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Ophthalmic Genetics

Ujwala S Saboo, Devi Penke, Avinash Mahindrakar, Madhu Uddaraju, Chandrasekhar Sankurathri, Xin Gong, Chao Xing, V Vinod Mootha
No abstract text is available yet for this article.
September 26, 2016: Ophthalmic Genetics
Arif O Khan, Steffen Lenzner, Hanno J Bolz
PURPOSE: To document recessive FZD4-related familial exudative vitreoretinopathy. METHODS: Retrospective case series. RESULTS: Two brothers, the only two males among five siblings, had bilateral infantile retinal detachments and were referred for genetic counseling. Next-generation sequencing uncovered a homozygous FZD4 frameshift deletion in both affected brothers (c.40_49delCCCGGGGGCG; p.Pro14Serfs*44). None of the other immediate family members had clinical evidence for retinal disease, including the three family members who underwent confirmatory genetic testing and were found to be heterozygous for the mutation (both parents and one sister)...
September 26, 2016: Ophthalmic Genetics
Gloria López-Valverde, Elena Garcia-Martin, Javier Fernández-Mateos, Fernando Cruz-González, José M Larrosa-Povés, Vicente Polo-Llorens, Luis E Pablo-Júlvez
BACKGROUND: The purpose of this study was to attempt to determine if the presence of certain polymorphisms in the DNA repair genes (ERCC1, ERCC2, and XRCC1) is associated with pre-senile cataract development. MATERIALS AND METHODS: We performed a retrospective study over three groups of patients. The first group with pre-senile cataract was formed by 72 patients younger than 55 years with cataract surgery. The second group with senile cataract was formed by 101 patients older than 55 years with cataract surgery...
September 26, 2016: Ophthalmic Genetics
E Ullah, D Wu, L Madireddy, R Lao, P Ling-Fung Tang, E Wan, T Bardakjian, S Kopinsky, P-Y Kwok, A Schneider, S Baranzini, M Ansar, A Slavotinek
To investigate the genetic etiology of anophthalmia and microphthalmia, we used exome sequencing in a Caucasian female with unilateral microphthalmia and coloboma, bilateral optic nerve hypoplasia, ventricular and atrial septal defects, and growth delays. We found two sequence variants in SALL4 - c.[575C>A], predicting p.(Ala192Glu), that was paternally inherited, and c.[2053G>C], predicting p.(Asp685His), that was maternally inherited. Haploinsufficiency for SALL4 due to nonsense or frameshift mutations has been associated with acro-renal ocular syndrome that is characterized by eye defects including Duane anomaly and coloboma, in addition to radial ray malformations and renal abnormalities...
September 23, 2016: Ophthalmic Genetics
Cassandra Skinner, Virginia Miraldi Utz
Cataract is the most common cause of blindness and a major cause of visual impairment worldwide. As the world's population ages, cataract-induced visual impairment is of increasing prevalence, and treatment is limited to those with access to surgical care. While cataracts are mainly a disease of the elderly, infantile cataracts lead to lifelong visual impairment if untreated. Even in those with surgical treatment early in life, visual prognosis is often guarded. Consequently, there is an increasing impetus for alternative therapeutic modalities...
September 20, 2016: Ophthalmic Genetics
Maree Flaherty, Katie Geering, Stephanie Crofts, John Grigg
BACKGROUND: Sly syndrome (Mucopolysaccharidosis Type VII) is an autosomal recessive metabolic storage disorder due to mutations in the GUSB gene encoding the enzyme beta-glucuronidase. Deficiency of this lysosomal enzyme impairs the body's ability to break down the glycosaminoglycans - dermatan, heparan and chondroitin sulphate. Coarse facial features and macrocephaly are typically seen along with bony and skeletal abnormalities, including joint contractures and short stature. Widespread involvement occurs in many other tissues including cardiopulmonary, gastrointestinal, and neurological systems...
September 20, 2016: Ophthalmic Genetics
Markus N Preising, Michaela Abura, Melanie Jäger, Klaus-Heiko Wassill, Birgit Lorenz
PURPOSE: CLN3 is a rare lysosomal storage disorder. The majority of the patients suffer from neurological degeneration in the first decade of life leading to death in the second or third decade. One of the first symptoms is a rapid visual decline from retinal degeneration. The aim of this study was to correlate the retinal changes in CLN3 as seen with spectral domain optical coherence tomography (SD-OCT) with functional data in patients in the first years after the subjective onset of ocular symptoms...
August 2, 2016: Ophthalmic Genetics
Francisco Gonzalez, Lourdes Loidi, Jose M Abalo-Lojo
BACKGROUND: Ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome is a disorder resulting from anomalous embryonic development of ectodermal tissues. There is evidence that AEC syndrome is caused by mutations in the TP63 gene, which encodes the p63 protein. This is an important regulatory protein involved in epidermal proliferation and differentiation. MATERIALS AND METHODS: Genome sequencing was performed in DNA from peripheral blood leukocytes of a newborn with AEC syndrome and her parents...
August 2, 2016: Ophthalmic Genetics
Judy Savige, Yanyan Wang, Andrew Crawford, James Smith, Andrew Symons, Heather Mack, Kathy Nicholls, Diane Wilson, Deb Colville
BACKGROUND AND OBJECTIVES: The retinal features of Alport syndrome include a central and peripheral fleck retinopathy, temporal retinal thinning, and a macular hole. Here we describe further retinal abnormalities. METHODS: We identified a case of bull's eye maculopathy 20 years previously in a 68-year-old female, and reviewed archived retinal images from our cohort of X-linked (28 males, 28 females) or autosomal recessive (n = 13) Alport syndrome. All individuals had Alport syndrome confirmed on genetic testing or renal biopsy, were examined by an ophthalmologist, and underwent retinal imaging (KOWA non-mydriatic camera, Japan)...
August 2, 2016: Ophthalmic Genetics
Ping Shuai, Zimeng Ye, Yuping Liu, Chao Qu, Xiaoqi Liu, Huaichao Luo, Xiaoyun Feng, Xiulan Li, Yi Shi, Bo Gong
PURPOSE: This study was conducted to comprehensively evaluate the potential association of SKIV2L polymorphism rs429608 with age-related macular degeneration (AMD) through a meta-analysis. METHODS: We performed a literature search in EMBASE, PubMed, Web of Science, and the Chinese Biomedical Database for AMD genetic studies published before August 30, 2015. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated for single-nucleotide polymorphisms (SNPs) using fixed-effect models or random effect models according to between-study heterogeneity...
August 2, 2016: Ophthalmic Genetics
(no author information available yet)
No abstract text is available yet for this article.
August 2, 2016: Ophthalmic Genetics
Mélanie Fradin, Estelle Colin, Daniele Hannouche-Bared, Isabelle Audo, Jose Alain Sahel, Saskia Biskup, Wilfried Carré, Alban Ziegler, Christian Wilhelm, Agnès Guichet, Sylvie Odent, Dominique Bonneau
No abstract text is available yet for this article.
September 2016: Ophthalmic Genetics
Arif O Khan, Hanno J Bolz
PURPOSE: Recessive mutations in CDH3 cause "hypotrichosis with juvenile macular dystrophy," typically recognized by the presence of prominent dermatological features. We report novel phenotypic observations and associated mutations in four patients from three families, including one who did not have frank hypotrichosis. METHODS: Retrospective case series (2010-2014). RESULTS: Four affected individuals from three consanguineous Arabian families were identified...
September 2016: Ophthalmic Genetics
Tuba Celik
Dermoid cysts are one of the most common non-inflammatory space-occupying orbital lesions in the pediatric population. They are ectodermal cysts which may contain squamous epithelium with dermal contents such as skin, hair follicles, sebaceous glands, or sweat glands. Dermoid cyts are often innocent, however complications such as inflammation of the fistula or preseptal cellulitis are occasionally seen. We present a case of a 6-year-old girl with a glabellar dermoid cyst and describe the appropriate investigations and definitive treatment...
September 2016: Ophthalmic Genetics
Faruk H Orge, Suhail A Dar, Christie N Blackburn, Sarah J Grimes-Hodges, Anna L Mitchell
PURPOSE: To report the newest ophthalmic manifestations of a mother-daughter pair diagnosed with toe syndactyly, telecanthus, anogenital and renal malformations (STAR) syndrome, a rare X-linked developmental disorder. METHODS: The medical and ophthalmic records were reviewed for a mother-daughter pair diagnosed with FAM58A confirmed STAR syndrome on chromosome Xq28. RESULTS: The mother at birth had left foot syndactyly, telecanthus, anal stenosis, and clitoromegaly and was told at 19 she had a hypoplastic left kidney...
September 2016: Ophthalmic Genetics
Nils Rahner, Gudrun Nuernberg, David Finis, Peter Nuernberg, Brigitte Royer-Pokora
BACKGROUND: To identify the disease-causing mutation in a consanguineous family of Morrocan origin with syndromic autosomal recessive (ar) cone-rod dystrophy (CRD) in two patients and describe genotype-phenotype correlations. MATERIALS AND METHODS: Genome-wide homozygosity mapping and direct sequencing of C8orf37, located in a homozygous interval, was performed in the family. mRNA analysis revealed the effect of the newly identified splice-site mutation. For a comparative analysis phenotypic and genetic data of C8orf37 mutations were extracted from published cases...
September 2016: Ophthalmic Genetics
Horbelys O Guzmán, Aura M Palacios, María I De Almada, René A Utrera
BACKGROUND: Macanao's population in Venezuela has perhaps the greatest incidence of USH1B known in Latin America (79 cases per 100,000 population); however, until now no mutation in the MYO7A gene had been reported for this population. MATERIALS AND METHODS: This study aimed to evaluate the entire coding region of the MYO7A gene by direct sequencing of PCR products obtained from patients clinically diagnosed with USH1B. RESULTS: A novel mutation named c...
September 2016: Ophthalmic Genetics
Tal J Rubinstein, Adam C Weber, Elias I Traboulsi
The embryology of the eyelid is a complex process that includes interactions between the surface ectoderm and mesenchymal tissues. In the mouse and human, the eyelids form and fuse before birth; they open prenatally in the human and postnatally in the mouse. In the mouse, cell migration is stimulated by different growth factors such as FGF10, TGF-α, Activin B, and HB-EGF. These growth factors modulate downstream BMP4 signaling, the ERK cascade, and JNK/c-JUN. Several mechanisms, such as the Wnt/β-catenin signaling pathway, may inhibit and regulate eyelid fusion...
September 2016: Ophthalmic Genetics
Gabriela E Jones, Lisa Robertson, Paul Warman, Emily V Craft, Lara Cresswell, Pradeep C Vasudevan
No abstract text is available yet for this article.
September 2016: Ophthalmic Genetics
Aleksandra V Rachitskaya, Alex Yuan
This review focuses on a description of the Argus II retinal prosthesis system (Argus II; Second Sight Medical Products, Sylmar, CA) that was approved for humanitarian use by the FDA in 2013 in patients with retinitis pigmentosa with bare or no light perception vision. The article describes the components of Argus II, the studies on the implant, and future directions.
September 2016: Ophthalmic Genetics
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