Probability of myopia in children with high refined carbohydrates consumption in France.

Background: Evaluate risk factors for paediatric myopia in a contemporary French cohort taking into account consumption of refined carbohydrates (starches and sugars).

Methods: An epidemiological cross-sectional study was conducted between May 2017 and May 2018. Two hundred sixty-four children aged 4 to 18 years attending the Centre Hospitalier Universitaire Gui de Chauliac in Montpellier were recruited.

Cone dystrophy or macular dystrophy associated with novel autosomal dominant mutations.

Purpose: Sixteen different mutations in the guanylate cyclase activator 1A gene (), have been previously identified to cause autosomal dominant cone dystrophy (adCOD), cone-rod dystrophy (adCORD), macular dystrophy (adMD), and in an isolated patient, retinitis pigmentosa (RP). The purpose of this study is to report on two novel mutations and the patients' clinical features.

Methods: Clinical investigations included visual acuity and visual field testing, fundus examination, high-resolution spectral-domain optical coherence tomography (OCT), fundus autofluorescence imaging, and full-field and multifocal electroretinogram (ERG) recordings.

A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.

Dominant optic neuropathies causing fiber loss in the optic nerve are among the most frequent inherited mitochondrial diseases. In most genetically resolved cases, the disease is associated to a mutation in OPA1, which encodes an inner mitochondrial dynamin involved in network fusion, cristae structure and mitochondrial genome maintenance. OPA1 cleavage is regulated by two m-AAA proteases, SPG7 and AFG3L2, which are, respectively involved in Spastic Paraplegia 7 and Spino-Cerebellar Ataxia 28.