BCVA data for EUPATCH randomised controlled trial

This is a dataset associated with the publication: "Extended Optical Treatment versus Early Patching with a High-Dose Patching Regimen in Amblyopia: A Multicentre Randomized Controlled Trial",  published by the EUPATCH consortium. Authors: Frank Proudlock, Michael Hisaund, Gail Maconachie, Eleni Papageorgiou, Ali Manouchehrinia, Annegret Dahlmann-Noor, Payal Khandelwal, Jay Self Christina Beisse and Irene Gottlob. The dataset contains best-corrected visual acuity data from amblyopic and fellow eyes at key points in the trial along with demographic data. For furthe information on how to gain access please contact Frank Proudlock ([email protected]), Michael Hisaund ([email protected]) or Irene Gottlob ([email protected])</p

Extended Optical Treatment versus Early Patching with a High-Dose Patching Regimen in Amblyopia: A Multicentre Randomized Controlled Trial

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SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialisation.

Foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis is an autosomal recessive disorder arising from SLC38A8 mutations. SLC38A8 is a putative glutamine transporter with strong expression within the photoreceptor layer in the retina. Previous studies have been limited due to lack of quantitative data on retinal development and nystagmus characteristics. In this multi-centre study, a custom-targeted next generation sequencing (NGS) gene panel was used to identify SLC38A8 mutations from a cohort of 511 nystagmus patients. We report 16 novel SLC38A8 mutations. The sixth transmembrane domain is most frequently disrupted by missense SLC38A8 mutations. Ninety percent of our cases were initially misdiagnosed as PAX6-related phenotype or ocular albinism prior to NGS. We characterized the retinal development in vivo in patients with SLC38A8 mutations using high-resolution optical coherence tomography. All patients had severe grades of arrested retinal development with lack of a foveal pit and no cone photoreceptor outer segment lengthening. Loss of foveal specialization features such as outer segment lengthening implies reduced foveal cone density, which contributes to reduced visual acuity. Unlike other disorders (such as albinism or PAX6 mutations) which exhibit a spectrum of foveal hypoplasia, SLC38A8 mutations have arrest of retinal development at an earlier stage resulting in a more under-developed retina and severe phenotype