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Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome?
CONCLUSION: The four siblings had a novel splice site mutation in RAB3GAP2. This report compares the symptoms and features of the our patients with clinical summary of Warburg Micro syndrome 2 and Martsolf syndrome. Further reports will make possible knowing of the genetic and clinical backgrounds of this orphan diseases. Abbreviation: MRI: Magnetic resonance imaging. PMID: 29419336 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - February 10, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Identification of PITX3 mutations in individuals with various ocular developmental defects.
CONCLUSIONS: Our study unveils different phenotypes associated with known and novel mutations in PITX3, which will improve the genetic counselling of patients and their families. PMID: 29405783 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - February 8, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Identification and genotype phenotype correlation of novel mutations in SIX6 gene in primary open angle glaucoma.
CONCLUSION: These results expand the mutation spectrum of SIX6 gene and suggest that SIX6 gene plays an important role in POAG pathogenesis. PMID: 29405792 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - February 8, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Correction to: Valgaeren, Koppen and Van Camp, A New Perspective on the Genetics of Keratoconus: Why Have We Not Been More Successful?
Authors: PMID: 29400575 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - February 7, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

The distinct optic disk and peripapillary appearance in Donnai-Barrow syndrome.
CONCLUSIONS: A distinctive optic nerve head dysgenesis is part of Donnai-Barrow syndrome and can help distinguish its ocular phenotype from other vitreo-retinopathies associated with high myopia. PMID: 29388841 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - February 3, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

The relationship between HDAC6, CXCR3, and SIRT1 genes expression levels with progression of primary open-angle glaucoma.
CONCLUSIONS: The expression level of HDAC6, CXCR3, and SIRT1 genes may be involved in the progression of POAG. PMID: 29384425 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - February 1, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Novel compound heterozygous mutation in the POC1B gene underlie peripheral cone dystrophy in a Chinese family.
CONCLUSIONS: PCD was a type of COD or CORD and the novel compound heterozygous mutation in POC1B was responsible for PCD phenotype in the family. PMID: 29377742 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - January 31, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Misdiagnosis of X-linked retinitis pigmentosa in a choroideremia patient with heavily pigmented fundi.
Authors: Nanda A, Salvetti AP, Martinez-Fernandez de la Camara C, MacLaren RE Abstract Inherited retinal diseases are thought to be the leading cause of sight loss in the working age population. Mutations found in the RPGR and CHM genes cause retinitis pigmentosa (RP) and choroideremia, respectively. In the first instance, an X-linked family history of visual field loss commonly raises the suspicion of one of these two genes. In choroideremia, the classic description of a white fundal reflex secondary to the widespread chorioretinal degeneration was made over a hundred years ago in Caucasians. But, it is not so obv...
Source: Ophthalmic Genetics - January 31, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Novel retinal findings in peroxisomal biogenesis disorders.
We report an unusual retinal manifestation of peroxisomal biogenesis disorder. PMID: 29377746 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - January 31, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Long-term follow-up of autosomal dominant Stargardt macular dystrophy (STGD3) subjects enrolled in a fish oil supplement interventional trial.
CONCLUSIONS: Our inability to detect a benefit of fish oil could be the result of small subject numbers, poor compliance, or intervention too late in the course of the disease. We still advise STGD3 patients to consume fish or fish oil regularly, and we recommend that pre-symptomatic children with ELOVL4 mutations should be especially targeted for these interventions. PMID: 29377748 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - January 31, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Methylenetetrahydrofolate reductase C677T polymorphism and diabetic retinopathy.
Authors: Joob B, Wiwanitkit V PMID: 29373052 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - January 28, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Incidental neuroblastoma with bilateral retinoblastoma: what are the chances?
Authors: Roelofs K, Shaikh F, Astle W, Gallie BL, Soliman SE Abstract A child with bilateral familial retinoblastoma underwent staging MRI brain and orbit which identified subtle leptomeningeal enhancement, thus prompting an MRI whole body, which revealed a retroperitoneal mass, confirmed on laparoscopic biopsy to be neuroblastoma. This is the first reported case of these two rare embryonal non-central nervous system tumors occurring concurrently. The cause of this concurrence is unknown despite their pathogenic similarities with a chance of 4 cases per 10 billion children aged 1-4 years. Incidental neuroblast...
Source: Ophthalmic Genetics - January 18, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Pupillary manifestations of Marfan syndrome: from the Marfan eye consortium of Chicago.
CONCLUSIONS: Our data highlight pupillary parameters within a population of MFS patients under scotopic conditions. Constriction and dilation velocities were slower in the pediatric MFS patients compared to age- and gender-matched controls, and dilation velocities were slower in the adult MFS patients compared to age-matched controls. These findings, for the first time, quantitatively demonstrated differences in pupillary function in patients with MFS. PMID: 29336629 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - January 18, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

M öbius syndrome with cardiac rhabdomyomas.
CONCLUSION: This case highlights the rare co-occurrence of cardiac rhabdomyomas with Möbius syndrome and new segmental loss at 21q21.2 on genetic testing. Findings could indicate not a "suggestion of Möbius", but rather the syndrome itself in association with cardiac defects. PMID: 29336632 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - January 18, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Linear nevus sebaceous syndrome presenting as circumscribed choroidal hemangioma.
Authors: Echegaray JJ, Chen R, Bellerive C, Singh AD Abstract A 4-year-old female with a unilateral circumscribed choroidal hemangioma and secondary total exudative retinal detachment. A nasal skin scar-like lesion incised to confirm a histopathologic diagnosis of linear nevus sebaceous. Further imaging disclosed asymmetry of the lateral ventricle frontal horns, suggestive of the diagnosis of linear nevus sebaceous syndrome. The choroidal hemangioma was treated with I-125 episcleral brachytherapy (apical dose of 45 Gy). At 6 months post-radiation, the tumor showed regression with total resolution of exuda...
Source: Ophthalmic Genetics - January 17, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options.
This article aims to provide a comprehensive review of the clinical features of the condition, its genetic basis and the underlying pathogenesis. We also explore the insights derived from animal models, including the implications for gene supplementation approaches. Finally, we discuss current human gene therapy trials. PMID: 29303385 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - January 6, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Investigating the disease association of USH2A p.C759F variant by leveraging large retinitis pigmentosa cohort data.
Authors: DuPont M, Jones EM, Xu M, Chen R PMID: 29283788 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - December 30, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Lack of correlation between age at diagnosis and RB1 mutations for unilateral retinoblastoma: the importance of genetic testing.
Authors: Berry JL, Lewis L, Zolfaghari E, Green S, Le BHA, Lee TC, Murphree AL, Kim JW, Jubran R PMID: 29286867 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - December 30, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

DNA methylation at the 9p21 glaucoma susceptibility locus is associated with normal-tension glaucoma.
CONCLUSION: This study reveals an association of methylation status in the CDKN2B promoter with NTG, particularly in females. This suggests that the observed genetic association with the disease at this locus could be in part due to epigenetic mechanisms, and is likely to be independent of the association of nonsynonymous coding variation within the gene. PMID: 29265947 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - December 23, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

TP53 codon 72 polymorphism and the risk of glaucoma in a north Indian cohort: A genetic association study.
CONCLUSIONS: Ours is the first study demonstrating the association of TP53 P72R with the risk of PACG. It emphasizes that apart from narrow anterior chamber angle, impaired apoptotic mechanisms could also be an important contributor toward PACG. PMID: 29261364 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - December 22, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Genotype-phenotype variability of retinal manifestation in primary hyperoxaluria type 1.
CONCLUSIONS: PH1 is potentially accompanied with a considerable decline in visual acuity due to macular scaring and fibrosis, whereas a profound variability of ocular manifestations can be observed in PH1 patients with identical genotypes. PMID: 29244539 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - December 16, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Case of Cone Dystrophy with Normal Fundus Appearance Associated with Biallelic POC1B Variants.
CONCLUSIONS: The cone dystrophy associated with POC1B variants has features similar to achromatopsia, and genetic analyses is useful in discriminating these two diseases. PMID: 29220607 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - December 10, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Congenital cavitary optic disc anomaly and Axenfeld's anomaly in Wolf-Hirschhorn syndrome: A case report and review of the literature.
CONCLUSIONS: We describe the ocular phenotype of a patient with Wolf-Hirschhorn syndrome, including the rare descriptions and photographs of Axenfeld's anomaly, megalopapilla, and cavitary optic disc anomaly in this condition. PMID: 29199884 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - December 6, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia.
Authors: Yusuf IH, Shanks ME, Clouston P, MacLaren RE Abstract FLVCR1 (feline leukemia virus subgroup c receptor 1) is a transmembrane protein involved in the trafficking of intracellular heme. Homozygous variants in FLVCR1 have been described in association with a clinical syndrome of posterior column ataxia with retinitis pigmentosa (PCARP). Here, we describe a patient with non-syndromic retinitis pigmentosa homozygous for a splice-site variant in FLVCR1 (c.1092 + 5G>A) without evidence of posterior column ataxia or cerebellar degeneration. We suggest an association between intronic splice-site varia...
Source: Ophthalmic Genetics - December 3, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

The relationship between methylenetetrahydrofolate reductase C677T polymorphism and diabetic retinopathy: A meta-analysis in multiethnic groups.
CONCLUSIONS: Our study suggested that the MTHFR C677T polymorphism may contribute to DR development in multiethnic groups. Studies with larger sample sizes and wider spectrum of populations are warranted to verify this finding. PMID: 29182429 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 30, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Diagnosis of multiple endocrine neoplasia type 2B and management of its ocular features.
CONCLUSIONS: Ophthalmologists play a vital role in recognizing this rare but lethal malignancy. We report on a patient with apart from characteristic ocular findings also staphylococcal hypersensitivity and widespread systemic vasculopathy. PMID: 29182461 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 30, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Myopia rates in a genetically isolated population.
Authors: Galvis V, Tello A, Gomez LM, Otero J PMID: 29172844 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 29, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Temporal retinal thinning and the diagnosis of Alport syndrome and Thin basement membrane nephropathy.
This study compared retinal thinning in Alport syndrome and other renal diseases. METHODS: Alport syndrome was diagnosed on renal biopsy and genetic testing. Subjects underwent optical coherence tomography (OCT) (Spectralis OCT, Heidelberg Instruments). Retinal thinning was determined from horizontal macular OCT scans through the foveal center using the formula: Temporal thickness index (TTI) = (nasal - temporal thickness) ÷ nasal thickness × 100%, and compared with the normal range for each age group. Statistical analysis was performed using Student's t test, Mann-Whitney U test, and ROC analysi...
Source: Ophthalmic Genetics - November 29, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Response to Galvis et al.'s "Myopia rates in a genetically isolated population".
Response to Galvis et al.'s "Myopia rates in a genetically isolated population". Ophthalmic Genet. 2017 Nov 27;:1 Authors: Hilkert SM, Parness-Yossifon R, Mets-Halgrimson R, Mets MB PMID: 29172911 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 29, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Unilateral Coats'-like disease and an intragenic deletion in the TERC gene: A case report.
We report a case of a 25-year-old woman with unilateral Coats'-like disease. Her brother was previously diagnosed with an autosomal dominant form of dyskeratosis congenita. Genetic testing was performed by screening the TERC gene for mutations and identified heterozygosity for the n.68_124del mutation. Our case demonstrates that the exudative retinopathy seen in Coats'-like disease can be caused by mutations in a telomere-capping gene TERC as a part of the dyskeratosis congenita spectrum without other systemic involvement. This is an interesting case that illustrates that retinal Coats'-like involvement can be the first ma...
Source: Ophthalmic Genetics - November 23, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Editorial Board EOV.
Authors: PMID: 29166206 [PubMed - in process] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 23, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Risk allele of the FZD4 gene for familial exudative vitreoretinopathy.
Authors: Kondo H, Uchio E, Kusaka S, Higasa K PMID: 29135315 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 16, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

A rare form of ankyloblepharon filiforme adnatum associated with the Hay-Wells syndrome and a c.1709T > C mutation on the TP63 gene.
CONCLUSIONS: The mutation was not previously described in the literature or databases and should be included into these as probably pathogenic. A multidisciplinary approach is necessary to care for a patient with Hay-Wells syndrome, such care however can provide good results. PMID: 29140732 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 16, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Further delineation of the oculoauricular syndrome phenotype: A new family with a novel truncating HMX1 mutation.
Authors: Abdel-Salam GMH, Abdel-Hamid MS, Mehrez MI, Kamal AM, Taher MB, Afifi HH Abstract Biallelic HMX1 mutations cause a very rare autosomal recessive genetic disorder termed as oculoauricular syndrome (OAS) because it is characterized only by the combination of eye and ear anomalies. We identified a new family bringing to three the total families reported with this disorder. Our proband presented with anteriorly protruded ears and malformed ear pinnae in association with microphthalmia, congenital cataract, microcornea, and iris and optic disc colobomata. Additionally, he had high and broad forehead with asymme...
Source: Ophthalmic Genetics - November 16, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

A new perspective on the genetics of keratoconus: why have we not been more successful?
Authors: Valgaeren H, Koppen C, Van Camp G Abstract Twin studies and family studies suggest an important genetic basis for keratoconus (KC). Involvement and association of several genes with the disease has been reported. Additionally, genes associated with central corneal thickness (CCT) and corneal curvature (CC) via genome-wide association studies (GWAS), also potentially underlie KC. Although a long list of genes has been reported for KC, the evidence for a pathogenic role for most genes remains limited. Furthermore, if the involvement of the reported genes in KC development can be proven, they only account for...
Source: Ophthalmic Genetics - November 9, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Investigation of CAV1/CAV2 rs4236601 and CDKN2B-AS1 rs2157719 in primary open-angle glaucoma patients from Brazil.
Authors: Nunes HF, Ananina G, Costa VP, Zanchin NIT, de Vasconcellos JPC, de Melo MB Abstract Large-scale genome-wide association studies have identified several susceptibility variants associated with the risk of primary open-angle glaucoma (POAG), among which rs4236601 (CAV1/CAV2) at chromosome 7q31 and rs2157719 at chromosome 9p21 (CDKN2B-AS1). The purpose of this study was to investigate whether these variants contribute to the incidence of POAG in a sample of the Brazilian Southeastern population and to determine the best-fitted genetic model for these single nucleotide polymorphisms (SNPs). A case-control stu...
Source: Ophthalmic Genetics - November 9, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Compound heterozygous variants in IFT140 as a cause of nonsyndromic retinitis pigmentosa.
Authors: Low T, Kostakis A, Balasubramanian M PMID: 29111861 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 9, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Ophthalmic abnormalities of Pai syndrome: A case report and review of literature.
Authors: Li E, Galvin JA PMID: 29116865 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 9, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

A novel deep intronic low penetrance RB1 variant in a retinoblastoma family.
Authors: Soliman SE, Racher H, Lambourne M, Matevski D, MacDonald H, Gallie B PMID: 29099630 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 5, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Successful conservative treatment of massive choroidal relapse in 2 retinoblastoma patients monitored by ultrasound biomicroscopy and/or spectral domain optic coherence tomography.
CONCLUSION: Isolated massive choroidal invasion can be treated conservatively with IVC or IAC in selected cases. SD-OCT, UBM, and B-scan ultrasonography are instrumental in the detection and follow-up of choroidal lesions. PMID: 29099668 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 5, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Analysis of the polymorphic variants of RAN and GEMIN3 genes and risk of Primary Open-Angle Glaucoma in the Polish population.
CONCLUSION: Our data has shown that GEMIN3 gene (rs197388) polymorphisms might be associated with a risk of POAG development in the Polish population. This is the first report evaluating the polymorphic variants of miRNA processing genes, RAN and GEMIN3, with a changed risk of glaucoma. PMID: 29095070 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 3, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Variability in clinical phenotypes of PRPF8-linked autosomal dominant retinitis pigmentosa correlates with differential PRPF8/SNRNP200 interactions.
CONCLUSIONS: Frame-shift mutations and nonconservative amino acid changes in PRPF8 typically cause severe clinical phenotypes. The conservative missense variant p.PRPF8-Arg2310Lys that is not altering the global charge of the C-terminal tail, and variants located at the basis of the C-terminal tail show milder clinical phenotypes, in accordance with functional data on PRPF8/SNRNP200 interactions in yeast. PMID: 29087248 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 2, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Interactions among different genetic loci in age-related macular degeneration.
CONCLUSION: Among different genotype combinations ARMS2-CFH and CFH-C3 combinations have the most significant levels of synergism and C3-CFI combination has the most significant level of antagonism in AMD patients. PMID: 29087762 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 2, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

New pathogenic variant in the FGF10 gene in the agenesis of lacrimal and salivary gland syndrome: Ophthalmological and genetic study.
We report the ophthalmological and genetic study of a 19-year-old woman and her relatives suffering from this syndrome. A new probably pathogenic variant is described in the FGF10 gene. PMID: 29053399 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - October 21, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract.
CONCLUSIONS: We have identified a recurrent splice-site mutation c.2826-9G>A in EPHA2 causing isolated posterior nuclear cataract, providing evidence of further phenotypic heterogeneity associated with this variant. PMID: 29039721 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - October 20, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Evaluation of sFLT1 protein levels in human eyes with the FLT1 rs9943922 polymorphism.
Authors: Chirco KR, Lewis CJ, Scheetz TE, Johnston RM, Tucker BA, Stone EM, Fingert JH, Mullins RF Abstract PURPOSE: Age-related macular degeneration (AMD) is a devastating disease characterized by central vision impairment in individuals with advanced age. Neovascular AMD is a form of end-stage disease in which choroidal vessel outgrowth occurs beneath the retina. While many hypotheses have been raised as to what triggers the formation of pathological choroidal neovascular membranes, the exact mechanism for their initiation remains unresolved. Polymorphisms in the FLT1 gene have previously been associated with neo...
Source: Ophthalmic Genetics - September 29, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Three presentations of CNS disease in patients with intraocular retinoblastoma at a tertiary medical center in the United States.
CONCLUSIONS: Although rare in developed countries, patients with intraocular retinoblastoma can present with a spectrum of CNS findings at the time of diagnosis. Magnetic resonance imaging of the brain and orbits is a critical component of the staging evaluation. PMID: 28949779 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - September 29, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

A novel dominant CRX mutation causes adult-onset macular dystrophy.
CONCLUSIONS: CRX mutations are associated with a variety of clinical phenotypes, including an adult-onset macular dystrophy that simulates BCAMD with a bull's eye macular lesion and fairly well preserved VA. PMID: 28945142 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - September 27, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent.
CONCLUSIONS: Screening patients diagnosed with IRD from Mexico identified six known mutations and three rare or novel potentially damaging variants in IMPDH1, USH2A, RPE65, ABCA4, and FAM161A genes that segregated with disease. PMID: 28945494 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - September 27, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

CNGB3 mutations cause severe rod dysfunction.
CONCLUSION: Although the defect that causes achromatopsia is primarily in the cone photoreceptors, our results reveal an accompanying disruption of rod function that is more severe than has previously been reported. The differential effects on the b-wave relative to the a-wave points to an inner-retinal locus for the disruption of rod function in these patients. PMID: 28929832 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - September 21, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research