Autosomal Recessive Rod-Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in BBS9.

Bardet-Biedl syndrome (BBS), one of the most common forms of syndromic inherited retinal diseases (IRDs), is characterized by the combination of retinal degeneration with additional extra-ocular manifestations, including obesity, intellectual disability, kidney disease, polydactyly and other skeletal abnormalities. We observed an Israeli patient with autosomal recessive apparently non-syndromic rod-cone dystrophy (RCD). Extra-ocular findings were limited to epilepsy and dental problems. Genetic analysis with a single molecule molecular inversion probes-based panel that targets the exons and splice sites of 113 genes associated with retinitis pigmentosa and Leber congenital amaurosis revealed a homozygous rare missense variant in the BBS9 gene (c.263C>T;p.(Ser88Leu)). This variant, which affects a highly conserved amino acid, is also located in the last base of Exon 3, and predicted to be splice-altering. An in vitro minigene splice assay demonstrated that this variant leads to the partial aberrant splicing of Exon 3. Therefore, we suggest that this variant is likely hypomorphic. This is in agreement with the relatively mild phenotype observed in the patient. Hence, the findings in our study expand the phenotypic spectrum associated with BBS9 variants and indicate that variants in this gene should be considered not only in BBS patients but also in individuals with non-syndromic IRD or IRD with very mild extra-ocular manifestations.

The Discrepancy between Subjective and Objective Measures of Convergence Insufficiency in Whiplash-Associated Disorder versus Control Participants.

PURPOSE: Motor vehicle accidents (MVAs) are a pandemic associated with human suffering and a burden to national economies. Whiplash-associated disorders (WADs) after MVAs are associated commonly with disability claims, many of which are related to vision. Convergence insufficiency (CI) leads to visual disability associated with symptoms of ocular discomfort. We examined the incidence of symptoms and findings consistent with CI in a cohort of patients after MVA-related WAD compared with age-matched control participants. DESIGN: Prospective cohort study. PARTICIPANTS: Patients with WAD after MVA were recruited from the Orthopedic Emergency Department between July 2014 and March 2017. Control participants were recruited among hospital personnel and relatives of WAD patients. METHODS: The Convergence Insufficiency Symptom Survey (CISS) questionnaire was completed by each participant, followed by a detailed visual examination including measurements of distance and near best-corrected Snellen visual acuity, distance and near cover test, Randot stereopsis, Maddox distance and Maddox-Thorington near heterophoria, near point of convergence, base-out step fusional reserves, and amplitude of accommodation using the push-away method. MAIN OUTCOME MEASURES: The CISS score and binocular measure findings of CI were recorded and analyzed using Student's t test, the chi-square test, and multiple logistic regression adjusted for age and gender. RESULTS: A pathologic CISS score of 16 or more occurred in 26 of 57 WAD patients (45.6%) compared with 6 of 39 control participants (15.4%; P = 0.002). Absolute CISS score was higher in the WAD group compared with the control group (15.3±10.0 vs. 7.7±7.7; P < 0.001). Findings consistent with CI occurred in 7.0% of WAD patients and 7.7% of control participants (P = 0.90). CONCLUSIONS: Visual symptoms suggestive of CI were reported more frequently among WAD patients compared with control participants, yet the incidence of examination findings indicating weakness of convergence was not increased. The discrepancy between subjective and objective measures of CI in WAD patients versus control participants stresses the importance of training healthcare personnel to assess disability using objective, validated standards of examination.

Central retinal vein occlusion in a migraine patient.

We describe a 31-year-old woman with a history of migraines without aura, who presented to our emergency department due to a monocular visual disturbance. This was misdiagnosed as being related to her migraine, however, it was subsequently found to be caused by a central retinal vein occlusion. Patients suffering from migraine can experience visual disturbances in the form of auras. The neuropathological basis for this phenomenon is thought to be a spreading depression in the visual cortex, causing a hemifield active visual phenomenon. Missing the diagnosis of central retinal vein occlusion is common, especially in the setting of an initially normal fundoscopy examination.

Unusual and benign course of idiopathic facial diplegia.

Bilateral facial nerve palsy or facial diplegia is a rare condition that occurs mainly in the context of Guillain-Barré syndrome. Its natural history has never been studied. We report four patients with isolated idiopathic bilateral facial nerve palsy with meningitis, no evidence of Guillain-Barré syndrome and rapid and complete recovery. Our report aims to draw attention to an unusual variant of bilateral facial palsy.