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foveal hypoplasia

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https://www.readbyqxmd.com/read/29784171/unilateral-isolated-foveal-hypoplasia
#1
Munir M Iqbal, Inas Makar
No abstract text is available yet for this article.
June 2018: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
https://www.readbyqxmd.com/read/29780943/longitudinal-ophthalmic-findings-in-a-child-with-helsmoortel-van-der-aa-syndrome
#2
Michael J Gale, Hope E Titus, Gareth A Harman, Talal Alabduljalil, Anna Dennis, Jenny L Wilson, David M Koeller, Erika Finanger, Peter A Blasco, Pei-Wen Chiang, Daniel J Karr, Paul Yang
Purpose: We present the first detailed ophthalmic description of a child with Helsmoortel-Van der Aa Syndrome (HVDAS), including longitudinal follow-up and analysis. Observations: After extensive workup, a young child with poor visual behavior, hypotonic cerebral palsy, intellectual disability, and global developmental delay was found to have a heterozygous de novo mutation in the ADNP gene and diagnosed with HVDAS. Ophthalmic findings were remarkable for progressive nystagmus, macular pigment mottling, mild foveal hypoplasia with abnormal macular laminations, persistent rod dysfunction with electronegative waveform, and progressive cone degeneration...
June 2018: American Journal of Ophthalmology Case Reports
https://www.readbyqxmd.com/read/29775563/anolis-carolinensis-as-a-model-to-understand-molecular-and-cellular-basis-of-foveal-development
#3
Naif S Sannan, Xianghong Shan, Kevin Gregory-Evans, Kenro Kusumi, Cheryl Y Gregory-Evans
The fovea is an anatomical specialization of the central retina containing closely packed cone-photoreceptors providing an area of high acuity vision in humans and primates. Despite its key role in the clarity of vision, little is known about the molecular and cellular basis of foveal development, due to the absence of a foveal structure in commonly used laboratory animal models. Of the amniotes the retina in birds of prey and some reptiles do exhibit a typical foveal structure, but they have not been studied in the context of foveal development due to lack of availability of embryonic tissue, lack of captive breeding programs, and limited genomic information...
May 15, 2018: Experimental Eye Research
https://www.readbyqxmd.com/read/29609042/the-primate-fovea-structure-function-and-development
#4
REVIEW
Andreas Bringmann, Steffen Syrbe, Katja Görner, Johannes Kacza, Mike Francke, Peter Wiedemann, Andreas Reichenbach
A fovea is a pitted invagination in the inner retinal tissue (fovea interna) that overlies an area of photoreceptors specialized for high acuity vision (fovea externa). Although the shape of the vertebrate fovea varies considerably among the species, there are two basic types. The retina of many predatory fish, reptilians, and birds possess one (or two) convexiclivate fovea(s), while the retina of higher primates contains a concaviclivate fovea. By refraction of the incoming light, the convexiclivate fovea may function as image enlarger, focus indicator, and movement detector...
March 30, 2018: Progress in Retinal and Eye Research
https://www.readbyqxmd.com/read/29593643/spontaneous-nystagmus-in-the-dark-in-an-infantile-nystagmus-patient-may-represent-negative-optokinetic-afternystagmus
#5
Ting-Feng Lin, Christina Gerth-Kahlert, James V M Hanson, Dominik Straumann, Melody Ying-Yu Huang
Abnormal projection of the optic nerves to the wrong cerebral hemisphere transforms the optokinetic system from its usual negative feedback loop to a positive feedback loop with characteristic ocular motor instabilities including directional reversal of the optokinetic nystagmus (OKN) and spontaneous nystagmus, which are common features of infantile nystagmus syndrome (INS). Visual input plays a critical role in INS linked to an underlying optic nerve misprojection such as that often seen in albinism. However, spontaneous nystagmus often continues in darkness, making the visual, sensory-driven etiology questionable...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29398701/unmeasurable-small-size-of-foveal-avascular-zone-without-visual-impairment-in-optical-coherence-tomography-angiography
#6
Tatsuro Yokoyama, Ichiro Maruko, Hideki Koizumi, Yutaka Ishikawa, Tomohiro Iida
PURPOSE: To report the clinical characteristics of eyes with an unmeasurable small size of foveal avascular zone (FAZ) in the optical coherence tomography angiographic (OCTA) images. METHODS: Two-hundred sixty-seven eyes of 255 patients (mean age 60.4 years) without retinal and choroidal disorders to cause any type of visual impairment were examined by optical coherence tomography angiography (OCTA; RTVue XR Avanti, Optovue, Fremont, CA). Cross-sectional images at the fovea (DRI-OCT, Topcon, Japan) and fundus autofluorescence (CX-1 MYD/NM, Canon, Japan) were also recorded from all eyes...
February 5, 2018: Eye
https://www.readbyqxmd.com/read/29380764/identification-of-a-novel-frameshift-mutation-in-pax6-gene-and-the-clinical-management-in-an-asian-indian-aniridia-family
#7
Isham Palayil, S G Priya, N V Sarath Sivan, Nivean Madhivanan, Panneer Selvam Venkatachalam, Madhavan Jagadeesan
PURPOSE: This study aimed to characterize an Asian Indian aniridia family for both the phenotype and genotype of the disease for a better clinical management. METHODS: The phenotype and genotype of the affected and unaffected individuals in the aniridia family were evaluated. The subjects underwent a standard ophthalmic evaluation followed by molecular screening of PAX6 gene in the peripheral blood for mutation detection. RESULTS: The three affected individuals had aniridia with several common features and an uncommon presentation of bilateral congenital ptosis...
February 2018: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29345414/molecular-characterization-of-a-series-of-990-index-patients-with-albinism
#8
Eulalie Lasseaux, Claudio Plaisant, Vincent Michaud, Perrine Pennamen, Aurelien Trimouille, Laetitia Gaston, Solène Monfermé, Didier Lacombe, Caroline Rooryck, Fanny Morice-Picard, Benoît Arveiler
Albinism is a clinically and genetically heterogeneous disease characterized by variable degrees of hypopigmentation and by nystagmus, foveal hypoplasia, and chiasmatic misrouting of the optic nerves. The wide phenotypic heterogeneity impedes the establishment of phenotype-genotype correlations. To obtain a precise diagnosis, we screened the 19 known albinism genes in 990 index patients using targeted next-generation sequencing (NGS) and high-resolution comparative genomic hybridization. A molecular diagnosis was obtained in 72...
January 18, 2018: Pigment Cell & Melanoma Research
https://www.readbyqxmd.com/read/29238604/novel-pax6-mutation-reported-in-an-aniridia-patient
#9
Andrew Winegarner, Yoshinori Oie, Satoshi Kawasaki, Nozomi Nishida, Kohji Nishida
An aniridia patient was found to have a novel PAX6 mutation. A genetic duplication within PAX6 , which caused a frameshift mutation, ultimately created a nonsense stop codon and premature truncation of the protein. Consequently, the patient presented with a clouded cornea as a result of partial limbal stem cell deficiency, foveal hypoplasia, nystagmus and a pale, cupped optic disc caused by glaucoma.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/29217025/correlation-of-novel-pax6-gene-abnormalities-in-aniridia-and-clinical-presentation
#10
Naif S Sannan, Cheryl Y Gregory-Evans, Christopher J Lyons, Anna M Lehman, Sylvie Langlois, Simon J Warner, Helen Zakrzewski, Kevin Gregory-Evans
OBJECTIVE: To describe the clinical presentation and genotype of subjects with aniridia with a particular focus on foveal hypoplasia. DESIGN: Prospective cohort study. PARTICIPANTS: Thirty-three Canadian participants with aniridia and of various ethnic backgrounds residing in British Columbia. METHODS: Full ophthalmic examinations and posterior segment spectral domain-optical coherence tomography (SD-OCT) imaging were performed...
December 2017: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
https://www.readbyqxmd.com/read/29141386/-clinical-characteristics-and-surgical-effect-observation-of-congenital-aniridia-combined-with-cataract
#11
X H Wu, Q Z Cao, Y X Hu, J N Lin, H T Lin, W R Chen, Y Z Liu
Objective: To analyze the clinical manifestations, surgical approaches and postoperative prognosis for the cases of congenital aniridia combined with cataract. Methods: In this retrospective case series, 26 patients diagnosed with congenital aniridia combined with cataract were collected from Zhongshan Ophthalmic Center from February 2002 to August 2016. The Clinical data were collected to analyze the clinical features, surgical approaches and postoperative prognosis. T-test was used for statistical analysis...
November 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29109903/the-diagnostic-role-of-multimodal-imaging-techniques-in-isolated-foveal-hypoplasia
#12
Figen Batıoğlu, Sibel Demirel, Emin Özmert, Betül Bayraktutar, Özge Yanık
To report a case of bilateral isolated foveal hypoplasia in which multimodal imaging was used to confirm the diagnosis. Fundus autofluorescence imaging, optical coherence tomography (OCT), and fundus fluorescein angiography were used to describe the typical findings of a patient with isolated foveal hypoplasia. Spectral domain OCT showed absence of foveal depression and persistent inner retinal layers in the fovea. Fundus autofluorescence did not reveal foveal hypoautofluorescence in the presumed foveal area...
October 2017: Turkish Journal of Ophthalmology
https://www.readbyqxmd.com/read/28817389/congenital-anomalies-of-the-optic-disc-insights-from-optical-coherence-tomography-imaging
#13
REVIEW
Karen W Jeng-Miller, Dean M Cestari, Eric D Gaier
PURPOSE OF REVIEW: Congenital anomalies of the optic nerve are rare but significant causes of visual dysfunction in children and adults. Accurate diagnosis is dependent on a thorough funduscopic examination, but can be enhanced by imaging information garnered from optical coherence tomography (OCT). We review common congenital optic nerve anomalies, including optic disc pit, optic nerve coloboma, morning glory disc anomaly, and hypoplasia of the optic nerve, review their systemic associations, and discuss insights from OCT imaging...
November 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28579216/foveal-hypoplasia-documented-with-oct-angiography-in-an-albino-patient
#14
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
#15
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
#16
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
#17
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...
December 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
#18
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
#19
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
#20
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
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