Cochlear Aqueduct Post-Natal Growth: A Computed Tomography Study.

The cochlear aqueduct (CA) is a bony canal located at the base of the scala tympani of the cochlea. It connects the inner ear perilymph fluid to the cerebrospinal fluid of the posterior cerebral fossa. Its function is not well understood, as it seems to be patent in only a fraction of adult patients.

Phenotypic variability related to dominant UCHL1 mutations: about three families with optic atrophy and ataxia.

Introduction: Ubiquitin C-terminal hydrolase L1 (UCHL1) has been associated with a severe, complex autosomal recessive spastic paraplegia (HSP79) [1] [2] [3] [4]. More recently, UCHL1 loss of function (LoF) variants have been associated to an autosomal dominant disease characterized by late-onset spastic ataxia, neuropathy, and frequent optic atrophy [5].

Methods: Routine clinical care whole-genome (WGS) and exome (ES) sequencing.

On punctate white matter lesions in preterm infants: Is ultrasound diagnosis feasible?

Objectives: To observe hyperechoic nodular or punctate white matter lesions (HNPL) in a population of preterm infants using routine cranial ultrasound (cUS), to describe the characteristics of HNPL, and to compare them with punctate white matter lesions (PWML) detected in magnetic resonance imaging (MRI).

Design: Retrospective observational single-center cohort study.

Setting: Level 2B neonatal unit in France.

TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa.

Retinitis pigmentosa (RP) is the most common inherited retinal disease (IRD) and is characterized by photoreceptor degeneration and progressive vision loss. We report 4 patients presenting with RP from 3 unrelated families with variants in TBC1D32, which to date has never been associated with an IRD. To validate TBC1D32 as a putative RP causative gene, we combined Xenopus in vivo approaches and human induced pluripotent stem cell-derived (iPSC-derived) retinal models.