Ophthalmic Genet. (Ophthalmic genetics)
[2020, 41(2):151-158]

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