corneal dystrophy and corneal disorders (1).pptx

Corneal dystrophies are classified based on different layers of cornea.

1. CORNEAL DYSTROPHY

2. Cornea

3. D ystrophy Dys meaning wrong or difficult Trophe means nourishment Corneal dystrophy is a progressive eye disease that causes fluid or abnormal materials to build up in the cornea. The cornea forms part of the eye, covering the iris and pupil. It comprises transparent, protective layers (five in total) and helps focus light that reaches the lens. 

4. Difference

5. Introduction Non-inflammatory corneal opacifying disorders Characteristic features: Usually have a strong pattern of inheritance Bilateral and symmetrical Systemic and environmental factors have no effect Slowly progressive Begin early in life but appear later

6. Classification based on anatomic position Epithelial and Sub-epithelial dystrophy Bowman layer dystrophy Stromal dystrophy Descemet membrane and Endothelial dystrophy

7. IC3D Classification

8. Epithelial and Sub-Epithelial Dystrophy

9. Epithelial Basement Membrane Dystrophy Syn. Map-Dot -Fingerprint dystrophy or Cogan microcystic dystrophy Most common dystrophy Often sporadic Autosomal- dominant

10. EBMD photo

11. Clinical findings Woman age >50 yr Grey patches, fine lines, and microcyst s Recurrent epithelial erosions Transient blurred vision Can cause irregular astigmatism

12. Histopathology Thickening of basement membrane Deposition of fibrillary protein between basement membrane and BM Treatment: 5% NaCl drops or ointment Lubricating drops/ ointment Debridement of the loosened epithelium Excimer laser phototherapeutic keratectomy (PTK)

13. Meesman Epithelial Dystrophy Syn. Juvenile hereditary epithelial dystrophy AD Slowly progressive Asymptomatic Recurrent erosion and blurring Signs: Myriad tiny intraepithelial cysts(centrally to limbus) Whorled and wedge-shaped epithelial patterns

14. Histology Irregular thickening of epithelial basement membrane and intraepithelial cyst Fibro granular material surrounded by cytoplasmic filaments Treatment Lubrication for minute erosion Soft contact lenses

15. Lisch epithelial corneal dystrophy Syn. Band shaped and whorled microcystic dystrophy X-linked dominant Onset: childhood Diffuse greyish epithelial opacities, densely packed microcysts Pronounced vacuolization of epithelial cells

16. Corneal dystrophies of Bowman’s Layer

17. Reis-Buckler’s corneal dystrophy Syn. Corneal basement dystrophy type 1 AD Severe recurrent corneal erosion, visual impairment

18. Histology Replacement of corneal Basement Membrane by connective tissue bands Eosinophilic and fibrotic material beneath the epithelium and in anterior stroma ( Rod Shape deposition)

19. Thiel Behnke Corneal Dystophy Syn. Honeycomb-shaped corneal dystrophy or Corneal basement dystrophy type 2 Less severe than Reis-Buckler’s dystrophy AD Recurrent erosions in childhood

20. Histopathology Wavy sub-epithelial fibrosis with disruption of BM and of epithelial basement membrane (Saw tooth appearance) Treatment T/t of recurrent erosion Superficial keratectomy, excimer laser phototherapeutic keratectomy Lamelar keratoplasty Penetrating keratoplasty

21. Stromal dystrophy Lattice corneal dystrophy Granular corneal dystrophy Macular corneal dystrophy

22. Granular corneal dystrophy type 1 AD Deposition of small, discrete, sharply demarcated dystrophy Greyish-white opacity in anterior-central stroma Spare limbus

23. Histopathology Eosinophilic, rod or trapezoidal shaped hyaline deposits in stroma Treatment Deep lamellar keratoplasty

24. Granular corneal dystrophy type 2 Syn. Avellino corneal dystrophy; Combined granular lattice dystrophy AD Recurrent erosion, visual impairment Signs: Anterior, stromal, discrete grey-white granular deposit Mid to posterior stromal lattice lesions Anterior stromal haze

25. Histology Hyaline and amlyoid Treatment Contact lens Artificial tear Epithelial erosions

26. Surgery Superficial Deep Superficial keratectomy Lamellar keratoplasty Phototherapeutic keratectomy PK – recurrence as early as 1 year

27. Macular corneal dystrophy AR Clinical findings Least common Clear at birth and cloud between age 3-9 Focal gray – white opacities with indistinct edges Stroma between opacities is diffusely cloudy

28. Pathology GAGs that stain with Alocian blue and colloidal iron Treatment Treat erosion s PKP/ DALK Recurrence

29. T/t continue; Contact lenses Artificial tear Surgery Superficial keratectomy Lamellar keratoplasty Phototherapeutic keratectomy PK Epithelial erosions

30. Lattice dystrophy AD Bilateral Primary, localized corneal amyloidosis

31. Pathology Amyloid deposits concentrated in anterior stroma Management: Patching, hypertonic agents , contact lenses, superficial keratectomy or PTK Severe cases treated with PKD Recurrence more common than other stromal dystrophies

32. Schnyder corneal dystrophy AD Findings: Rare and slow progressive Central opacification, dense arcus Mid peripheral full thickness opacification Decreased corneal sensation

33. Pathology Accumulation of cholesterol and phospholipid in Bowman layer and adjacent anterior stroma Treatment Lipid profile PTK Lamellar Keratoplasty

34. Descemet’s Membrane and Endothelial Dystrophy

35. Fuch’s endothelial corneal dystrophy Syn. Endo epithelial corneal dystrophy Inheritance- occasional AD, sporadic, bilateral Female preponderance Onset > greater than 50

36. Symptoms Decrease in vision (oedema) Pain (ruptured bullae), pain subsides once fibrosis occurs Clinical findings Corneal guttae (central to periphery) Decompensated cornea with stromal edema Epithelial edema , microcysti c edema Subepithelial fibrosis

37. Specular microscopy Polymorphism, polymegathism , decreased endothelial cell count

38. Stages:

39. Treatment Nacl / Hypertonic solution 4 times a day Beta blockers BCL (bandage contact lens) when expose nerve ending to relieve pain + Cycloplegic + antibiotic

40. Surgical Management Amniotic membrane graft Bowman’s cautery Conjunctival flap Corneal transplant DSAEK/ DMEK ( Descement membrane endothelial keratplasty , PKP( penetrating keratoplasty)

41. Posterior polymorphous corneal dystrophy Syn. Schlichting dystrophy AD Unilateral Clinical findings Isolated group vesicles Geographic-shaped, discrete, gray lesions Broad bands with scalloped edges

42. Pathogenesis Focal metaplasia of endo -epithelial cells into keratinized epithelial-like cells Treatment Majority require no treatment Keratoplasty for corneal opacification

43. Congenital hereditary endothelial dystrophy AD/AR Onset is perinatal Focal or diffused thickening of descement membrane and endothelial degeneration Blue-gray with ground glass appearance to total opacification

44. Case Presentation 34-year-old male patient C/O bilateral decreased visual acuity since 5 years Past history: Our patient had no history of infection, trauma, using fluoroquinolones or a systemic disorder Birth and Developmental history: Normal development Family history: There was no family history.

45. Ocular Examination Visual Acuity : His visual acuity was CF 1 m in both eyes. Slit lamp examination: It revealed arcus or disk-like lesion and polychromatic crystalline depositions in both eyes in the sub epithelium and the anterior 1/3 of the stroma . The beginning of arcus lipoides was seen. The corneal epithelium was intact, fluorescein staining showed no lesion. Corneal sensitivity was mildly reduced in both eyes. Fundus examination was within normal limits.

46. Anterior segments fotos of the patient were taken (Figure 1: A- B).

47. Resembling Photo

48. Continue; Dynamic corneal response analysis (Oculus Corvis ST) was also performed to the patient. Central corneal thickness results were 507 µm in the right eye and 503 µm in the left eye. (Figure 2: A-B) Average corneal densitometry levels were 45.4 and 37.4 in right and left eye respectively (Figure 2: A- B). K max levels were and 54.9 D in right eye and 52.0 D in left eye measured with a Penta Cam – Oculus Germany (Figure3: A-B).

49. Figure 2- 3

50. Continue.. IOP Examination: Intraocular pressure values were 16.9 mmHg and 16.2 mmHg in right and left eye respectively Systemic Examination: No any abnormality Investigations: CBC, ESR, RBS, LFT, RFT- Normal but in lipid profile we found hypertriglyceridemia

51. Continue; A lipid panel was ordered and showed total cholesterol of 159 mg/dL (normal <200 mg/dL) and triglycerides of 262 mg/ dL (normal <150 mg/dL). The level of high density lipoprotein was 28 mg/ dL (normal 35- 55 mg/ dL) and low-density lipoprotein was 100 mg/ dL (normal <100 mg/ dL).

52. Diagnosis A diagnosis of Schnyder corneal dystrophy was thought based on clinical presentation and coexistence dyslipidemia of the patient.

53. Microscopic Examination Confocal microscopy to support our diagnosis and genetic testing for the UBIAD1 mutation

54. Treatment The patient was made aware that a corneal transplant might be required in the upcoming period to improve best-corrected visual acuity and overall quality of vision. Advised to use of lubrication drops as needed for comfort. Therapeutic and cholesterol lowering medication. Surgery for the cornea a keratoplasty DALK , PKP. Phototherapeutic keratectomy to lamellar or penetrating keratoplasty

55. Thanku