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![ Usually occurs in 1st decade of life.
Genetic locus is 1p32 & gene involved is tumour
associated calcium signal transducer-2 [TACSTD2].
Autosomal recessive inheritance.
Symptoms: diminished vision, photophobia, irritation,
redness and tearing.
Sign: sub epithelial lesion similar to band shaped
keratopathy or group of multiple nodule in the form of
mulberry configuration.
Superficial vascularisation is frequently seen.
Stromal opacification or larger nodular lesion(
kumquat like lesion) may appear later in life.](https://image.slidesharecdn.com/cornealdystrophy-230930003039-f0c7fec7/75/corneal-dystrophy-pptx-13-2048.jpg)
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corneal dystrophy.pptx
- 1.
- 2. The worddystrophy is derived from the Greek (dys = wrong, difficult; trophe = nourishment) and was introduced into the medical literature by Wilhelm Erb in 1884, in describing a disease of the musculature. Bucklers, whose name was later attached to Reis–Bucklers corneal dystrophy (RBCD), published the first classification of the corneal dystrophies.
- 3. It isa group of progressive usually bilateral mostly genetically determined ,non inflammatory opacifying disorders. Typically abnormal substance accumulates in cornea . Usually autosomal dominant but some are recessive. Not associated with systemic illness
- 4. Characterstics DYSTROPHY DEGENERATION DefinitionAbnormal substance accumulates in the cornea. Isolated from the cornea Secondary deterioration or deposition in the cornea Corneal Location Central Peripheral Laterality Bilateral Often Unilateral Symmetry Symmetric Asymmetric Vascularization None Common Family History Common Uncommon Age of onset 1st or 2nd decade 4th decade or later
- 5. Category 1:A well-defined corneal dystrophy in which the gene has been mapped and identified and specific mutations are known. Category 2: A well-defined corneal dystrophy that has been mapped to 1 or more specific chromosomal loci, but the gene(s) remains to be identified.
- 6. Category 3:A well defined corneal dystrophy in which the disorder has not yet been mapped to a chromosomal locus. Category 4: This category is reserved for a suspected new, or previously documented, corneal dystrophy, although the evidence for it, being a distinct entity, is not yet convincing
- 7. 7 1.Epithelial dystrophy 2.Bowman`s membrane dystrophy 3.Stromal dystrophy 4.Descemet membrane dystrophy 5.Endothelial dystrophy
- 8.
- 9. Lisch Meesman Cogan (epithelial BM dys) Type AD,X-linked (xp22.3) AD, Mutation inkeratin gene. Sporadic,AD Inheritance Ocular irritation Ocular irritation Recurrent corneal erosion in 10% Symptom Whorled configuration, micro cyst. Myriad cyst,thin cornea,reduce sensation Dot-like,map- like,microcyst,finger print. Bleb like subepith. pebbled glass pattern Sign ThickBM. ThickBM. ThickBM,protein dep.,absent hemidesmosomes Histology Lubricant Lubricant Lubricant Treatmen t
- 10. BEST VISUALISED ONRETROILLUMINATION AND SCLERAL SCATTER
- 11. •Multiple tiny epithelialcysts •Whorled and wedge shaped epithelial patterns. •Maximum centrally •Clear in retro illumination •Grey in direct illumination
- 12. Direct illumination shows-greyopacities in different patterns: Whorled configuration, radial band shaped, flame or feathery shaped and club shaped Retro illumination shows- multiple densely crowded microcyst with clear surrounding epithelium.
- 13. Usually occursin 1st decade of life. Genetic locus is 1p32 & gene involved is tumour associated calcium signal transducer-2 [TACSTD2]. Autosomal recessive inheritance. Symptoms: diminished vision, photophobia, irritation, redness and tearing. Sign: sub epithelial lesion similar to band shaped keratopathy or group of multiple nodule in the form of mulberry configuration. Superficial vascularisation is frequently seen. Stromal opacification or larger nodular lesion( kumquat like lesion) may appear later in life.
- 14. Usually occursin first decades of life. Autosomal dominant inheritance. Symptoms are precipitated by minimal trauma in the form of redness, photophobia, epiphora and ocular pain. Sign: corneal erosions are seen during attack typically at 4-6year of age. Subepithelial haze or blebs may be seen between the attacks. Central subepithelial corneal opacities may be present.
- 15. Bowman layer or anteriorstromal dystrophies (REIS –BUCKLERS DYSTROPHY) CDB1 (THIEL-BEHNKE DYSTROPHY) CDB2
- 16. 16 CDB2(THEIL BEHNKE DYS)= honeycomb shapedCD CDB1(REIS BUKLERS DYS) GCD3 geographical corneal dystrophy Type AD(10q24, 5q31) 1 decade AD (5q31) 1 &2 decade Inheritance Recurrent corneal erosion. Recurrent corneal erosion, vision, Photophobia , irritation Symptoms Subepithelial opacities (honeycomb) configuration. Fine,round,polygonal subepithelial opacities. Signs B.L replaced by curly fibers. B.L & B.M replaced by fibrous tissue. Histology Not necessary Lubricant, E.L keratectomy Treatment
- 17. Also knownas corneal basement membrane dystrophy type1(CBD1) and variant of granular corneal dystrophy type3(GCD3) central corneal opacities develop in a fishnet, or ring-like pattern Mainly affect the central and mid peripheral cornea, sparing the peripheral cornea. Diffuse superficial stromal haze evolves with increased central corneal thickness irregular astigmatism and decreased corneal sensation Prominent corneal nerves are often present Lesions stain pink with Masson’s trichrome Electron Microscopy reveals presence of rod shaped bodies.
- 19. Features aregenerally less severe than reis bucklers. Histology: bowman layer curly fibres on electron microscopy.
- 21. Occurs during1st and 2nd decades of life. Autosomal dominant inheritance. Signs: bowman layer demonstrates variable patterns of opacification from diffuse mottling to diffuse gray white opacities. The cornea between the deposits is clear. Symptoms: decreased to normal visual acuity. Recurrent corneal erosion may cause ocular discomfort and pain.
- 22. Stromal Lattice I Lattice II LatticeIII Gelatinous CD Granular CDI Granular CDII Macular CD Francois CD
- 23. 23 Lattice III Lattice II LatticeI Type AD(5q31) late onset 70-90 years AD(9q34) 2nd decade AD(5q 31) 1st decade Inheritance Photophobia, decreased VA , Watering. Recurrent corneal erosion Recurrent corneal erosion Symptoms Thick rope-like band lattice. Radial periphery located short,fine lattice, ↓corn.sensation. Glassy dots, fine lattice, outward spread stromal haze,↓corn.sensat ion Signs Amyloid deposition Amyloid and hyaline deposition Amyloid deposition Histology Keratoplasty if it affect the vision. Keratoplasty if affect the vision. Keratoplasty if affect the vision. Treatment
- 28. AR inheritance.(1p32) Rare mainly affecting Japanese people so called Japanese type amyloid corneal dystrophy. Usually presented at 1st or 2nd decade with severe photophobia , watering and visual impairment.
- 29. Bio microscopical examinationshows: Grey subepithelial nodules which increase in size and confluence then giving rise to Mulburry-like appearance.
- 30. 30 Histologically thereis sub epithelial and anterior stromal deposition of amyloid. This condition should be treated with repeated superficial keratectomy as recurrence in graft is very high.
- 31. GCDI GCDII(Avellino) AD(5q31) AD(5q31) 1st decade 2nd decade Recurrent erosion. Rec. eros. Uncommon
- 32. 9/30/2023 GCDI( Granular CDtype 1):classic Centrally located corneal opacities (ring,snowflake,crubms,sugar granules)not reaching limbus. Overall appearance gives the shape of christmas tree. Corneal sensation decrease. VA impaired at advanced stage. GCDII(granular-lattice dys.) Centrally dens opacities (ring,disc,star,snowflake) like GCDI Overall pattern radially spread like Lattice dystrophy .
- 33. GCDI histologyshows amorphous hyaline deposits which stain bright red with Masson trichrome. GCDII histology shows both hyaline and amyloid in the stroma that stains with Masson trichrome and Congo red.
- 34. GCDI hasto be treated by keratoplasty usually at 5th decade when there is visual impairment while GCDII most of the time does not require any treatment.
- 35. AR, geneticlocus16q22. It is least common type CD. systemic inborn error of keratan sulphate metabolism. only corneal manifestations. It has been divided into clinically indistinguishable types I, IA and II depending on the presence or absence of antigenic keratan sulphate in the serum and cornea; these have been shown to be due to mutations in the same carbohydrate sulfotransferase gene (CHST6).
- 36. Histology shows abnormallyclose packing of collagen in the corneal lamellae and abnormal aggregations of glycosaminoglycans which stain with Prussian blue and colloidal iron
- 37. 1st decade Biomicroscopyshows: :Anterior stromal haze, initially involving the central cornea. • Greyish-white, dense, focal, poorly delineated spots in the anterior stroma centrally and posterior stroma in the periphery. •Superficial deposits may produce an irregularity of the corneal surface, although recurrent erosions are unusual. • Increase in size and stromal haze . • Increasing opacification with eventual involvement of full- thickness stroma up to the limbus, associated with corneal thinning. Treated by keratoplasty but recurrence may occur.
- 38. 1. It hasAD Inheritance. 2. Polygonal, cloudy grey opacities separated by relatively clear spaces, in the posterior stroma, most prominent centrally, creating a leather-like appearance. 3.The signs are similar to posterior crocodile shagreen but it is differentiated by its central, posterior location and mode of inheritance. 4. Treatment is not required.
- 39. Autosomal dominantinheritance. Genetic locus is 1p36 & gene involved is UbiA Prenyltransferase domain containing I-UBIAD1. Sign: Round ring shaped central corneal opacities due to deposition of fine needle like cholesterol crystals. Decrease in corneal sensation with age. Symptoms: visual acuity decreases with age. Glare increases with age.
- 41.
- 42. Fuchs endothelialdystrophy)FED) is characterized by bilateral accelerated endothelial cell loss. more common in women(4:1) usually in 5th and 7th decades of life. associated with a increased prevalence of open-angle glaucoma. Inheritance may occasionally be AD although the majority are sporadic. Genetic locus is 13p. Onset of this slowly progressive disease is commonly in old age, although earlier onset can occur.
- 43. . clinical featurecan be divided into following four stages. 1. stage of corneal guttata: it is characterised by presence of Hassall-Henle type of excrescences in the central part of cornea. 2. stage of endothelial decompensation or oedematous stage: characterised by early stromal oedema and epithelial dystrophy. 3. stage of bullous keratopathy: marked epithelial oedema with formation of bullae. 4. stage of scarring: In this stage epithelial bullae are replaced by scar tissue. the condition may some times may be complicated by secondary infection or glaucoma.
- 44. •Cornea guttatarefers to irregular warts or ‘excrescences’ of Descemet membrane secreted by abnormal endothelial cells. • Specular reflection shows tiny dark spots caused by disruption of the regular endothelial mosaic • Progression occurs to a ‘beaten metal’ appearance which may be associated with melanin deposition.
- 45. Endothelial decompensation graduallyleads to central stromal oedema and blurred vision, worse in the morning and clearing later in the day. Epithelial oedema develops when stromal thickness has increased by about 30%. . Persistent epithelial oedema results in the formation of microcysts and bullae (bullous keratopathy) which causes pain and discomfort on rupture, thought to be due to exposure of naked nerve endings.
- 46. a Conservative optionsinclude topical sodium chloride 5% drops or ointment, reduction of intraocular pressure and using a hair dryer to speed corneal dehydration in the morning b Bandage contact lenses provide comfort by protecting exposed nerve endings and flattening bullae. c Penetrating or deep lamellar endothelial keratoplasty has a high success rate and should not be delayed. d Other options in eyes with poor visual potential include conjunctival flaps and amniotic membrane transplants.
- 47. Cataract surgerymay accelerate endothelial cell loss and result in decompensation. A ‘triple procedure’ (cataract surgery, lens implantation and keratoplasty) should be considered in eyes with corneal epithelial oedema or when preoperative pachymetry measurement is greater than 640 µm. If corneal thickness is less than 640 µm, a good visual outcome is to be expected.
- 48. Posterior polymorphouscorneal dystrophy) PPCD) is a rare, innocuous and asymptomatic condition in which corneal endothelial cells display characteristics similar to epithelium. There are three forms, PPCD1-3, each caused by mutations in different genes Autosomal dominant inheritance. The gene VSX1has been implicated in PPCD1. PPCD2 is caused by mutation in COL8A2 gene. PPCD3 is caused by mutation in ZEB1 gene.
- 49. Symptoms startat birth or soon thereafter, although it is most frequently identified by chance in later life. Signs consist of subtle vesicular endothelial lesions that may become confluent band-like lesions or diffuse opacities which may be asymmetrical. Ocular associations include iris abnormalities, glaucoma and Alport syndrome. Treatment is not required.
- 50. Congenital hereditary endothelialdystrophy )CHED) is a rare dystrophy in which there is focal or generalized absence of corneal endothelium. There are two main forms, CHED1 and CHED2, the latter being more severe .
- 51. CHED1: It isAD with the gene locus on 20p11.2-q11.2. CHED2: It is AR inheritance with the gene locus on 20p13, SLC4A11 gene. It starts perinatally. Microscopically there is bilateral, symmetrical, diffuse corneal oedema resulting in a blue-grey, ground-glass appearance to total opacification • Visual impairment is variable and visual acuity may surpass that expected from the corneal appearance.
- 52. Endothelial changesin form of moon crater like appearance and peau d orange texture. Corneal clouding ranging from diffuse haze to ground glass, milky appearance. Thickening of cornea 2-3 times of normal. Sub epithelial band keratopathy may be seen. IOP may be elevated rarely.
- 53. Treated bylamellar or penetrating keratoplasty which has a reasonable chance of success when performed early but is risky and technically more difficult than in adults. Undue delay in surgical intervention carries the risk of dense amblyopia. CHED can be differentiated carefully with other causes of neonatal corneal opacification such as congenital glaucoma, rubella , keratitis mucopolysaccharidoses, birth trauma and sclerocornea.
- 54. It occurscongenitally and is a progressive condition in males & non progressive in females. Genetic locus is Xq25. Inheritance is X-chromosomal dominant. Sign and symptoms: male patients have blurring of vision a/w corneal clouding. moon crater like endothelial changes. Subepithelial band shaped keratopathy. Nystagmus may be associated. Female patients are asymptomatic having only moon crater like endothelial changes.
- 55. KERATOCONUS It is acondition in which the cornea becomes conical. Etiology is supposed to be hereditary. Symptoms: diminished vision due to high astigmatism, photophobia, monocular diplopia. Signs: Munson's sign- cornea appear conical axially with the lower lid indented on looking down. Benedict Rizzuti sign- a flash light shown on one side get focussed on other side.
- 56. Corneal reflectionsof a grid or window is distorted. Keratometry shows irregular misaligned mires. Corneal topography can document the changes of curvature of cornea. The corneal nerves are prominent. The apex may shows hydrops & later causes opacity. Vertical stress lines (Vogt's band) are seen in deep stroma. Distant direct ophthalmoscopy shows ring shaped dark shadow between central and peripheral cornea. Treatment: hard contact lens or RGP. Thermo & penetrating keratoplasty can be done.
- 57. Keratoglobus Microcornea:AD inheritance, size<10mm Megalocornea: X-linked recessive, size> 13mm Sclerocornea: bilateral opacification and vascularisation of peripheral cornea.
- 58. SMOLIN ANDTHOFT TEXT BOOK OF CORNEA KANSKI TEXT BOOK OF CLINICAL OPHTHALMOLOGY NET
- 59.