Neuro-Ophthalmology Interview With Onur Melen

Interview with Dr. Onur Melen about his career in neuro-ophthalmology

The Optic Nerve Between a Rock and a Hard Place - Neuro-Ophthalmologic Complications of Osteopetrosis

16 year old female presented with episodes of "blacking out" with positional changes, along with daily headaches and a recent history of acne, for which she was started on doxycycline. In the past year, she had also been diagnosed with early osteopetrosis; a condition her father had been diagnosed with as well

Acquired Comitant Esotropia following Botulinum Toxin Injection: A Brief Case Series

Diplopia is an uncommon but well described side effect of botulinum toxin treatment to the eyelids with an incidence ranging from 1.7 to 2.1%, with small cohorts reporting as high as 14%[1]. Diplopia is typically transient and has been previously described as the result of paresis of one of the extraocular muscles due to diffusion of toxin beyond the orbital septum[2] and most commonly involves the inferior oblique[3] and less frequently the inferior, superior, and lateral rectus[4] leaving an incomitant deviation. To contrast this, we are presenting three cases of comitant esotropia following injection of botulinum toxin to the eyelids and periocular areas

Identification of TMEM230 mutations in familial Parkinson's disease

Parkinson's disease is the second most common neurodegenerative disorder without effective treatment. It is generally sporadic with unknown etiology. However, genetic studies of rare familial forms have led to the identification of mutations in several genes, which are linked to typical Parkinson's disease or parkinsonian disorders. The pathogenesis of Parkinson's disease remains largely elusive. Here we report a locus for autosomal dominant, clinically typical and Lewy body-confirmed Parkinson's disease on the short arm of chromosome 20 (20pter-p12) and identify TMEM230 as the disease-causing gene. We show that TMEM230 encodes a transmembrane protein of secretory/recycling vesicles, including synaptic vesicles in neurons. Disease-linked TMEM230 mutants impair synaptic vesicle trafficking. Our data provide genetic evidence that a mutant transmembrane protein of synaptic vesicles in neurons is etiologically linked to Parkinson's disease, with implications for understanding the pathogenic mechanism of Parkinson's disease and for developing rational therapies