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foveal hypoplasia

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https://www.readbyqxmd.com/read/28579216/foveal-hypoplasia-documented-with-oct-angiography-in-an-albino-patient
#1
V Saunier, V Coste, C Andrèbe, T Cornut, J F Korobelnik, C Paya
No abstract text is available yet for this article.
May 31, 2017: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/28574945/a-series-of-five-patients-with-foveal-hypoplasia-demonstrating-good-visual-acuity
#2
Ian D Kirchner, Corey W Waldman, Janet S Sunness
BACKGROUND/PURPOSE: Foveal hypoplasia is associated with low vision in a variety of conditions. We report and show imaging studies for a series of five patients with foveal hypoplasia who had visual acuity ranging from 20/25 to 20/60. METHODS: Observational case series. PATIENTS: This series includes five patients aged 5 to 18 years who presented to the Greater Baltimore Medical Center, Hoover Low Vision Clinic. All patients showed a partial or complete absence of the fovea in both eyes on examination...
May 31, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28546991/structural-modeling-of-a-novel-slc38a8-mutation-that-causes-foveal-hypoplasia
#3
Marcus A Toral, Gabriel Velez, Katherine Boudreault, Kellie A Schaefer, Yu Xu, Norman Saffra, Alexander G Bassuk, Stephen H Tsang, Vinit B Mahajan
BACKGROUND: Foveal hypoplasia (FH) in the absence of albinism, aniridia, microphthalmia, or achromatopsia is exceedingly rare, and the molecular basis for the disorder remains unknown. FH is characterized by the absence of both the retinal foveal pit and avascular zone, but with preserved retinal architecture. SLC38A8 encodes a sodium-coupled neutral amino acid transporter with a preference for glutamate as a substrate. SLC38A8 has been linked to FH. Here, we describe a novel mutation to SLC38A8 which causes FH, and report the novel use of OCT-angiography to improve the precision of FH diagnosis...
May 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28542028/bilateral-optic-disc-pits-with-posterior-pituitary-ectopia
#4
Jonathan C Horton, A James Barkovich
Posterior pituitary ectopia has been reported previously in association with optic nerve hypoplasia, as a variant of septo-optic dysplasia. We describe a 14-year-old boy with posterior pituitary ectopia and bilateral optic disc pits. He had hypopituitarism and a reduction in visual acuity to 20/40 in each eye, owing to loss of foveal ganglion cells. Optic pits and posterior pituitary ectopia may have occurred together in the same subject by chance, but the rarity of both conditions suggests a possible association...
May 22, 2017: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/28394407/novel-case-of-paternal-paracentric-inversion-causing-partial-trisomy-13-and-review-of-the-literature
#5
Chad Douglas, Stephen A Smith, Luis Rohena
Partial trisomies have often been reported secondary to inversion mutations. These occurrences are most frequently associated with pericentric inversions. In this report, we describe the first documented case of partial trisomy 13 secondary to a parental paracentric inversion, in this case a paternal paracentric 13q inversion. Our Patient exhibits a variety of clinical findings including global developmental delay with intellectual disability, sensorineural hearing loss, bilateral congenital polar cataracts with associated foveal and optic nerve hypoplasia, right retinal detachment, atrial septal defect, absence of corpus callosum, celiac disease, microcephaly, as well as other dysmorphic features...
June 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28339057/gpr143-mutations-in-chinese-patients-with-ocular-albinism-type-1
#6
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...
May 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
#7
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
#8
MULTICENTER STUDY
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...
June 2017: Ophthalmology
https://www.readbyqxmd.com/read/28211458/molecular-genetic-and-clinical-evaluation-of-three-chinese-families-with-x-linked-ocular-albinism
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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...
July 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/27685500/foveal-hypoplasia-diagnosis-using-optical-coherence-tomography-angiography
#18
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
#19
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
#20
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
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