S.Bakhtavar MD Isfahan University of Medical Sciences 1390 - 2012

2. S.Bakhtavar MD Isfahan University of Medical Sciences 1390 - 2012

3. RP( وراثت ؛ تشخیص ؛ درمان )

4. Retinitis pigmentos • Definition: Rp defines a clinically & retinal gentically diverse group of different retinal dystrophy initially affecting the rod photoreceptor cells with subsequent. • Degeneration of cones and pigment epithelial function (rod-cone- dystrophy and RPE dys function) • It is the most commonly encountered

5. Hereditary fundos dystrophy with a prevalence of approximately

6. RP Definition The pigmentary retinopathy can be divided into tow large group 1. primary RP in which the disease process in confined to the eye’s with no other systemic manifestation.

7. 2- Secondary pigmentaryretinepathy in which the retinal degeneration is associated with single or multiple organ system

8. Inheritance The age of onset, rate of progression eventual related to the mode of inheritamce RP may occur as an isolated sporadic disorder or be inherited as AD.AR or XL

9. Many cases are due to mutation of rhodopsine gene. XL is the least common but most severe form and may result in complete blindness by the third or four the decade. Female carriers may have normal fundos or show a golden – metal (tapetal) reflex at the macula and or small peripheral pathes of bone spicule pigmentation

12. RP often atypical may also be associated with systemic disorder which are usually AR.

13. Inheritance of RP • AD There are currently at least 12 form (of ADRP) • ADRP accounts for %10 - %20 of RP cases depending on the country surveyed

14. AR autosomal recessive RP (ARRP) represent about %20 of RP cases At least 15 Genetic type of ARRP have been identified.

15. Xlinked RP account for about %10 of RP in USA and %25 in england¸up to %40 of case presenting in the USA have no family history.

16. Diagnose The diagnosis criteria for RP comprise bilateral involvement with loss of peripheral and night vision. The classical triad of RP a ( arteriolar attenuation )b) rtinal bone spicule pigmentation and )c) ( waxy disc palor)

17. Presentation: Nyctalopia often during the 2nd – 3rd decade though may be earlier or later depending on the pedigree.

18. Sign in chronological order: A) Subtle mid-peripheral RPE atrophy associated with mild arteriolar narrowing and mid-peripheral intraretinalperivascular bone - spiculepigmentary change

20. B) Gradual increase in density of the pigmentary change with arteriolar and posterior spread.

22. C) Tesselatedfunus appearance . Due to RPE atrophy and unmasking of large choroidal vessels.

24. D) Severe arteriolar narrowing and gliotie waxy pallor of the optic disc.

26. E) The macula may show atrophy, epiretinal membrane formation and CMO. The latter may respond to systemic acetazolamide

27. ERG in early disease shows reduced Scotopic rod and combined responses¸ later photopierespone become reduced and eventually the ERG become extinguished uished.

29. ERG Both a and bwave are reduced . bwave are characteristically prolonged in time as well as diminished in amplitude. • The carrier state of xlinked recessive RP often shows amild reduction or delay in bwave. An undectatable ERG is not diagnose of RP but simply document severe retinal degeneration.

30. EOG is subnormal with an absence of the light rise.

31. Perimetry initially demonstrate small mid peripheral scotoma that gradually. • Coalesce to form the classical annular scotoma. which expands both peripherally and centrally. • It ultimately leaves a tiny island of centeral vision which may eventually be extinguished. • Perimetry is useful in monitoring the progression of disease.

32. Prognosis is variable and tend to associated with the mode of inheritance follow.

33. XL disease has the worst prognosis with severe visual loss by the 4th decade. • AR disease and sporadie cases have a more favourable prognosis with retention of centeral version untile (the 5th -6th decade) on later. • AD disease generally has the best prognosis with retention of centeralvirsion beyond the 6th decade.

34. 1- Ocular association . Posterior sub capsular cataract. are common in all form of RP. surgery is often beneficial. 2- Open – angle – glaucoma occurs in 3% of cases. 3- Myopia is common. 4- Keratoconus is un common. 5- Vitreous change which are common consists of posterior Vitreous detachment and occcasionally in termediateuveitis

35. 6-Optie disc drusen. Occur more frequently in patients with RP. 7- Coats like diseasewith’lipd deposition in the peripheral retina and exudative RD

37. Atypicad retinitis pigments Atypical RP describes conditions that are closely related to typical RP or represent in complete forms of the disease.

38. Atypical RP 1- Cone-rod dystrophy • In which the cone component is affected earlier and more severely then in typical RP presentation is with impairment of central vision and not with nyctolopia. • Examination may show a macular lesion with or without peripheral change

39. Atypical RP 2- RP sine pigment is characterized by absence or paucity of pigment accumulation which may subsequently appear with time

41. Atypical RP 3- Retinitis punctatealbescens In an AR variant characterized by scattered whitish-yellow spot. • Most numerous at the equator. • Usually sparing the macular. • And associated with arteraiolar attenuation they are similar to the spot in fundousalbipunctatus but often have a more radial pattern

43. Sector RP is an AD variant RP Characterized by involve ment of inferior quadrants : • Or 1 or 2 sector of the fundus • Progression is slow and many cases are stationary. • Many of there cases show an unusually deep demarcation between affected and unaffected area of the retina in contrast to the diffuse damage of more typical RP the important of recognizing these forms is that some are either non progressive or very slowly progressive.

45. Sectoral RP is generally symmetric the 2eyes which helps to r/o acquired damage. (From trauma, vascular insult or in flamation)

46. Sector RP Carriers of x linked RP can have fundus finding that appear as a sectorialpigmentaryretinpathy . because there is evidence that the sectorial loss in many cases is related to light toxicity in patients with rhodopsin mutations , UV light protection and anti oxidant vitamin are reasonable recommend for regional disease.

47. Atypical RP • Some patient with RP like disease present with macular involvement or markediy reduced V/A very early in the course of disease, which is unusual for RP. • Field loss may progress outward from center rather than in ward (central (RP) )

48. Atypral RP • Other patients show a tight ring scotoma within the central 20' or 30'(pericentral(RP)) • This group of regional variants is probably heterogenous, because most of the casesesapper sporadic and few have been well characterized clinically or generentally.

49. Atypical RP • Unilateral RP is a rare disorder that is usually sporadic. • The vast majority of unilatreradpigmentary retinal degeneration are likely to have an acquired origin. Such as A) previus vascular occlusion. B) prior RD . C) trauma D) uveitis, E) infection, F) or retained metallic intra ocular foreign body.

50. To make a diagnosis of true unilaleral RP. The clinician must R/O such secondary causes, document a normal ERG in the unaffected eye and follow the patient for at least 5years to R/O bilateral asymmetric disease.