Retinitis Pigmentosa Case Study

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NAME: Cassianna Sookram ID#: 812003173 DATE: 20.04.2016 CASE REPORT: Retinitis Pigmentosa (Pathology 2) ABSTRACT This case looks at the clinical findings, causes, signs, symptoms, diagnostic tests and management options of a patient with retinitis pigmentosa. Keywords: Retinitis Pigmentosa INTRODUCTION Retinitis pigmentosa (RP) is an inherited, degenerative eye disease that causes severe vision impairment due to the progressive degeneration of the rod photoreceptor cells in the retina. It may be inherited as autosomal dominant (seen often), recessive or X-linked. It must be noted that RP can also occur as an isolated sporadic disorder and it is associated with myopia. This disease has no preference for age, it can occur to anyone from early…show more content…
This comprises of attenuation of blood vessels, waxy disc pallor and a mottled appearance of the retinal pigment epithelium which is caused by the formation of bone spicule. Internal limiting membrane wrinkling, buried drusen of the optic nerve head, cystoid macula edema, cataracts (usually PSC) and vitreous pigmentation and syneresis may also be seen. Symptoms of this disease include night blindness, tunnel vision, photopsia, photophobia, difficulty adjusting from light to dark environments and vice versa, blurry vision, poor colour separation, loss of central vision (late stage) and blindness eventually. RP may occur as an isolated disease (non syndromic which is the typical form of disease) or in combination with systemic disease (syndromic). Usher syndrome is the most common form of syndromic RP. It is characterised by a combination of hearing loss and vision loss. Other genetic syndromes in which RP is a feature of are Barder-Biedl syndrome and Refsum…show more content…
His pupils were both equally round and reacting to light and there were no signs of an APD. Under dim conditions, pupil size was 5mm OU and decreased to 3mm OU in bright conditions. Hirschberg was slightly nasal in both eyes and confrontation fields were not good, patient was not able to see the fingers coming from the sides until they were directly in front of him. Pupillary distance was 64mm at far and IOPs were OD 15mmHg and OS 16mmHg at 8:05am using the NCT. Fundus assessment (done using ophthalmoscopy and fundus photos) showed CD ratio of 0.5 (H+V) OU which followed ISNT rule. The disc appeared slightly pale with healthy margins and peripapillary tissue. AV was ratio of 1:3, the macula appeared healthy and the foveal reflex was seen. Upon viewing the peripheral fundus, pigmentary mottling and bone spicule were seen in all four quadrants. Slit lamp assessment showed clear healthy lids and lashes with open puncta. The palpebral conjunctiva was healthy too, however, the bulbar conjunctiva showed pinguecula nasally in the right eye but the left was healthy. The cornea was clear for the exception of circumferential arcus OU. Iris degeneration was seen along with mild lens changes OU. The anterior chamber was free of cells and flares and the iridocorneal angle using Van Herrick technique was RE grade 4 temporally and LE grade 3

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