[HTML][HTML] The retinal pigmentation pathway in human albinism: Not so black and white

R Bakker, EL Wagstaff, CC Kruijt, E Emri… - Progress in retinal and …, 2022 - Elsevier
Albinism is a pigment disorder affecting eye, skin and/or hair. Patients usually have
decreased melanin in affected tissues and suffer from severe visual abnormalities, including …

Congenital visual pathway abnormalities: a window onto cortical stability and plasticity

MB Hoffmann, SO Dumoulin - Trends in neurosciences, 2015 - cell.com
Sensory systems project information in a highly organized manner to the brain, where it is
preserved in maps of the sensory structures. These sensory projections are altered in …

Hermansky–Pudlak syndrome: mutation update

M Huizing, MCV Malicdan, JA Wang… - Human …, 2020 - Wiley Online Library
Hermansky–Pudlak syndrome (HPS) is a group of 10 autosomal recessive multisystem
disorders, each defined by the deficiency of a specific gene. HPS‐associated genes encode …

[HTML][HTML] Oculocutaneous albinism and ocular albinism overview

MG Thomas, J Zippin, BP Brooks - 2023 - europepmc.org
Oculocutaneous Albinism and Ocular Albinism Overview - Abstract - Europe PMC Sign in |
Create an account https://orcid.org Europe PMC Menu About Tools Developers Help …

Effect of nystagmus on VEP-based objective visual acuity estimates

EV Quanz, J Kuske, FH Stolle, M Bach, SP Heinrich… - Scientific Reports, 2024 - nature.com
In order to determine the effect of nystagmus on objective visual acuity (VA) estimates, we
compared subjective (VApsych) and objective (VEP, VAVEP) VA estimates in participants …

Aberrant visual pathway development in albinism: from retina to cortex

S Ather, FA Proudlock, T Welton… - Human brain …, 2019 - Wiley Online Library
Albinism refers to a group of genetic abnormalities in melanogenesis that are associated
neuronal misrouting through the optic chiasm. We perform quantitative assessment of visual …

Visual experience-dependent development of ocular dominance columns in pigmented rats

Q Zhou, H Li, S Yao, T Takahata - Cerebral Cortex, 2023 - academic.oup.com
Despite previous agreement of the absence of cortical column structure in the rodent visual
cortex, we have recently revealed a presence of ocular dominance columns (ODCs) in the …

CHIASM, the human brain albinism and achiasma MRI dataset

RJ Puzniak, B McPherson, K Ahmadi, A Herbik… - Scientific data, 2021 - nature.com
We describe a collection of T1-, diffusion-and functional T2*-weighted magnetic resonance
imaging data from human individuals with albinism and achiasma. This repository can be …

Changes in brain morphology in albinism reflect reduced visual acuity

H Bridge, EAH von dem Hagen, G Davies, C Chambers… - Cortex, 2014 - Elsevier
Albinism, in humans and many animal species, has a major impact on the visual system,
leading to reduced acuity, lack of binocular function and nystagmus. In addition to the lack of …

Population receptive field and connectivity properties of the early visual cortex in human albinism

K Ahmadi, A Herbik, M Wagner, M Kanowski, H Thieme… - Neuroimage, 2019 - Elsevier
In albinism, the pathological decussation of the temporal retinal afferents at the optic chiasm
leads to superimposed representations of opposing hemifields in the visual cortex. Here, we …