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"Optic Nerve Hypoplasia"

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https://www.readbyqxmd.com/read/28205530/retinal-structure-and-function-in-eyes-with-optic-nerve-hypoplasia
#1
Satoshi Katagiri, Sachiko Nishina, Tadashi Yokoi, Masashi Mikami, Yuri Nakayama, Michiko Tanaka, Noriyuki Azuma
We investigated retinal structure and function in eyes with optic nerve hypoplasia (ONH). Twenty-nine eyes of 18 patients with ONH and 21 eyes of 21 control patients were analyzed. Spectral-domain optical coherence tomography (SD-OCT), full-field electroretinography (FF-ERG), and focal macular ERG (FM-ERG) were performed. SD-OCT analysis of the macular region showed significant ganglion cells complex (GCC) thinning nasally and temporally (P < 0.05), but the thickness from the inner nuclear layer (INL) to the retinal pigment epithelium (RPE) became thinner only nasally (P < 0...
February 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28121717/normal-tension-glaucoma-masqueraders-detection-using-optical-coherence-tomography
#2
Debbie S Kuo, Sanjay Asrani
PURPOSE: Optical coherence tomography (OCT) has become an important tool in the diagnosis and management of glaucoma; however, there can be overlap in the OCT findings between glaucoma and other diseases. We describe the clinical examination finings and interpretation of OCT imaging that led to the diagnosis of glaucoma masqueraders in a clinical case series. MATERIALS AND METHODS: Four adult patients seen in the glaucoma clinic at the Duke Eye Center were included in a retrospective observational case series...
January 24, 2017: Journal of Glaucoma
https://www.readbyqxmd.com/read/28078992/smoking-and-eye-pathologies-a-systemic-review-part-ii-retina-diseases-uveitis-optic-neuropathies-thyroid-associated-orbitopathy
#3
Małgorzata Nita, Andrzej Grzybowski
BACKGROUND: Tobacco smoking has detrimental influence on human health. AIM: The analysis of influence of tobacco smoking on retina diseases, uveitis, optic neuropathies, and thyroid-associated orbitopathy in adults and children. METHODS: A comprehensive review of the literature performed through MEDLINE and PubMed searches, covering the years 2000-2016. RESULTS: In adults, tobacco smoking is a strong risk factor for age-related macular degeneration, polypoidal choroidal vasculopathy, uveitis and inflamed cystoid macular edema as well as Grave`s ophthalmopathy...
January 10, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28050731/septo-optic-dysplasia
#4
Vinod Kumar, Anjana Karunakaran, Jineesh Valakada
A seven-month-old child with congenital poor vision was referred for evaluation. Fundus examination revealed bilateral optic nerve hypoplasia with disc macula distance of approximately ten disc diameters. Neuroimaging revealed finding consistent with septo-optic dysplasia.
January 3, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/27935818/prenatal-ethanol-exposure-in-mice-phenocopies-cdon-mutation-by-impeding-shh-function-in-the-etiology-of-optic-nerve-hypoplasia
#5
Benjamin M Kahn, Tanya S Corman, Korah Lovelace, Mingi Hong, Robert S Krauss, Douglas J Epstein
Septo-optic dysplasia (SOD) is a congenital disorder characterized by optic nerve, pituitary and midline brain malformations. The clinical presentation of SOD is highly variable with a poorly understood etiology. The majority of SOD cases are sporadic, but in rare instances inherited mutations have been identified in a small number of transcription factors, some of which regulate the expression of Sonic hedgehog (Shh) during mouse forebrain development. SOD is also associated with young maternal age, suggesting that environmental factors, including alcohol consumption at early stages of pregnancy, might increase the risk of developing this condition...
January 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/27891281/septooptic-dysplasia-with-an-associated-arachnoid-cyst
#6
Skyler V McLaurin-Jiang, Julie K Wood, David F Crudo
A 4-week-old male infant presented with hypothermia, hypoglycemia, and hyperbilirubinemia. His medical history was remarkable for hydrocephalus secondary to an arachnoid cyst, intermittent hypoglycemia, hypothermia, and poor feeding requiring nasogastric tube for nutrition. Physical exam revealed retrognathia, mild hypotonia, micropenis, and clinodactyly. Ophthalmologic exam demonstrated bilateral optic nerve hypoplasia (ONH). Laboratory data confirmed inadequate cortisol and growth hormone response to hypoglycemia, a low thyroxine level, and direct hyperbilirubinemia...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27882486/vep-analysis-methods-in-children-with-optic-nerve-hypoplasia-relationship-to-visual-acuity-and-optic-disc-diameter
#7
John P Kelly, James O Phillips, Avery H Weiss
PURPOSE: Assessing vision in young children with optic nerve hypoplasia (ONH) is challenging due to multi-directional infantile nystagmus, the range of optic nerve loss, and cognitive delay. This study examined visual evoked potential (VEP) responses and averaging techniques in children with ONH. The assumption is that EEG epochs with inconsistent temporal phase would be associated with nystagmus, signal reduction due to axon loss, and visual inattention. METHODS: A retrospective chart review was performed on 44 children (average age 2...
November 23, 2016: Documenta Ophthalmologica. Advances in Ophthalmology
https://www.readbyqxmd.com/read/27843434/peters-anomaly-in-twins-a-case-report-of-a-rare-incident-with-novel-comorbidities
#8
Hashem S Almarzouki, Alaa A Tayyib, Hassan A Khayat, Raed E Alsulami, Saeed M Alzahrani, Abdulaziz S Alkahtani, Loai S Alghifees
INTRODUCTION: Peters anomaly is a rare developmental malformation involving the anterior segment of the eye, which culminates in amblyopia or congenital blindness. Multiple ocular and/or systemic malformations have been observed with this anomaly, and novel comorbidities continue to be reported. CASE PRESENTATION: The probands were monozygotic twin boys (twin I and twin II) born to consanguineous parents at 36 weeks of gestation. Coarse facial features and deep-seated eyes were noted at birth...
September 2016: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/27804958/dominant-variants-in-the-splicing-factor-puf60-cause-a-recognizable-syndrome-with-intellectual-disability-heart-defects-and-short-stature
#9
Salima El Chehadeh, Wilhelmina S Kerstjens-Frederikse, Julien Thevenon, Paul Kuentz, Ange-Line Bruel, Christel Thauvin-Robinet, Candace Bensignor, Hélène Dollfus, Vincent Laugel, Jean-Baptiste Rivière, Yannis Duffourd, Caroline Bonnet, Matthieu P Robert, Rodica Isaiko, Morgane Straub, Catherine Creuzot-Garcher, Patrick Calvas, Nicolas Chassaing, Bart Loeys, Edwin Reyniers, Geert Vandeweyer, Frank Kooy, Miroslava Hančárová, Marketa Havlovicová, Darina Prchalová, Zdenek Sedláček, Christian Gilissen, Rolph Pfundt, Jolien S Klein Wassink-Ruiter, Laurence Faivre
Verheij syndrome, also called 8q24.3 microdeletion syndrome, is a rare condition characterized by ante- and postnatal growth retardation, microcephaly, vertebral anomalies, joint laxity/dislocation, developmental delay (DD), cardiac and renal defects and dysmorphic features. Recently, PUF60 (Poly-U Binding Splicing Factor 60 kDa), which encodes a component of the spliceosome, has been discussed as the best candidate gene for the Verheij syndrome phenotype, regarding the cardiac and short stature phenotype...
January 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27661448/two-missense-mutations-in-sall4-in-a-patient-with-microphthalmia-coloboma-and-optic-nerve-hypoplasia
#10
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
https://www.readbyqxmd.com/read/27660803/automated-and-simultaneous-fovea-center-localization-and-macula-segmentation-using-the-new-dynamic-identification-and-classification-of-edges-model
#11
Sinan Onal, Xin Chen, Veeresh Satamraju, Maduka Balasooriya, Humeyra Dabil-Karacal
Detecting the position of retinal structures, including the fovea center and macula, in retinal images plays a key role in diagnosing eye diseases such as optic nerve hypoplasia, amblyopia, diabetic retinopathy, and macular edema. However, current detection methods are unreliable for infants or certain ethnic populations. Thus, a methodology is proposed here that may be useful for infants and across ethnicities that automatically localizes the fovea center and segments the macula on digital fundus images. First, dark structures and bright artifacts are removed from the input image using preprocessing operations, and the resulting image is transformed to polar space...
July 2016: Journal of Medical Imaging
https://www.readbyqxmd.com/read/27529609/oct-in-a-myelinated-retinal-nerve-fiber-syndrome-with-reduced-vision
#12
Sherry J Bass, Jacqueline Westcott, Jerome Sherman
PURPOSE: The prognosis of success with vision therapy in refractive "amblyopia" associated with the syndrome of myelinated nerve fibers (MRNF), optic disc hypoplasia, and myopia is reported to be poorer than that of anisomyopic amblyopia without these features. The reason for the poorer prognosis has not been well understood. The purpose of this study was to perform spectral domain (SD) ocular coherence tomography (OCT) to determine if there is a structural etiology that may explain the poorer prognosis...
October 2016: Optometry and Vision Science: Official Publication of the American Academy of Optometry
https://www.readbyqxmd.com/read/27524922/a-case-of-optic-nerve-hypoplasia-and-anterior-segment-abnormality-associated-with-facial-cleft
#13
Tomoko Miyake, Shota Kojima, Tetsuya Sugiyama, Mari Ueki, Jun Sugasawa, Hidehiro Oku, Kensuke Tajiri, Yuka Shigemura, Koichi Ueda, Atsuko Harada, Mami Yamasaki, Takumi Yamanaka, Hidetsuna Utsunomiya, Tsunehiko Ikeda
INTRODUCTION: The incidence of facial cleft is rare and ranges between 1.43 and 4.85 per 100,000 births. To date, there have been few reports of detailed ophthalmologic examinations performed in cases of facial cleft. Here, we report a case of optic-nerve hypoplasia and anterior segment abnormality associated with facial cleft. CASE REPORT: A 9-day-old female infant was delivered by cesarian section at 34 weeks of gestational age (the second baby of twins) and weighed 2,276 g upon presentation...
2016: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/27521173/ocular-manifestations-of-noonan-syndrome-a-prospective-clinical-and-genetic-study-of-25-patients
#14
Dorothée C van Trier, Anna M C Vos, Renske W Draaijer, Ineke van der Burgt, Jos M Th Draaisma, Johannes R M Cruysberg
PURPOSE: To determine the full spectrum of ocular manifestations in patients with Noonan syndrome (NS). DESIGN: Prospective cross-sectional clinical and genetic study in a tertiary referral center. PARTICIPANTS: Twenty-five patients with NS (mean age, 14 years; range, 8 months-25 years) clinically diagnosed by validated criteria. METHODS: All patients were examined by the same team following a detailed study protocol...
October 2016: Ophthalmology
https://www.readbyqxmd.com/read/27426898/the-optic-nerve-hypoplasia-spectrum-review-of-the-literature-and-clinical-guidelines
#15
REVIEW
Anna Ryabets-Lienhard, Carly Stewart, Mark Borchert, Mitchell E Geffner
No abstract text is available yet for this article.
August 2016: Advances in Pediatrics
https://www.readbyqxmd.com/read/27264673/a-novel-rasopathy-caused-by-recurrent-de-novo-missense-mutations-in-ppp1cb-closely-resembles-noonan-syndrome-with-loose-anagen-hair
#16
Karen W Gripp, Kimberly A Aldinger, James T Bennett, Laura Baker, Jessica Tusi, Nina Powell-Hamilton, Deborah Stabley, Katia Sol-Church, Andrew E Timms, William B Dobyns
Noonan syndrome is a rasopathy caused by mutations in multiple genes encoding components of the RAS/MAPK pathway. Despite its variable phenotype, limited genotype-phenotype correlations exist. Noonan syndrome with loose anagen hair (NS-LAH) is characterized by its distinctive hair anomalies, developmental differences, and structural brain abnormalities and is caused by a single recurrent missense SHOC2 mutation. SHOC2 forms a complex with protein phosphatase 1 (PP1C). Protein phosphatases counterbalance kinases and control activation of signaling proteins, such as the mitogen-activated protein kinases of the RAS/MAPK pathway...
September 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27161391/clinical-features-of-posterior-microphthalmos-associated-with-papillomacular-fold-and-high-hyperopia
#17
Shin Hae Park, Ye Jin Ahn, Sun Young Shin, Young Chun Lee
BACKGROUND: The aim was to evaluate the characteristic clinical features of posterior microphthalmos. METHODS: Medical records of four patients (eight eyes) between the ages of three and 31 years with posterior microphthalmos were reviewed retrospectively. Thorough ocular examinations were performed, including visual acuity, intraocular pressure, ocular alignment, axial length, cycloplegic refraction, slitlamp biomicroscopy of the anterior segment and fundus and spectral-domain optical coherent tomography (SD-OCT)...
November 2016: Clinical & Experimental Optometry: Journal of the Australian Optometrical Association
https://www.readbyqxmd.com/read/27136085/increased-intraocular-pressure-in-a-patient-with-septooptic-dysplasia-a-case-report
#18
Jan P Ulloa-Padilla, Natalio J Izquierdo, Armando Oliver
INTRODUCTION: Previous studies have described septooptic dysplasia (SOD) to describe patients who have optic nerve hypoplasia, the absence of septum pellucidum, and pituitary hypoplasia. Other rare ophthalmic associations have been described, such as low-tension glaucoma. We report the ocular findings of a patient with SOD who had high intraocular pressure (IOP) and glaucoma as a part of the syndrome. OBJECTIVES: To report the ocular findings in a Puerto Rican patient with SOD and increased IOP...
July 2016: Journal of Glaucoma
https://www.readbyqxmd.com/read/27081561/genotype-phenotype-correlation-of-pax6-gene-mutations-in-aniridia
#19
Tadashi Yokoi, Sachiko Nishina, Maki Fukami, Tsutomu Ogata, Katsuhiro Hosono, Yoshihiro Hotta, Noriyuki Azuma
The objective of this study was to investigate the genotype-phenotype correlation of the PAX6 gene in aniridia. We clinically examined 5 families and 16 sporadic patients with aniridia. We performed chromosomal analysis and PCR analysis of the PAX6 gene using patient genomic DNA. Chromosomal analysis demonstrated deletions at 11p13 in one allele in four sporadic patients. Seven nonsense mutations, two frameshifts (two insertions), four splice junction errors and two missense mutations were found, and all were heterozygous...
2016: Human Genome Variation
https://www.readbyqxmd.com/read/27036546/x-linked-intellectual-disability-gene-cask-regulates-postnatal-brain-growth-in-a-non-cell-autonomous-manner
#20
Sarika Srivastava, Ryan McMillan, Jeffery Willis, Helen Clark, Vrushali Chavan, Chen Liang, Haiyan Zhang, Matthew Hulver, Konark Mukherjee
The phenotypic spectrum among girls with heterozygous mutations in the X-linked intellectual disability (XLID) gene CASK (calcium/calmodulin-dependent serine protein kinase) includes postnatal microcephaly, ponto-cerebellar hypoplasia, seizures, optic nerve hypoplasia, growth retardation and hypotonia. Although CASK knockout mice were previously reported to exhibit perinatal lethality and a 3-fold increased apoptotic rate in the brain, CASK deletion was not found to affect neuronal physiology and their electrical properties...
March 31, 2016: Acta Neuropathologica Communications
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