Introduction: Infantile nystagmus has many causes, some life threatening. We determined
the most common diagnoses in order to develop a testing algorithm. Methods: Retrospective …

Background: In this report we describe, for the first time, the activation of the peripheral
immune compartment in a patient with a CRB1 linked retinal degenerative disease …

Purpose To investigate the prevalence and progression of vitreo-macular interface disorders
(VMID) phenotypes and their natural history in retinitis pigmentosa (RP). Methods A total of …

Purpose: To report a case of CRB1-associated retinal dystrophy characterized by vitritis,
retinal capillaritis, and cystoid macular edema (CME). Methods: A case report. Results: An 8 …

Purpose To describe the unusual case of inflammatory CRB1-associated retinal dystrophy
that initially presented with self-resolving opsoclonus. Observations We report the case of a …

The aim of this review is to provide an update on both the differential diagnosis of
intermediate uveitis (IU) and the special investigations that may be required to determine the …

Visual unresponsiveness in an otherwise healthy baby is an alarming finding. Parents are
staring down the cannon at a lifetime of potential blindness in their baby and are …

Abstract Background: Ophthalmologic studies of Juvenile Neuronal Ceroid Lipofuscinosis
(JNCL) have focused mainly on retinal involvement, and so far no anterior segment …

Purpose: To evaluate the presence of American College of Medical Genetics and Genomics
(ACMG) class 3, 4 and 5 genetic variants in inherited retinal disease (IRD) genes in …

The manifestation of intermediate uveitis (IU) in patients with retinitis pigmentosa (RP) is
uncommon and poses diagnostic and management challenges. In this case, we describe …