Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis [PDF]
, 2010 Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects 85% mutations in infantile neuroaxonal dystrophy.
Brady, Angela F +14 more
core +1 more source
Vitreoretinal complications and surgical outcomes in patients with X‐linked retinoschisis
Acta Ophthalmologica, EarlyView.Abstract Purpose X‐linked retinoschisis (XLRS) is an inherited vitreoretinal disorder characterized by macular retinoschisis. In a subgroup of patients, peripheral retinoschisis can occur, potentially leading to complications such as vitreous haemorrhage (VH) and retinal detachment (RD).
Jonathan Hensman +11 more
wiley +1 more source
Health-related quality of life of children with strabismus. [PDF]
Acta OphthalmolAbstract Purpose The agreement between children with strabismus and their parents on the health‐related quality of life (HRQOL) of the child is unknown. Additionally, it is unknown if physical traits pre‐dispose to a better outcome in HRQOL after strabismus surgery in children.
Boulakh L +5 more
europepmc +2 more sources
2016 International Orthoptic Congress Burian Lecture: folklore or evidence? [PDF]
, 2017 The theme of the 2016 Burian Lecture is how our understanding of strabismus has been changed by the research carried out in our laboratory in Reading over the years.
Anna M. Horwood +6 more
core +1 more source
Factors influencing the result of superior oblique weakening procedures in patients with superior oblique overaction in horizontal strabismus [PDF]
, 2020 Junwoo Chun, Seong-Joon Kim
openalex +1 more source
The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023
Acta Ophthalmologica, EarlyView.Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg +9 more
wiley +1 more source
Barnes Hospital Bulletin [PDF]
, 1986 https://digitalcommons.wustl.edu/bjc_barnes_bulletin/1239/thumbnail ...
core +1 more source
Common visual problems in children with disability [PDF]
, 2014 Children with disability are at a substantially higher risk of visual impairment (VI) (10.5% compared with 0.16%) but also of ocular disorders of all types, including refractive errors and strabismus.
Salt, A, Sargent, J
core +2 more sources
Reply: “Leigh Syndrome Due to the Variant c.1019T>C in COX15”
Movement Disorders Clinical Practice, EarlyView.
Haya S. AlFaris +8 more
wiley +1 more source