Related Experiment Video
Updated: Aug 19, 2026

Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo
Published on: September 22, 2017
Acro-oto-ocular syndrome: further evidence for a new autosomal recessive disorder
D R Bertola1, L M Wolf, H V Toriello
1Department of Pediatrics and Human Development, Michigan State University, East Lansing 48824-1317, USA.
Abstract:
We report on a patient born to consanguineous parents and presenting with pseudopapilledema, mixed hearing loss, and minor facial and limb anomalies. To our knowledge, there is just one similar description of this syndrome in three members of a Brazilian kindred whose parents were also consanguineous, suggesting autosomal recessive inheritance. We compare the findings of our patient with these previous reported cases and discuss the differential diagnoses of this new syndrome, which we suggest be named the acro-oto-ocular syndrome.
More Related Videos
07:50A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
Published on: September 20, 2018
07:08Using Optical Coherence Tomography and Optokinetic Response As Structural and Functional Visual System Readouts in Mice and Rats
Published on: January 10, 2019
Related Concept Videos
Genetic Lingo
Sex-linked Disorders
The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Glaucoma: Overview
Photoreceptors and Visual Pathways