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foveal hypoplasia

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https://www.readbyqxmd.com/read/28339057/gpr143-mutations-in-chinese-patients-with-ocular-albinism-type-1
#1
Xiuhua Jia, Jin Yuan, Xiaoyun Jia, Shiqi Ling, Shiqiang Li, Xiangming Guo
The aim of the present study was to evaluate mutations of the G protein-coupled receptor 143 (GPR143) gene for ocular albinism type 1 (OA1) in Chinese patients. For the current study, 8 patients with OA1 were selected from the database of ocular genetic diseases. Genomic DNA of OA1 was prepared from venous leukocytes collected from the patients. Cycle sequencing was used to analyze the exons and adjacent introns of GPR143. The variation detected was analyzed by bidirectional DNA sequencing and further evaluated in 96 controls using heteroduplex‑single strand conformational polymorphism analysis...
March 23, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28300742/newly-identified-paired-box-6-mutation-of-variant-familial-aniridia-congenital-iris-ectropion-with-foveal-hypoplasia
#2
Woo Jin Kim, Jong Ha Kim, Nam Chun Cho
Congenital aniridia is a kind of eye disease characterized by complete or partial hypoplasia of the iris and is associated with other ocular anomalies including corneal opacity, glaucoma, and foveal hypoplasia. Heterozygous mutation of paired box 6 (PAX6) gene was identified in most cases of aniridia, with iatrogenic mutations accounting for about two-third of the cases and chromosomal rearrangements accounting for the other one-third. We report rare cases of variant aniridia, congenital iris ectropion associated with foveal hypoplasia in both a woman and her son with a mutation of PAX6 gene...
January 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28283280/foveal-hypoplasia-in-patients-with-stickler-syndrome
#3
Itsuka Matsushita, Tatsuo Nagata, Takaaki Hayashi, Kenichi Kimoto, Toshiaki Kubota, Masahito Ohji, Shunji Kusaka, Hiroyuki Kondo
PURPOSE: To determine the microstructure of the fovea in patients with Stickler syndrome using imaging by spectral-domain optical coherence tomography (SD OCT) and swept-source OCT. DESIGN: Retrospective case series study. PARTICIPANTS: A total of 39 eyes of 25 patients with genetically confirmed Stickler syndrome were studied. METHODS: All of the patients had mutations in the COL2A1 gene and were diagnosed with Stickler syndrome...
March 7, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28211458/molecular-genetic-and-clinical-evaluation-of-three-chinese-families-with-x-linked-ocular-albinism
#4
Xuan Zou, Hui Li, Lizhu Yang, Zixi Sun, Zhisheng Yuan, Huajin Li, Ruifang Sui
X-linked ocular albinism (OA1) is an X-linked inherited disease characterized by hypopigmentation of the fundus and nystagmus. Our study performed mutation analysis of the G protein-coupled receptor 143 gene (GPR143) and assessed the clinical characteristics of OA1 in three Chinese families. Three novel mutations, c.333_360+14del42insCTT, c.276G>A (p.W92X), and c.793C>T (p.R265X), were identified in GPR143 by PCR followed by Sanger sequencing in these families. All affected individuals presented with nystagmus, photophobia, poor visual acuity, foveal hypoplasia and varying degrees of hypopigmentation of the fundus...
February 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28205530/retinal-structure-and-function-in-eyes-with-optic-nerve-hypoplasia
#5
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/28192564/a-japanese-family-with-autosomal-dominant-oculocutaneous-albinism-type-4
#6
Ryoko Oki, Kisaburo Yamada, Satoko Nakano, Kenichi Kimoto, Ken Yamamoto, Hiroyuki Kondo, Toshiaki Kubota
Purpose: We report the clinical characteristics of a Japanese family with autosomal dominant oculocutaneous albinism and a SLC45A2 gene mutation. Methods: A total of 16 members of a Japanese family with general hypopigmentation and foveal hypoplasia underwent detailed clinical examinations. We evaluated the severity of foveal hypoplasia using spectral-domain optical coherence tomography (SD-OCT) and graded it according to the criteria of Thomas et al. DNA was extracted from 17 family members and used for genome-wide single nucleotide polymorphism genotyping and linkage analysis...
February 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28159970/the-clinical-phenotype-of-cnga3-related-achromatopsia-pretreatment-characterization-in-preparation-of-a-gene-replacement-therapy-trial
#7
Ditta Zobor, Annette Werner, Franco Stanzial, Francesco Benedicenti, Günther Rudolph, Ulrich Kellner, Christian Hamel, Sten Andréasson, Gergely Zobor, Torsten Strasser, Bernd Wissinger, Susanne Kohl, Eberhart Zrenner
Purpose: The purpose of this study was to clinically characterize patients with CNGA3-linked achromatopsia (CNGA3-ACHM) in preparation of a gene therapy trial. Methods: Thirty-six patients (age 7-56 years) with complete (cACHM) or incomplete (iACHM) CNGA3-ACHM were examined, including detailed psychophysical tests, extended electrophysiology, and assessment of morphology by fundus autofluorescence and spectral-domain optical coherence tomography (SD-OCT). Results: Mean best-corrected visual acuity was 0...
February 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28115293/foveal-hypoplasia-in-short-stature-with-optic-atrophy-and-pelger-hu%C3%A3-t-anomaly-syndrome-with-neuroblastoma-amplified-sequence-nbas-gene-mutation
#8
Jun Woo Park, Soo Jung Lee
Short stature with optic atrophy and Pelger-Huët anomaly (SOPH) syndrome has been known to cause optic atrophy and achromatopsia resulting from stationary cone dysfunction. This report describes foveal hypoplasia in a brother and sister with SOPH syndrome, which is associated with defects in the neuroblastoma amplified sequence (NBAS) gene. As NBAS gene may play an important role in retinal homeostasis, patients with SOPH should be monitored carefully for ocular abnormalities.
January 20, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28002560/clinical-characteristics-mutation-spectrum-and-prevalence-of-%C3%A3-land-eye-disease-incomplete-congenital-stationary-night-blindness-in-denmark
#9
Marianne N Hove, Kevser Z Kilic-Biyik, Alana Trotter, Karen Grønskov, Birgit Sander, Michael Larsen, Joseph Carroll, Torben Bech-Hansen, Thomas Rosenberg
Purpose: To assess clinical characteristics, foveal structure, mutation spectrum, and prevalence rate of Åland eye disease (AED)/incomplete congenital stationary night blindness (iCSNB). Methods: A retrospective survey included individuals diagnosed with AED at a national low-vision center from 1980 to 2014. A subset of affected males underwent ophthalmologic examinations including psychophysical tests, full-field electroretinography, and spectral-domain optical coherence tomography...
December 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27977835/optical-coherence-tomography-angiography-in-foveal-hypoplasia
#10
Fatemeh Bazvand, Reza Karkhaneh, Ramak Roohipoor, Mohammad-Bagher Rajabi, Nazanin Ebrahimiadib, Samaneh Davoudi, Bobeck S Modjtahedi
BACKGROUND AND OBJECTIVE: A retrospective case series reporting optical coherence tomography angiography (OCTA) findings in foveal hypoplasia. PATIENTS AND METHODS: Patients with foveal hypoplasia who presented to the authors' tertiary eye center. Cases of foveal hypoplasia that underwent OCTA were reviewed, and the clinical histories as well as imaging findings were summarized. RESULTS: Three patients presented to the authors' eye center for evaluation of foveal hypoplasia and underwent OCTA: a 5-year-old girl, a 40-year-old woman, and a 22-year-old man...
December 1, 2016: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/27977831/spectral-domain-optical-coherence-tomography-in-older-patients-with-history-of-retinopathy-of-prematurity
#11
Aristomenis Thanos, Yoshihiro Yonekawa, Bozho Todorich, Natalie Huang, Kimberly A Drenser, George A Williams, Michael T Trese, Antonio Capone
BACKGROUND AND OBJECTIVE: To characterize the in vivo microstructural features of patients with history of retinopathy of prematurity (ROP). PATIENTS AND METHODS: A single-center, retrospective imaging case series during which a chart review was performed of consecutive patients with history of ROP who underwent spectral-domain optical coherence tomography (SD-OCT) with or without enhanced depth imaging. Eyes with time-domain OCT, no light perception, or uninterpretable SD-OCT images were excluded...
December 1, 2016: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/27899366/optical-coherence-tomography-angiography-of-foveal-hypoplasia
#12
Kaivon Pakzad-Vaezi, Pearse A Keane, João Nobre Cardoso, Catherine Egan, Adnan Tufail
AIMS: To discuss foveal development in the context of detailed retinal vasculature imaging in foveal hypoplasia using optical coherence tomography angiography. METHODS: In this case series, the optical coherence tomography angiography results of four patients with idiopathic foveal hypoplasia and two patients with foveal hypoplasia secondary to oculocutaneous albinism are presented. RESULTS: Cases with intact visual acuity demonstrated lower grades of foveal hypoplasia on optical coherence tomography, while those with poor vision demonstrated high grades of foveal hypoplasia...
November 29, 2016: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/27685500/foveal-hypoplasia-diagnosis-using-optical-coherence-tomography-angiography
#13
José L Sánchez-Vicente, Miguel Contreras-Díaz, Laura Llerena-Manzorro, Trinidad Rueda, Fernando López-Herrero, Fredy E Molina-Socola, Ana Muñoz-Morales, Enrique Rodríguez de la Rúa-Franch
PURPOSE: To describe the clinical presentations and image findings of a patient with foveal hypoplasia. METHODS: Observational case report of one patient. The clinical presentation of the patient was documented by fluorescein angiography, optical coherence tomography, and optical coherence tomography angiography. RESULTS: A 55-year-old healthy white female with bilateral foveal hypoplasia without nystagmus was presented. There were no signs suggestive of ocular albinism...
September 28, 2016: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/27684406/altered-whole-brain-connectivity-in-albinism
#14
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
https://www.readbyqxmd.com/read/27281830/electroretinography-and-pupillography-in-unilateral-foveal-hypoplasia
#15
Ken Asakawa, Hitoshi Ishikawa
The authors describe a 3-year-old boy with unilateral foveal hypoplasia and an absence of other ocular or systemic findings. Electroretinography obtained predominantly affecting cones. Laterality of pupil constriction to red but not to blue light was observed. The colored-light pupil response can be used to predict the retinal state.
June 3, 2016: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/27216762/outer-retinal-deformity-detected-by-optical-coherence-tomography-in-eyes-with-foveal-hypoplasia
#16
Satoshi Katagiri, Tadashi Yokoi, Masashi Mikami, Sachiko Nishina, Noriyuki Azuma
PURPOSE: To investigate the relationship between vision and foveal maturity, especially in foveal hypoplasia exhibiting severe structural immaturity. METHODS: This retrospective observational case series included 42 eyes of 23 patients (mean age, 7.0 ± 5.0 years; 9 patients with foveal hypoplasia as an isolated entity and 14 patients with aniridia). A complete ophthalmic examination included measurement of best-corrected visual acuity (BCVA) and spectral-domain optical coherence tomography (SD-OCT)...
November 2016: Graefe's Archive for Clinical and Experimental Ophthalmology
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/27081561/genotype-phenotype-correlation-of-pax6-gene-mutations-in-aniridia
#18
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/26995079/-role-of-sd-oct-in-the-diagnosis-and-prognosis-of-macular-hypoplasia-in-nystagmus-patients
#19
R Bouraoui, M Bouladi, F Nefaa, R Limaiem, L El Matri
PURPOSE: To investigate whether spectral domain optical coherence tomography (SD-OCT) is helpful for the diagnosis and prognosis of foveal hypoplasia in patients with overt nystagmus. METHODS: A retrospective cross-sectional study was conducted in 48 patients with overt nystagmus. All patients underwent a complete ophthalmic examination including best corrected visual acuity, biomicroscopic and fundus examinations. Spectral domain optical coherence tomography was performed using 3D OCT-2000 FA PLUS Topcon, Tokyo, Japan, for the diagnosis and grading of foveal hypoplasia, using the Thomas classification, and its possible correlation with visual acuity...
March 2016: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/26917082/foveal-hypoplasia-in-autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay
#20
Christopher T Shah, Tyson S Ward, Julie A Matsumoto, Yevgeniy Shildkrot
A 14-year-old boy presented with a presumed diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). The neurological examination, nerve conduction study, and brain imaging results were all consistent with the diagnosis. The ophthalmologic examination was notable for a prominent myelinated nerve fiber layer extending from the disk along the major temporal arcades in both eyes. Loss of foveal depression was noted clinically and on spectral domain optical coherence tomography. This case highlights a novel finding that may aid in the diagnosis of ARSACS...
February 2016: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
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