Results 201 to 210 of about 232,677 (345)

Amblyopia and adult health: a comprehensive analysis of long-term systemic, sensory and mental health comorbidities in a national cohort. [PDF]

Br J Ophthalmol
Lee KAV, Langholm C, Lin T, Jin K, Aboobakar IF, Oke I, Whitman MC.   +6 more
europepmc   +1 more source

Retinal dystrophies simulating geographic atrophy: A diagnostic challenge

Acta Ophthalmologica, EarlyView.
Abstract Geographic atrophy (GA) is the chronic loss of retinal pigment epithelium, photoreceptors and choriocapillaris, marking the dry late stage of age‐related macular degeneration (AMD). GA prevalence is expected to rise in the upcoming decades. Advanced GA leads to central scotomas, reducing visual acuity and quality of life, potentially resulting
Johanna M. Colijn, Frank G. Holz, Jeroen Pas, Carel Hoyng   +3 more
wiley   +1 more source

Comprehensive genotype-phenotype correlation analysis in 11 509 neonates carrying common deafness-associated pathogenic variants. [PDF]

J Med Genet
Li J, Zhan Z, Zhang X, Wu B, Liu W.
europepmc   +1 more source

Usher syndrome‐related visual impairment in Finland: A 35‐year nationwide register‐based study (1985–2019)

Acta Ophthalmologica, EarlyView.
Abstract Purpose To investigate visual impairment (VI) associated with Usher syndrome (USH), a syndromic form of retinitis pigmentosa. Methods This register‐based study used data from the Register of the Finnish Federation for Visual Impairment for persons registered with USH‐related VI from 1985 to 2019.
Rasha Sameer Moustafa, Paula Mosallaei, Petri Purola, Laura Impiö, Mika Gissler, Hannu Uusitalo   +5 more
wiley   +1 more source

Disparities in deafness gene mutations between Han and Li ethnic newborns in Hainan, China: insights from a combined screening program. [PDF]

BMC Med Genomics
Qi X, Wang D, Liu S, Jiao B, Tian X, Dai P, Su Y.   +6 more
europepmc   +1 more source

Vaccinations During Pregnancy Protect the Mother–Infant Dyad and Are Generally Safe

Acta Paediatrica, EarlyView.
ABSTRACT Aim Vaccination in pregnancy has a critical impact on mothers, foetuses and infants. The aim of this paper was to summarise key points presented by experts attending the 12th Maria Delivoria‐Papadopoulos Perinatal Symposium in March 2025 and further expand and update them.
Ariadne Malamitsi‐Puchner, Despina D. Briana, Gian Carlo Di Renzo   +2 more
wiley   +1 more source

Bi-allelic missense variants in human GPN2 result in Perrault syndrome. [PDF]

Am J Hum Genet
Smith TB, Faridi R, Demain LAM, Inagaki S, Ishibashi Y, Thomas HB, Belyantseva IA, Rea A, Lai KL, Maqbool A, Rauf B, Usmani MA, Schäffer AA, Morell RJ, Green A, Ghedia S, Wilding M, Hay R, Sokolova Y, Riordan GP, Schrauwen I, Liaqat K, Riazuddin S, Ahmed ZM, Chien WW, He L, McGovern A, Byers H, Beaman GM, Ahmad W, Leal SM, Taylor RW, Riazuddin S, O'Keefe RT, Friedman TB, Newman WG.   +35 more
europepmc   +1 more source

Visual activity predicts auditory recovery from deafness after adult cochlear implantation.

Brain : a journal of neurology, 2013
K. Strelnikov, J. Rouger, J. Démonet, S. Lagleyre, B. Fraysse, O. Déguine, P. Barone   +6 more
semanticscholar   +1 more source

Psychiatric and Neurodevelopmental Outcomes in Swedish Children With Hearing Loss due to Congenital Cytomegalovirus Infection: A Cross‐Sectional Study

Acta Paediatrica, EarlyView.
ABSTRACT Aim To investigate parent‐reported psychiatric, neurodevelopmental and adaptive functioning outcomes in children with congenital cytomegalovirus (cCMV)‐related sensorineural hearing loss. Methods Parents of children aged 5–12 years were recruited nationwide in Sweden into three groups: children with congenital cytomegalovirus‐related ...
A. Michel Sandström, E. Karltorp, U. Löfkvist   +2 more
wiley   +1 more source

Mild form of aromatic L-amino acid decarboxylase deficiency. [PDF]

BMJ Case Rep
Kenina V, Dīriks M, Pūcīte E, Mūrmane D, Lace B.   +4 more
europepmc   +1 more source