Pseudonystagmus in trochlear nerve palsy.

We present the case report of a patient who presented with intermittent diplopia and left hypertropia associated with an apparent left superior oblique palsy. After dissociation with cover testing, he showed conjugate rhythmic vertical eye movements present in all gazes, thought to represent rapid rhythmically alternating fixation. The vertical rhythmic movement resolved after strabismus surgery.

New Insights on the Genetic Basis Underlying SHILCA Syndrome: Characterization of the Pathological Alterations Due to Compound Heterozygous Mutations and Identification of a Novel Alternative Isoform.

This study aims to genetically characterize a two-year-old patient suffering from multiple systemic abnormalities, including skeletal, nervous and developmental involvements and Leber congenital amaurosis (LCA). Genetic screening by next-generation sequencing identified two heterozygous pathogenic variants in nicotinamide mononucleotide adenylyltransferase 1 () as the molecular cause of the disease: c.439+5G>T and c.

Frontalis Muscle Flap Versus Maximal Anterior Levator Resection as First Option for Patients With Severe Congenital Ptosis.

Purpose: To compare 2 surgical techniques (frontalis flap versus maximal anterior levator resection) as first surgical options for the treatment of congenital ptosis with poor levator function in patients younger than 2 years of age with a follow up of 10 years.

Methods: A retrospective study of 58 patients (71 eyelids) with severe ptosis and poor levator function who underwent frontalis muscle flap (FMF = 47) or maximal anterior levator resection (ALR = 24) for correction of their ptosis. Eyelid measurements were taken at baseline, 1, 5, and 10 years after surgery.

Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.

Background: Microphthalmia and anophthalmia (MA) are congenital eye abnormalities that show an extremely high clinical and genetic complexity. In this study, we evaluated the implementation of whole exome sequencing (WES) for the genetic analysis of MA patients. This approach was used to investigate three unrelated families in which previous single-gene analyses failed to identify the molecular cause.