Approach to a case of Retinitis Pigmentosa.pptx

This PPT is about "How to approach a case of Retinitis Pigmentosa?"

1. Approach to case of Retinitis Pigmentosa (R.P.) Presented by:- Dr.Ranjita Amanatya PG 3 rd year VIMSAR, BURLA

2. INTRODUCTION Retinitis Pigmentosa (RP) is a retinal Dystrophy affecting the rod photoreceptors OR Abiotrophy of neuro-epithelium (photoreceptors). Presents in the 2 nd & 3 rd decade.

3. X-linked variants present very early in childhood Autosomal recessive (AR) variants present around 10-20 years of age. Autosomal dominant (AD) variants present later. Least common Most severe Worst prognosis

4. PATHOPHYSIOLOGY Genetic mutation of Proteins involved in phototransduction cascade e.g :-Rhodopsin gene mutation Rod cell death by Apoptosis RPE dysfunction/death Mid peripheral visual field loss progressing to tunnel vision Ganglion cell death Defective night vision & Defective dark adaptation Melanin pigment release into retinal layers RPE discolouration d/t RPE atrophy ( Tesselated fundus ) Jet black spots resembling “bony spicules” Seen in mid-periphery Sheathing veins>arteries Eventual weakening of vessels Arteriolar attenuation Consecutive Optic Atrophy Waxy pale disc with gliosis

5. Dark adaptation difficulty Night blindness Progressive loss of peripheral visual field Gradual decrease in visual acuity Acquired tritan colour vision defect HISTORY Chief complaint 1 2 3 4 4

6. In low light have night blindness. In bright light experience “ white out” glare Constriction of visual field with preserved central vision Begins in childhood/adolescence Initial symptom is difficulty in dark adaptation HOPI 1 2 3

7. To r/o systemic associations of R.P. Important in X-linked & AR variants. A 3 generation pedigree chart should be prepared . Family history HOPI

8. General examination To r/o associated Sensory neural hearing loss Vestibular nerve function Ataxia Speech d/o Sleep disturbance Headache

9. Forward shifting of iris lens diaphragm d/t zonular weakness. RAPD can be absent in spite of optic atrophy as RP is B/L d/o Usually WNL Fat atrophy of orbits d/t frequent rubbing Keratoconus may be seen. Myopia is common association (22to75%) Myopia of about -2D Normal in early cases Central V . A. loss:- CME ERM Complicated cataract Ocular Examination V.A. Eyeball Lid/Conjunctiva/ Cornea/Sclera Iris Pupil IOP Increased in cases with R.P. with glaucoma, open angle glaucoma.

10. Ocular Examination Lens Vitreous PSC in some cases( 41 to 53%) Vitreous degeneration & early PVD can occur. Dust like particles seen in early R.P. before fundus changes are apparent.

11. Fundus Arteriolar narrowing (M.C.) Pigmentary changes Atrophy of macula, ERM Waxy pallor O.D. Golden ring around O.D. O.D. drucen

12. Carrier of X-linked RP Tapetal reflex at the macula Mid-peripheral pigmentary changes

13. Pigmentary changes Pigment clumps in a form of “bony spicules” Earliest changes:- Fine dust-like intraretinal pigmentation & loss of pigment from pigment epithelium 1 2

14. STAGING Early stage Mid stage End stage Occurs in 1 st yr of life Night blindness Minimal visual field defect Normal fundus appearance Decreased b wave amplitude in ERG Peripheral V.F. defect in day light Fundus changes include bony spicules like pigmentary changes, attenuated vessels & O.D. pallor Tunnel vision Decreased V.A. d/t cone involvement Tesselated fundus

15. Atypical R.P. Retinitis pigmentosa sine pigmento Retinitis punctata albescens Sectoral R.P. R.P. inversus / Pericentric R.P. U/L R.P. Paravenous R.P. 1 2 3 4 5 6

16. SyndromicRP Laurence –Moon- Bardet - Biedle syndrome Usher syndrome Refsum disease Bassen-Kornzweig syndrome Friedrich –like ataxia with RP Kearn -Sayre syndrome

17. Usher syndrome Laurence –Moon- Bardet - Biedle syndrome M.C. type of syndromic R.P. Polydactyly + Mental retardation + Bull’s eye maculopathy Syndromic R.P.

18. Kearn -Sayre syndrome Refsum disease Mitochondrial inheritance + Chronic progressive external ophthalmoplegia Phytanic acid accumulation

19. Friedrich – like ataxia with RP Bassen-Kornzweig syndrome/ Abetalipoproteinemia Acantocytes in blood film

20. Complications Keratoconus Posterior Subcapsular Cataract Open Angle Glaucoma Occasional Intermediate Uveitis Exudative Vasculopathy

21. Investigations ERG Visual field OCT Fluorescein angiography Ultra widefield imaging Colour vision & contrast sensitivity Genetic analysis

22. ERG

23. Visual field Initially small mid-peripheral scotoma seen A tiny island of residual central vision seen in progressive cases

24. OCT

25. Fluorescein angiography

26. Ultra widefield imaging

27. Differential diagnosis Pseudo-R.P. Choroideremia Gyrate atrophy of retina & choroid 1 2 3

28. Leber congenital amaurosis Pigmented paravenous chorioretinal atrophy 4 5

29. 1 2 3 4 5 6 7 8 9 10 Management Smoking should be avoided Optical aid & light protection Vitamin A palmitate Increased intake of docosahexaenic acid & lutein – zeaxanthin Systemic carbonic anhydrase inhibitors Intravitreal triamcinolone & anti-VEGF injections Cataract extraction

30. Reference 1) Girach , A.; Audo , I.; Birch, D.G.; Huckfeldt , R.M.; Lam, B.L.; Leroy, B.P.; Michaelides , M.; Russell, S.R.; Sallum , J.M.; Stingl , K.; et al. RNA-based therapies in inherited retinal diseases. Ther . Adv. Ophthalmol . 2022, 14, 25158414221134602. 2)White, J.; Knight, L.; da Cruz, L.; E Stanga , P.; Patrick, H.; Powell, H.; Berry, L.; Withers, K.; Carolan -Rees, G.; Jackson, T.L. Effects of the Argus II Retinal Prosthesis System on the Quality of Life of Patients With Ultra-Low Vision Due to Retinitis Pigmentosa : Protocol for a Single-Arm, Mixed Methods Study. JMIR Res. Protoc . 2021, 10, e17436.[PubMed] 3) Tuekprakhon , A.; Sangkitporn , S.; Trinavarat , A.; Pawestri , A.R.; Vamvanij , V.; Ruangchainikom , M.; Luksanapruksa , P.; Pongpaksupasin , P.; Khorchai , A.; Dambua , A.; et al. Intravitreal autologous mesenchymal stem cell transplantation: A non-randomized phase I clinical trial in patients with retinitis pigmentosa . Stem Cell Res. Ther . 2021, 12, 52.

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