 Okay. Good morning. Good morning. I think we'll try and get started. We have two presentations this morning, so I don't want them to not have enough time. Our first presenter is Angela Peters, and she's with the Neurology Department, and she'll be talking about neurogenic muscular weakness, ataxia, and retinitis pigmentosa. And then Jim Bell will talk about acute unilateral vision loss with neck stiffness. Hi. Thank you. We had a very interesting patient come into our neurophthalmology clinic. Ended up getting a diagnosis of neuropathy, ataxia, and retinitis pigmentosa. Just briefly, I'm going to present her a little bit about this disease. She is a 55-year-old lady. She was diagnosed with RP at age 17. She had numbness in her extremities for many years and in balance issues, which became progressively worse, and now she uses a cane. She also has this neuropsychiatric overlay, bipolar, effective disorder, depression. But most recently, and this was actually her chief complaint, she had a lot of short-term memory issues. She also had elevated intraocular pressures, bilateral lens implants, sensory and neural hearing loss. And interestingly, she has a family history. Her mother has balanced problems and night blindness. She has a 21-year-old daughter with possible RP and a five-year-old grandson with night vision problems as well. On her exam, this was her acuity. She had severely constricted visual fields bilaterally. She had a slight right ptosis, absent reflexes, positive rhomburg, impaired sensation, and she had a very fine, postural tremor with this dyadolcomnesia. Here's a picture of her fundus. And as you can see, she had very pale optic nerves, very attenuated vessels and prominent bony spicules in the periphery. We wanted to get an ERG. We tried to get an ERG. However, the patient did not tolerate it. She did have a normal EEG, but this was done in the outside institution. We felt that her constellation symptoms were consistent with the diagnosis of NARP. NARP was first reported by Holtz and others in 1990. It is usually milder than its related lay syndrome. It is a clinically heterogeneous syndrome, and patients show a variety of clinical manifestations such as migraine, sensory neuropathy, proximal muscle weakness, and neurogenic weakness, ataxia, seizures, dementia, and a pigmentary retinopathy. You can have other clinical features as well like a short stature, sensory neural hearing loss, a progressive external ophthalmoplasia, cardiac conduction deficits like a heart block, and a mild anxiety disorder, which can progress to kind of a dementia picture. Visual symptoms may be the only clinical feature and certainly can be the first presenting feature. NARP is caused by myocondrial DNA substitution of leucine by an arginine residue in myocondria ATP6, which codes for the ATP synthase, the last component of the respiratory chain. Mutations here can cause two clinical syndromes. Patients with greater than 90% of this mutation have the severe neurodegenerative condition known as subacute necrotizing encephalomyopathy or lay syndrome, although it should be noted that lay syndrome can also be caused by other mutations. Carriers with less than 75% mutation may show pigmentary retinopathy, suffer from migraines, or may be completely asymptomatic. Patients with NARP generally carry around 80% of the mutant DNA. Ophthalmologic manifestations of NARP starts usually a progression of retinopathy with the salt and pepper retinopathy. After the visual fields become very constricted, the fundus examination will show a diffuse peripheral bone spicula formation, optic pallor, and arteriolar attenuation which is consistent with the classic retinitis pigmentosa. The ocular abnormalities in NARP syndrome were reported in most cases as typical RP or as pigmentary retinopathy. It has been described in one case series as a bone spicula pigmentation in the mid periphery, but with normal ERG except for subnormal photopic responses. In another report, the ocular management manifestations ranged from a mild salt and pepper retinopathy to a severe RP-like change with maculopathy. There is another paper as well that describes the progression of this retinopathy as often starting with the salt and pepper retinopathy and then progressing to a diffuse peripheral bone spicula formation. Optic pallor and arteriolar attenuation also consistent with the typical retinitis pigmentosa. NARP may also present as a bullseye maculopathy and a retinal dystrophy that primarily affects the cones. There are also some case reports of a cone-raw dystrophy and the cone dystrophy is a primary manifestation showing that the ocular abnormalities of this condition can be remarkably variable. This is a brief list, not so brief list, of neurologic diseases that are classically associated with RP of some form. As we know, there are diverse syndromes to which retinitis pigmentosa can be linked. Of course, there are many congenital anomalies and retinal diseases beginning in infancy that can result in blindness and mycroflamia. Many neurologic diseases are associated with a progressive optic neuropathy and retinal degenerations. However, unlike the optic atrophy of lever, which affects only the third neuron in the visual chain, retinitis pigmentosa affects both the neuroepithelium and the pigment epithelium and these are just some of the diseases that are associated with retinopathy. Diagnosis and management of NARP, there are genetic testing available for NARP and genetic counseling should be offered as it was in this patient. EEG, EMG and MRI should be performed if it's clinically indicated and unfortunately, treatment is supportive at this time. As in other mitochondrial diseases, people are using antioxidants, but there's been no really good studies that show proven benefit. And then this is a list of patient resources that are available. You can find them on the NCBI website. It's my reference. Thanks, they did do mutation analysis and it was the same mutation. All patients, they called the dystrophy and then the other thing is based on the genetic burden. And there are people who have this, families that have been studied and then they will do genetic analysis and there are people who have, you know, 65, 70 percent and their only manifestation might just be very clear. There's some other, some people use bilberry.