부산대학교 도서관

Background Retinitis pigmentosa (RP) is a group of rare, inherited retinal disorders characterized by poor night vision, poor peripheral vision and an overall decline in visual acuity due to progressive degeneration of rod photoreceptors followed by cone photoreceptors. Aim To study the various manifestations, ocular and systemic associations of retinitis pigmentosa. Methods This is a case series of 18 patients of Retinitis Pigmentosa done over a period of 1 year. A brief history was obtained, followed by visual acuity assessment, complete ocular examination, direct and indirect ophthalmoscopy examination, and fundus photography. These patients were evaluated for systemic associations as well. Other specialty evaluations were advised when required. Results A total of 18 patients were included out of which 13 patients were males and 5 patients were females. Most of them were in the age group of 15-30 years. 60% of total patients had vision <6/60. Anterior segment findings include posterior subcapsular cataract in 50% and keratoconus in 5% of patients. Posterior segment findings include pigmentary bony spicules involving mid-periphery and beyond in 77%, central and patchy distribution in 23%. Consecutive optic atrophy was identified in 44%, cellophane maculopathy in 33%, cystoid macular edema in 5%. Myopic changes were found in 16%, glaucomatous changes in 11%. Sensorineural hearing loss was identified in 22%, polydactyly, truncal obesity and alopecia were noted in 1 patient each. Conclusion Retinitis Pigmentosa can be found in isolation (Typical RP) or in association with a variety of systemic disease presentation (Syndromic RP)- with Usher's syndrome being the most common syndromic association. Patients present with Nyctalopia, and peripheral vision loss. Visual acuity is affected late in disease but can be affected early due to Posterior Subcapsular Cataract, Cystoid macular edema, foveal atrophy. Electroretinography becomes abnormal very early in the disease and hence aids in diagnosis. Perimetry, Fluorescein angiography, Optical coherence Tomography are other imaging modalities. Low vision aids are useful to these patients. Gene therapy, Stem cell research, and retinal implants are various other treatment modalities available. [ABSTRACT FROM AUTHOR]