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"Optic Nerve Hypoplasia"

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https://www.readbyqxmd.com/read/27891281/septooptic-dysplasia-with-an-associated-arachnoid-cyst
#1
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
#2
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
#3
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
#4
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...
November 2, 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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/27136085/increased-intraocular-pressure-in-a-patient-with-septooptic-dysplasia-a-case-report
#13
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
#14
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
#15
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
https://www.readbyqxmd.com/read/27014380/ocular-neurologic-and-systemic-findings-of-the-cases-with-optic-nerve-hypoplasia
#16
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
https://www.readbyqxmd.com/read/26974134/a-novel-otx2-gene-frameshift-mutation-in-a-child-with-microphthalmia-ectopic-pituitary-and-growth-hormone-deficiency
#17
Antonella Lonero, Maurizio Delvecchio, Paola Primignani, Roberto Caputo, Sara Bargiacchi, Silvana Penco, Lucia Mauri, Elena Andreucci, Maria Felicia Faienza, Luciano Cavallo
OTX2 mutations are reported in patients with eye maldevelopment and in some cases with brain or pituitary abnormalities. We describe a child carrying a novel OTX2 heterozygous mutation. She presented microphthalmia, absence of retinal vascularization, vitreal spots and optic nerve hypoplasia in the right eye and mild macular dystrophy in the left eye. Midline brain structures and cerebral parenchyma were normal, except for the ectopic posterior pituitary gland. OTX2 sequencing showed a heterozygous c.402del mutation...
May 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/26950571/comparison-of-the-deep-optic-nerve-structures-in-superior-segmental-optic-nerve-hypoplasia-and-primary-open-angle-glaucoma
#18
Eun Ji Lee, Kyoung Min Lee, Seung Hyen Lee, Tae-Woo Kim
PURPOSE: The purpose of this study was to characterize the microstructure of the deep optic nerve tissues in eyes with superior segmental optic nerve hypoplasia (SSOH) in comparison with that in primary open-angle glaucoma (POAG). METHODS: Thirty-five eyes with SSOH, 37 eyes with POAG, and 54 healthy control eyes underwent enhanced depth imaging (EDI) volume scanning of the optic nerve using spectral-domain optical coherence tomography (SD-OCT). POAG patients were matched with SSOH patients in terms of the thickness of the neuroretinal rim and the retinal nerve fiber layer in the superior sector...
August 2016: Journal of Glaucoma
https://www.readbyqxmd.com/read/26937243/efficacy-of-growth-hormone-replacement-on-anthropometric-outcomes-obesity-and-lipids-in-children-with-optic-nerve-hypoplasia-and-growth-hormone-deficiency
#19
Carly Stewart, Pamela Garcia-Filion, Cassandra Fink, Anna Ryabets-Lienhard, Mitchell E Geffner, Mark Borchert
BACKGROUND: Hypopituitarism and obesity are causes of major lifelong morbidity in patients with optic nerve hypoplasia (ONH). Growth hormone deficiency (GHD) affects the majority of children with ONH, though the degree of deficiency and variability of early growth patterns range from early severe retardation to normal initial growth. The utility of early GH replacement for improving anthropometric, body composition, and lipid outcomes in patients with ONH and GHD, especially those with normal initial height velocity, is unknown...
2016: International Journal of Pediatric Endocrinology
https://www.readbyqxmd.com/read/26882209/ocular-manifestations-of-x-linked-dominant-fam58a-mutation-in-toe-syndactyly-telecanthus-anogenital-and-renal-malformations-star-syndrome
#20
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
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