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optic nerve hypoplasia

Arvin R Wali, David R Santiago-Dieppa, Jeffrey A Steinberg, Ali Alattar, Vincent J Cheung, Royya Modir, Alexander A Khalessi, J Scott Pannell
Neurofibromatosis type 1 (NF1) is associated with systemic vascular disease, and it can also affect intracranial vasculature in a small percentage of patients. Very rarely, NF1 may co-present with hypoplasia of the internal carotid artery (ICA). Prior reports have documented NF1 with bilateral optic gliomas and a unilateral hypoplastic internal carotid artery; however, we report a case with the aforementioned findings in addition to a right-sided lentiform mass. This case report further suggests a common congenital pathway related to neurofibromin loss of function resulting in both nerve sheath tumors and cerebrovascular anomalies...
August 26, 2016: Curēus
Thomas Welton, Sarim Ather, Frank A Proudlock, Irene Gottlob, Robert A Dineen
Albinism is a group of congenital disorders of the melanin synthesis pathway. Multiple ocular, white matter and cortical abnormalities occur in albinism, including a greater decussation of nerve fibres at the optic chiasm, foveal hypoplasia and nystagmus. Despite this, visual perception is largely preserved. It was proposed that this may be attributable to reorganisation among cerebral networks, including an increased interhemispheric connectivity of the primary visual areas. A graph-theoretic model was applied to explore brain connectivity networks derived from resting-state functional and diffusion-tensor magnetic resonance imaging data in 23 people with albinism and 20 controls...
September 29, 2016: Human Brain Mapping
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
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
Cheng Zhe Zu, Masato Kuroki, Ayano Hirako, Takashi Takeuchi, Satoshi Furukawa, Akihiko Sugiyama
Pregnant rats were treated intraperitoneally with a single dose of methotrexate (MTX) 90 mg/kg on gestation day (GD) 13, and fetal eyeballs were examined time-dependently from GD 13.5 to 15.5. Throughout the experimental period, the inner plate of the ocular cup in the MTX group was significantly thinner than that in the control group. In the inner plate of the ocular cup on GD 15 and 15.5, whereas a developed ganglion cell layer was observed in the control group, the ganglion cell layer in the MTX group was undeveloped and indistinguishable...
July 2016: Journal of Toxicologic Pathology
Deepta Ghate, Vettaikorumakankav Vedanarayanan, Abdulbaset Kamour, James J Corbett, Sachin Kedar
BACKGROUND: It is difficult to predict the neurologic outcome and ambulatory status in children with perinatal neurologic insult until 2-5years age. This study aims to correlate clinical optic nerve head (ONH) findings-cupping, pallor and hypoplasia, with gestational period and neurologic (motor) outcomes in patients with cerebral palsy (CP) from perinatal insults. METHODS: 54 consecutive patients with CP from perinatal insults were enrolled. Patients with intraocular disease, retinopathy of prematurity and hydrocephalus were excluded...
September 15, 2016: Journal of the Neurological Sciences
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
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
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
Anna Ryabets-Lienhard, Carly Stewart, Mark Borchert, Mitchell E Geffner
No abstract text is available yet for this article.
August 2016: Advances in Pediatrics
Helena Lee, Frank A Proudlock, Irene Gottlob
PURPOSE: Optical coherence tomography (OCT) has revolutionized the diagnosis and management of adult retinal and optic nerve disease. Children were deprived of this technology until the recent development of handheld spectral-domain OCT (HH-SDOCT). In this article, we review the applications of OCT imaging in pediatric ophthalmology. METHODS: This study was a review of the literature. RESULTS: The acquisition and interpretation of pediatric tomograms differ significantly from those for adults, with adjustments needed to account for the shorter axial lengths, higher refractive errors, and ongoing retinal and optic nerve development in the pediatric eye...
July 1, 2016: Investigative Ophthalmology & Visual Science
Carlos Menezes, Isabel Ribeiro, Pedro Coelho, Catarina Mateus, Carla Teixeira
INTRODUCTION: Optic disc hypoplasia is a common feature in fetal alcohol syndrome. Thus, we aimed to evaluate the optic disc morphology changes and the peripapillary retinal nerve fiber layer thickness in these patients. MATERIAL AND METHODS: We performed spectral-domain optical coherence tomography in a cohort of 11 patients (22 eyes) with fetal alcohol syndrome and in an age-matched control group. We evaluated optic nerve head parameters (optic disc area and diameter, rim area, cup/disc horizontal and vertical ratios) and peripapillary retinal nerve fiber layer thickness...
April 2016: Acta Médica Portuguesa
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
Marko Culjat, Stephen E Darling, Vivek R Nerurkar, Natascha Ching, Mukesh Kumar, Sarah K Min, Rupa Wong, Leon Grant, Marian E Melish
Recent Zika virus (ZIKV) outbreaks have been associated with an increased incidence of neonatal microcephaly. Subsequently, tropism for the brain was established in human fetal brain tissue. We present the first congenital ZIKV infection in the United States, confirmed by high ZIKV immunoglobulin M antibody titers in serum and cerebrospinal fluid. The phenotypic characteristics of the patient fall within fetal brain disruption sequence, suggesting impaired brain development in the second half of gestation. Brain imaging revealed an almost agyric brain with diffuse parenchymal calcifications, hydrocephalus ex vacuo, and cerebellar hypoplasia...
September 15, 2016: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
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)...
May 10, 2016: Clinical & Experimental Optometry: Journal of the Australian Optometrical Association
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
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
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...
2016: Acta Neuropathologica Communications
Eyyup Karahan, Ayse Tulin Berk
AIM: To describe the associated ocular, neurologic, and systemic findings in a population of children with optic nerve hypoplasia (ONH) and to evaluate the relationship between ocular signs and neurologic findings. METHOD: A retrospective chart review of 53 patients with the diagnosis of ONH seen between December 1998 and September 2012 was performed. All neurodevelopmental anomalies, neuroradiologic findings, endocrinologic and systemic findings were recorded. Poor vision was defined as the visual acuity poorer than logMAR 1...
2016: Open Ophthalmology Journal
M N Preising, B Lorenz
From the ophthalmological view, albinism is a disorder of reduced pigmentation of the retinal and irdial pigment epithelium and the iris and choroid stroma. The reduced pigmentation is accompanied by morphological changes in the retina and the optic nerve. The functional relationship of these morphological changes is not yet well understood. This review summarises the genetic causes of reduced pigment synthesis and impaired pigment distribution, and discusses the variability of expression of albinism symptoms, in the light of other disorders affecting retinal development...
March 2016: Klinische Monatsblätter Für Augenheilkunde
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