Electrodiagnostic tests of the visual pathway and applications in neuro-ophthalmology

A Calcagni, MM Neveu, N Jurkute, AG Robson - Eye, 2024 - nature.com
This article describes the main visual electrodiagnostic tests relevant to neuro-
ophthalmology practice, including the visual evoked potential (VEP), and the full-field …

Managing the apparently blind child presenting in the first year of life: A review

KE Leahy, E Lo‐Cao, RV Jamieson… - Clinical & Experimental …, 2024 - Wiley Online Library
Severe vision impairment and blindness in childhood have a significant health burden on
the child, family and society. This review article seeks to provide a structured framework for …

Healing mechanisms after macular hole repair suggests process of foveation

RF Spaide - Retina, 2023 - journals.lww.com
Purpose: To evaluate the long-term healing of the fovea following macular hole surgery in
light of the processes known to occur during the maturation of the fovea during childhood, in …

Prospective study of pediatric patients presenting with idiopathic infantile nystagmus—Management and molecular diagnostics

N Aychoua, E Schiff, S Malka, VK Tailor… - Frontiers in …, 2022 - frontiersin.org
Idiopathic infantile nystagmus (IIN) is an inherited disorder occurring in the first 6 months of
life, with no underlying retinal or neurological etiologies and is predominantly caused by …

Reduced contrast sensitivity function and outer retina thickness in convalescent Vogt-Koyanagi-Harada disease

YS Li, X Hu, FY Zhou, X Guo, X Yang, R Liu, D Lin… - Eye, 2024 - nature.com
Background To evaluate contrast sensitivity function (CSF) in convalescent Vogt-Koyanagi-
Harada (VKH) disease and investigate the relationship between CSF and chorioretinal …

[HTML][HTML] Whole genome resequencing reveals the genetic basis of albino phenotype in an ornamental fish, Channa asiatica

D Yuan, J Li, S Wang, S Fu, H Gao, Y Duan, Y Zhou… - Aquaculture …, 2024 - Elsevier
Body color is one of the most noticeable phenotypic and economic characteristics in fish.
Fish exhibit a diverse array of body color mutations influenced by factors such as artificial …

Early diagnosis of immunodeficient patients with partial albinism: The role of hair study and peripheral blood smear

S Tajik, MR Fazlollahi, Z Alizadeh… - Pediatric Allergy and …, 2024 - Wiley Online Library
Background Primary immunodeficiency diseases (inborn errors of immunity) with partial
albinism are a group of autosomal recessive syndromes including Chediak Higashi …

Our current understanding of clinical characteristics and the genetics of patients with albinism

CS Chean, Z Tu, MG Thomas… - Expert Review of …, 2024 - Taylor & Francis
Introduction Albinism is a heterogenous disease with variable phenotypic and genotypic
presentations. Diagnosis can be challenging and clinical evaluation strategies vary. Areas …

Successful treatment of retinopathy of prematurity in oculocutaneous albinism with OCA2 variants: a case report and review of literature

XY Zheng, DW Wu, L Yu, ZY Zhao - BMC pediatrics, 2024 - Springer
Background Oculocutaneous albinism (OCA) is a group of autosomal recessive hereditary
disorders that affect melanin biosynthesis, resulting in abnormalities in hair, skin, and eyes …

[HTML][HTML] Foveal Hypoplasia in a Child With Tyrosinase-Positive Albinism

A Kavalaraki, K Paraskevopoulos, M Kavalaraki… - Cureus, 2023 - ncbi.nlm.nih.gov
The purpose of this article is to report a case of bilateral foveal hypoplasia in an eight-year-
old girl who presented to the ophthalmology department due to poor vision in both eyes …