Results 71 to 80 of about 3,171 (213)

Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder

open access: yesJournal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Free sialic acid storage disorder (FSASD) is a lysosomal storage disorder that results from biallelic pathogenic variants in the SLC17A5 gene. This gene codes for sialin, a 12‐transmembrane domain protein that exports the charged sugar N‐acetylneuraminic acid (Neu5Ac; sialic acid) out of the lysosome.
Zoe Wolfenson   +18 more
wiley   +1 more source

Non-adjustable surgery for acute acquired comitant esotropia under general anesthesia

open access: yesBMC Ophthalmology, 2022
Purpose: To investigate the surgical results of the non-adjustable suture technique under general anesthesia for the correction of acute acquired comitant esotropia. Study design: Retrospective case study.
Soo Hyun Lim   +2 more
doaj   +1 more source

Magnetic resonance imaging findings in children with spasmus nutans [PDF]

open access: yes, 2017
Background Spasmus nutans (SN) is a rare pediatric ophthalmologic syndrome characterized by nystagmus, head bobbing, and abnormal head positioning. Historically, SN has been associated with underlying optic pathway gliomas (OPG); however, evidence of ...
Bowen, Meredith   +5 more
core   +1 more source

Acquired Esotropia Associated with Myopia.

open access: yesJAPANESE ORTHOPTIC JOURNAL, 1993
近視を伴う後天内斜視と診断された男性7例,女性11例計18例の臨床像について検討した.発症年齢は9歳から40歳までの平均17歳で,思春期に発症が多くみられた.屈折度は-3.0D以上が75.0%にみられ,平均-4.47Dであった.斜視角は屈折矯正下にて,遠見16Δから50Δ平均32Δの内斜視,近見16Δから50Δ平均30Δの内斜視で,遠見と近見の斜視角の差が10Δ以上の症例は認められなかった.治療法としては大部分の症例に手術を行い,手術施行例15例中14例は10Δ以下の正位または内斜視となり良好な眼位矯正効果を得た.術後の再発例は2例で,1例は35Δの内斜視が残っており,他の1例は初回手術から10年後に再発したために,再手術を施行し,その後内斜位を保っている.また自然治癒例も1例に認められた ...
Tamaki MURAKAMI   +4 more
openaire   +2 more sources

Impact of uncorrected hyperopia on visual function and academic performance in preschool and school‐age children

open access: yesOptometry and Vision Science, Volume 103, Issue 2, February 2026.
ABSTRACT Many children with a moderate amount of farsightedness do not see as well up close as children who are not farsighted, and they often have significantly more problems with near visual function (near visual acuity, stereoacuity, and accommodation), early literacy skills, reading, and attention.
Marjean Taylor Kulp   +6 more
wiley   +1 more source

Herpes Zoster Ophthalmicus and Lateral Rectus Palsy in an Elderly Patient

open access: yesCase Reports in Ophthalmology, 2011
Acquired palsy of the lateral rectus presents with horizontal diplopia and has a broad differential. Herpes zoster ophthalmicus- (HZO) related cranial nerve palsy is a transient and self-limiting condition. Systemic antiviral treatment is administered in
Ozgur Yalcinbayir   +3 more
doaj   +1 more source

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

open access: yesAnnals of Clinical and Translational Neurology, Volume 13, Issue 1, Page 108-121, January 2026.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco   +18 more
wiley   +1 more source

Iron Deficiency Anemia: An Unexpected Cause of an Acute Occipital Lobe Stroke in an Otherwise Healthy Young Woman [PDF]

open access: yes, 2020
A 29-year-old caucasian woman who presented to the hospital with an acute onset of right eye visual disturbance and headache was found to have an acute left occipital lobe infarction.
Nace, Travis C   +3 more
core   +1 more source

A new apparatus for visual field testing with binocular fixation [PDF]

open access: yes, 1978
A new instrument for visual field examination with binocular fixation is described. The binocular vision was dissociated with polarizing plates. Only the point of fixation was visible to both eyes while the testing chart (Amsler chart) was visible to one
Hasegawa, Eiichi
core   +1 more source

Case Series of Nizon‐Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid–Triploid Mosaicism

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 1, Page 205-214, January 2026.
ABSTRACT Nizon‐Isidor syndrome is a rare disorder caused by heterozygous variants in MED12L, with only eight documented cases in the literature. Here, we present three additional cases of this syndrome. Proband 1 was a 7‐year‐old female who presented with developmental delay, right‐leg hemihypertrophy, laryngeal cleft, esotropia, abnormal skin ...
Russell Stewart   +336 more
wiley   +1 more source

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