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A clinico epidemiological study of retinitis pigmentosa and associated syndromes – A prospective observational study

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Original Article

Author Details : Balaji Gopinath, Niranjan Karthik Senthil Kumar*

Volume : 8, Issue : 3, Year : 2022

Article Page : 368-373

https://doi.org/10.18231/j.ijceo.2022.075

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Abstract

Aim: To analyze clinico-epidemiological trends in Retinitis Pigmentosa (RP) cases and syndromes associated with RP.
Materials and Methods: This is a prospective observational case series. All cases found to have clinical features suggestive of RP were studies. The period of study was for twelve months. Detailed history taking, General and ocular examinations were performed meticulously to look for various associations and findings related to RP.
Results: Among 55 patients of Primary RP, 38 (69%) were males and 17 (31%) females. 69.9% had the onset in 1 decade, 14.5% in 2 decade and 16.36% beyond 2 decade. In 1 decade of life, pattern of inheritance showed a predominance of autosomal recessive pattern (34.5%) followed by sporadic (27.2%). 30 out of 55 cases (54%) had positive family history of night blindness while remaining 25(46%) were sporadic in nature. 40 (72.7%) had typical RP, 4 cases had atypical RP (7.2%) and 11 (20%) syndromic RP. Of 11 cases which had syndromic associations, most common was Usher syndrome being 5 (45%). Regarding treatment, myopia was corrected with best glasses in 25 cases and 5 required low vision aids. 35 cases (64%) maintained visual acuity and fields.
Conclusion: Retinitis pigmentosa presents in an isolated or syndromic manner (20%). Periodic testing helps in timely detection of progression of disease. Correction of refractive error and use of low vision aids allows patients to pursue many activities of daily living better. Supportive genetic counselling and utility of ERG in detecting early loss of photoreceptor function.
 

Keywords: Syndromic associations, Bardet biedl syndrome.

How to cite : Gopinath B, Kumar N K S, A clinico epidemiological study of retinitis pigmentosa and associated syndromes – A prospective observational study. Indian J Clin Exp Ophthalmol 2022;8(3):368-373

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