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foveal hypoplasia

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https://www.readbyqxmd.com/read/27899366/optical-coherence-tomography-angiography-of-foveal-hypoplasia
#1
Kaivon Pakzad-Vaezi, Pearse 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
#2
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
#3
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
#4
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.
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
#5
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)...
May 23, 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
#6
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/27081561/genotype-phenotype-correlation-of-pax6-gene-mutations-in-aniridia
#7
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
#8
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
#9
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
https://www.readbyqxmd.com/read/26823395/the-ophthalmic-presentation-of-hermansky-pudlak-syndrome-6
#10
Sarah Hull, Gavin Arno, Graham E Holder, Vincent Plagnol, Keith Gomez, Ri Liesner, Andrew R Webster, Anthony T Moore
BACKGROUND: Hermansky-Pudlak syndrome (HPS) may present to the ophthalmologist with signs suggestive of oculocutaneous albinism. Consideration of HPS as a differential diagnosis is important due to its potential systemic complications. HPS6 is a rarely reported subtype. METHODS: Three patients from two families underwent clinical examination, imaging and targeted systemic investigations. Electrophysiology with visual-evoked potentials (VEPs) was performed in both children of family 1...
January 28, 2016: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/26474496/evidence-of-macular-pigment-in-the-central-macula-in-albinism
#11
Yulia Wolfson, Emily Fletcher, Rupert W Strauss, Hendrik P N Scholl
PURPOSE: Albinism represents a spectrum of disorders with diminished to absent amounts of melanin pigmentation including the posterior segment of the eye. Macular pigment (MP) consists of two main carotenoids, lutein and zeaxanthin, concentrated in the macula. MP serves as blue light absorbent, antioxidant, and may reduce chromatic aberration and glare. It remains unclear if albinos have detectable MP. The purpose was to investigate the distribution of MP in albino patients with psychophysical and imaging techniques...
April 2016: Experimental Eye Research
https://www.readbyqxmd.com/read/26307451/optic-neuropathy-in-late-onset-neurodegenerative-ch%C3%A3-diak-higashi-syndrome
#12
Ninad Desai, James D Weisfeld-Adams, Scott E Brodie, Catherine Cho, Christine A Curcio, Fred Lublin, Janet C Rucker
BACKGROUND: The classic form of Chédiak-Higashi syndrome (CHS), an autosomal recessive disorder of lysosomal trafficking with childhood onset caused by mutations in ITALIC! LYST, is typified ophthalmologically by ocular albinism with vision loss attributed to foveal hypoplasia or nystagmus. Optic nerve involvement and ophthalmological manifestations of the late-onset neurodegenerative form of CHS are rarely reported and poorly detailed. METHODS: Case series detailing ophthalmological and neurological findings in three adult siblings with the late-onset form of CHS...
May 2016: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/26273469/unilateral-foveal-hypoplasia-in-a-child-with-bilateral-anterior-segment-dysgenesis
#13
Rebecca A Shields, Kara M Cavuoto, Craig A McKeown, Ta C Chang
In patients with foveal hypoplasia, anterior segment dysgenesis and an absence of systemic findings, consider a recently described syndrome of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis (FHONDA) in the differential diagnosis.
July 2015: Clinical Case Reports
https://www.readbyqxmd.com/read/26265907/optical-coherence-tomography-in-an-infant-with-walker-warburg-syndrome
#14
Natsuko Mano, Tatsuma Mitsutsuji, Yamato Yoshikawa, Makiko Miyamoto, Hiroko Watanabe, Kazuhiro Shimizu, Michiko Miki, Masashi Mimura, Mari Ueki, Tsunehiko Ikeda
PURPOSE: Walker-Warburg syndrome (WWS) is a type of congenital muscular dystrophy (CMD) characterised by severe brain malformation, lissencephaly, and congenital eye abnormalities. Despite the coexistence of various eye abnormalities, results from optical coherence tomography (OCT) in WWS have not previously been reported. We herein report specific OCT findings in an infant with WWS. PATIENTS AND METHODS: The patient was a 14-day-old boy delivered by caesarean section at 38 weeks and 4 days of gestation and with a birth weight of 2,543 g...
May 2015: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/26242851/-thickening-or-hypoplasia-of-the-fovea
#15
A Nessmann, C Schramm, F Gelisken
A 64-year-old female patient complained of a bilateral reduction in vision. The foveal reflex was remarkable bilaterally and optical coherence tomography (OCT) demonstrated the absence of a foveal depression. After exclusion of possible diseases foveal hypoplasia was diagnosed. This rare alteration of the fovea should not be mistaken for foveal edema. A volume scan with a narrow grid is advisable to avoid a misinterpretation.
June 2016: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
https://www.readbyqxmd.com/read/26160353/gpr143-gene-mutations-in-five-chinese-families-with-x-linked-congenital-nystagmus
#16
Ruifang Han, Xiaojuan Wang, Dongjie Wang, Liming Wang, Zhongfang Yuan, Ming Ying, Ningdong Li
The ocular albinism type I (OA1) is clinically characterized by impaired visual acuity, nystagmus, iris hypopigmentation with translucency, albinotic fundus, and macular hypoplasia together with normally pigmented skin and hair. However, it is easily misdiagnosed as congenital idiopathic nystagmus in some Chinese patients with OA1 caused by the G-protein coupled receptor 143 (GPR143) gene mutations. Mutations in the FERM domain-containing 7 (FRMD7) gene are responsible for the X-linked congenital idiopathic nystagmus...
2015: Scientific Reports
https://www.readbyqxmd.com/read/26053207/clinical-insights-into-foveal-morphology-in-albinism
#17
Brandon K McCafferty, Melissa A Wilk, John T McAllister, Kimberly E Stepien, Adam M Dubis, Murray H Brilliant, Jennifer L Anderson, Joseph Carroll, C Gail Summers
PURPOSE: A hallmark of albinism is foveal hypoplasia. However, literature suggests variable foveal development. This study evaluates the association between ocular phenotype and foveal morphology to demonstrate the broad structural and functional spectrum. METHODS: Best-corrected visual acuity (BCVA), nystagmus, angle kappa, stereoacuity, iris transillumination, macular melanin presence, foveal avascular zone, and annular reflex were recorded in 14 patients with albinism...
May 2015: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/26043102/structural-abnormalities-of-the-inner-macula-in-incontinentia-pigmenti
#18
Jacob Basilius, Marielle P Young, Timothy C Michaelis, Ronald Hobbs, Glen Jenkins, M Elizabeth Hartnett
IMPORTANCE: This report presents evidence from spectral-domain optical coherence tomography and fluorescein angiography of inner foveal structural abnormalities associated with vision loss in incontinentia pigmenti (IP). OBSERVATIONS: Two children had reduced visual behavior in association with abnormalities of the inner foveal layers on spectral-domain optical coherence tomography. Fluorescein angiography showed filling defects in retinal and choroidal circulations and irregularities of the foveal avascular zones...
September 2015: JAMA Ophthalmology
https://www.readbyqxmd.com/read/26029869/mutations-in-the-unfolded-protein-response-regulator-atf6-cause-the-cone-dysfunction-disorder-achromatopsia
#19
Susanne Kohl, Ditta Zobor, Wei-Chieh Chiang, Nicole Weisschuh, Jennifer Staller, Irene Gonzalez Menendez, Stanley Chang, Susanne C Beck, Marina Garcia Garrido, Vithiyanjali Sothilingam, Mathias W Seeliger, Franco Stanzial, Francesco Benedicenti, Francesca Inzana, Elise Héon, Ajoy Vincent, Jill Beis, Tim M Strom, Günther Rudolph, Susanne Roosing, Anneke I den Hollander, Frans P M Cremers, Irma Lopez, Huanan Ren, Anthony T Moore, Andrew R Webster, Michel Michaelides, Robert K Koenekoop, Eberhart Zrenner, Randal J Kaufman, Stephen H Tsang, Bernd Wissinger, Jonathan H Lin
Achromatopsia (ACHM) is an autosomal recessive disorder characterized by color blindness, photophobia, nystagmus and severely reduced visual acuity. Using homozygosity mapping and whole-exome and candidate gene sequencing, we identified ten families carrying six homozygous and two compound-heterozygous mutations in the ATF6 gene (encoding activating transcription factor 6A), a key regulator of the unfolded protein response (UPR) and cellular endoplasmic reticulum (ER) homeostasis. Patients had evidence of foveal hypoplasia and disruption of the cone photoreceptor layer...
July 2015: Nature Genetics
https://www.readbyqxmd.com/read/25939636/high-resolution-imaging-of-the-optic-nerve-and-retina-in-optic-nerve-hypoplasia
#20
Anastasia Pilat, Daniel Sibley, Rebecca J McLean, Frank A Proudlock, Irene Gottlob
PURPOSE: To investigate the optic nerve and macular morphology in patients with optic nerve hypoplasia (ONH) using spectral-domain optical coherence tomography (SD OCT). DESIGN: Prospective, cross-sectional, observational study. SUBJECTS: A total of 16 participants with ONH (10 female and 6 male; mean age, 17.2 years; 6 bilateral involvement) and 32 gender-, age-, ethnicity-, and refraction-matched healthy controls. METHODS: High-resolution SD OCT (Copernicus [Optopol Technology S...
July 2015: Ophthalmology
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