Results 21 to 30 of about 21,012 (173)

Torpedo Maculopathy Associated with NEXMIF Mutation. [PDF]

open access: bronzeMol Syndromol, 2019
Mutations in the neurite extension and migration factor (<i>NEXMIF</i>) gene are associated with X-linked intellectual disability. Thus far, all males reported with <i>NEXMIF</i> mutations have mild to profound intellectual disability with varying combinations of autistic features, poor or absent speech, epilepsy, facial ...
Alarcon-Martinez T, Khan A, Myers KA.
europepmc   +5 more sources

Abnormal electrophysiology in a case of torpedo maculopathy

open access: diamondKerala Journal of Ophthalmology, 2021
Torpedo maculopathy is an uncommon, often isolated retinal finding reported in literature. We report a case of torpedo maculopathy with nystagmus and abnormal electroretinogram findings with an abnormal mutation in a child.
Manoj Soman   +3 more
doaj   +3 more sources

Progressive Changes in a Torpedo Maculopathy Lesion Over a 6-Year Period [PDF]

open access: yesJournal of Current Ophthalmology
Purpose: To report the longitudinal changes on optical coherence tomography (OCT) in a patient with torpedo maculopathy (TM). Methods: Retrospective observational study.
Sai Prashanti Chitturi   +3 more
doaj   +3 more sources

Ocular manifestations in Congenital Zika syndrome: About a case of torpedo maculopathy [PDF]

open access: goldAmerican Journal of Ophthalmology Case Reports, 2020
Purpose: To describe pertinent imaging studies and clinical features of a torpedo maculopathy presumably associated with congenital Zika syndrome. Observation: A 23-month-old child, with no prematurity or microcephaly at birth, was examined in the ...
Charles Mesnard   +4 more
doaj   +3 more sources

Hyperpigmented Torpedo Maculopathy with Pseudo-Lacuna: A 5-Year Follow-Up [PDF]

open access: goldCase Reports in Ophthalmology, 2016
Purpose: The aim of the study was to describe a case of globally hyperpigmented torpedo maculopathy that also contained a novel central lesion resembling a ‘pseudo-lacuna’. We compare the morphology of the lesion after 5 years of follow-up.
Austin Rohl, Sushma Vance
doaj   +4 more sources

Torpedo maculopathy: A primary choroidal capillary abnormality?

open access: diamondIndian Journal of Ophthalmology, 2018
A 26-year-old healthy male patient's fundus revealed findings consistent with torpedo maculopathy. Swept-source optical coherence tomography (OCT) showed a dome-shaped elevation of the retina at the level of ellipsoid zone.
Rohan Chawla   +3 more
doaj   +3 more sources

Torpedo Maculopathy. A Case Report

open access: bronzeCzech and Slovak Ophthalmology, 2023
AIM Torpedo maculopathy is an incidental, congenital retinal lesion. The typical clinical finding is a unilateral, symmetric, oval, hypopigmented lesion in the inferotemporal macula.
Zuzana Šulavíková, Vladimír Krásnik
semanticscholar   +5 more sources

Multimodal Imaging in Torpedo Maculopathy

open access: yesDelhi Journal of Ophthalmology
This is a case of torpedo maculopathy in a 45-year-old female which was previously diagnosed as a toxoplasma scar. The characteristic appearance on fundus examination along with the multimodal imaging characteristics helped diagnose torpedo maculopathy ...
Ferzana Mohammed, Bindu Susheela
doaj   +3 more sources

Multifocal Torpedo Maculopathy Complicated by Choroidal Neovascularization. [PDF]

open access: yesJ Vitreoretin Dis
Purpose: To present a pediatric patient with a unique configuration of torpedo maculopathy complicated by macular choroidal neovascularization (CNV). Methods: A single case was retrospectively reviewed.
Castro MC   +4 more
europepmc   +4 more sources

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