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![MEESMAN CORNEAL DYSTROPHY
Inheritance: Autosomal dominant
Onset,course,symptom:
• occurs in early childhood & is slowly progressive with variant stocker holt dystrophy with
mild visual reduction
• Patient complains glare & light sensitivity, recurrent painful epithelial erosions.
• Rarely blurred vision results from corneal irregularity & scarring.
• PATHOLOGY: It has been associated with genes KRT3 and KRT12 located on chromosome 12
and 17 respectively.[4]
SIGNS :
Multiple tiny epithelial vesicles which extend to the limbus & are most numerous in the inter
palpebral area with clear surrounding epithelium.
Whorled & wedge shaped epithelial patterns have seen.
Cornea; thickening & reduction in the corneal sensation may be seen.
The entire cornea demonstrate fine, grayish punctuate epithelial opacities that stain with
flurorescein & fine linear opacities that may appear in a whorl pattern .](https://image.slidesharecdn.com/cornealdystrophyanddegeneration-190731122409/85/Corneal-dystrophy-and-degeneration-16-320.jpg)
![• 2. Lattice corneal dystrophy , Gelsolin Type (LCD2)
Known as familial amyloidosis of Finnish (FAF)
• Inheritance : autosomal dominant
• PATHOLOGY:
type II or Finnish type amyloidosis: associated with manifestations of systemic
amyloidosis due to accumulation of gelsolin.[4]Associated conditions may include cutis
laxa[5] and ataxia.[6]
• Onset & course :
• Occurs in third or forth decade of life, Slowly progressive, majority of patients are good
health even in seventh decade of life
• Symptoms :
• Dry eye frequently, corneal erosion may occur in late life.
• Visual acuity is normal because of the dystrophy progress peripheral to central cornea.
• Signs : Corneal sensitivity is reduced or absent.](https://image.slidesharecdn.com/cornealdystrophyanddegeneration-190731122409/85/Corneal-dystrophy-and-degeneration-35-320.jpg)
![TREATMENT
• punctal plugs (both upper and lower)
• Keretoplasty is required at age of 30-40 years.
• Phototherapeutic keratectomy (PTK) using
[Excimer laser] can restore and preserve useful
visual function for a significant period of time in
patients with anterior corneal dystrophies.[3]](https://image.slidesharecdn.com/cornealdystrophyanddegeneration-190731122409/85/Corneal-dystrophy-and-degeneration-37-320.jpg)
![MEESMAN CORNEAL DYSTROPHY
Inheritance: Autosomal dominant
Onset,course,symptom:
• occurs in early childhood & is slowly progressive with variant stocker holt dystrophy with
mild visual reduction
• Patient complains glare & light sensitivity, recurrent painful epithelial erosions.
• Rarely blurred vision results from corneal irregularity & scarring.
• PATHOLOGY: It has been associated with genes KRT3 and KRT12 located on chromosome 12
and 17 respectively.[4]
SIGNS :
Multiple tiny epithelial vesicles which extend to the limbus & are most numerous in the inter
palpebral area with clear surrounding epithelium.
Whorled & wedge shaped epithelial patterns have seen.
Cornea; thickening & reduction in the corneal sensation may be seen.
The entire cornea demonstrate fine, grayish punctuate epithelial opacities that stain with
flurorescein & fine linear opacities that may appear in a whorl pattern .](https://image.slidesharecdn.com/cornealdystrophyanddegeneration-190731122409/75/Corneal-dystrophy-and-degeneration-16-2048.jpg)
![• 2. Lattice corneal dystrophy , Gelsolin Type (LCD2)
Known as familial amyloidosis of Finnish (FAF)
• Inheritance : autosomal dominant
• PATHOLOGY:
type II or Finnish type amyloidosis: associated with manifestations of systemic
amyloidosis due to accumulation of gelsolin.[4]Associated conditions may include cutis
laxa[5] and ataxia.[6]
• Onset & course :
• Occurs in third or forth decade of life, Slowly progressive, majority of patients are good
health even in seventh decade of life
• Symptoms :
• Dry eye frequently, corneal erosion may occur in late life.
• Visual acuity is normal because of the dystrophy progress peripheral to central cornea.
• Signs : Corneal sensitivity is reduced or absent.](https://image.slidesharecdn.com/cornealdystrophyanddegeneration-190731122409/75/Corneal-dystrophy-and-degeneration-35-2048.jpg)
![TREATMENT
• punctal plugs (both upper and lower)
• Keretoplasty is required at age of 30-40 years.
• Phototherapeutic keratectomy (PTK) using
[Excimer laser] can restore and preserve useful
visual function for a significant period of time in
patients with anterior corneal dystrophies.[3]](https://image.slidesharecdn.com/cornealdystrophyanddegeneration-190731122409/75/Corneal-dystrophy-and-degeneration-37-2048.jpg)
More Related Content
Similar to Corneal dystrophy and degeneration
Corneal dystrophy and degeneration
- 1. CORNEAL DYSTROPHY AND DEGENERATION DRNIRAV DADIA FELLOW NANDADEEP
- 2. CORNEAL ANATOMY • Tearfilm 7-11 um • Epithelium 50 um • Epithelial BM <128 nm • Bowman 8-14 um • Stroma 500 um • Descemet 5-10 um • Endothelium 5 um
- 4. DYSTROPHY Definition : • GreekDys – wrong; Trophe – nourishment • Bilateral • Symmetric • Inherited condition • Little or no relationship to environmental or systemic factors • Begin in early life but may not become clinically apparent until later • Slowly progressive • Absence of inflammation
- 5. SLIT-LAMP EVALUATION ofCD Precise rules: • Examination of both eyes • Examination with dilated pupils – Direct and Retro illumination • Topographical determination of lesion – Superficial – Stromal – Endothelial – Combination • Characteristic opacity pattern in direct illumination • Characteristic opacity units in direct and indirect illumination • Pseudoinflammatory signs
- 6. CLASSIFICATION OF CD Anatomicclassification: EPITHELIAL and its Basement Membrane DYSTROPHY BOWMANN’S DYSTROPHY STROMAL DYSTROPHY DESCEMET’S MEMBRANE and ENDOTHELIAL DYSTROPHY
- 7.
- 8. EPITHELIAL BASEMENT MEMBRANEDYSTROPHY INHERITANCE- NO Inheritance Onset,course,symptom: • Presents in adult life, rarely seen in children. • Asymptomatic or recurrent erosion with pain ,lacrimation & blurred vision. • Except for the bleb pattern, on-axis lesions may also cause blurred vision due to irregular astigmatism PATHOLOGY: point mutations in the TGFBI gene encoding keratoepithelin have been identified SIGNS- MAPS: irregular island of thickened, gray ,hazy epithelium with scalloped circumscribed borders, affecting the central or paracentral cornea. DOTS: irregular round ,oval or comma shaped, non staining, putty-gray opacities. BLEB PATTERN: sub epithelial pattern like pebbled glass best seen by retro illumination .. FINGERPRINT LINES: parallel ,curvilinear lines, usually paracentral,best seen in retro illumination, isolated or combined with maps.
- 10. TREATMENT • Débridement . •Superficial keratectomy - DALK • Lubricants, hypertonic saline • Bandage soft Contact Lens. • Anterior stromal reinforcement or puncture. • Phototherapeutic keratectomy (PTK)
- 11. EPITHELIAL RECURRENT EROSIONDYSTROPHY Inheritance: Autosomal Dominant Onset,course,symptom: - At 4-6 years of age some times as early as 8 months of age then decline in frequency in intensity & cease by 50 years. - precipitated by minimal trauma & are in the form of attack of redness,photophobia, ocular pain. SIGNS : CORNEAL EROSIONS are seen during 4-6 years of age sometimes as early as 8 months of age & generally decline in frequency & intensity & cease by 50 yrs. SUBEPITHELIAL HAZE OR BLEB: may be seen between attacks CENTARL SUBEPITHELIAL CORNEAL OPACITIES: may appear as early as 7 yrs of age.
- 13. TREATMENT • Artificial tears •Oral tetracycline antibiotics • Topical corticosteroid • phototherapeutic keratectomy.
- 14. SUBEPITHELIAL MUCINOUS CORNEALDYSTROPHY • Inheritance: Autosomal Dominant Onset,course,symptom: • Onset is in first decade of life & progressive loss of vision occurs in adolescence. It include painful episodes of recurrent corneal erosion which decrease during adolescence. PATHOLOGY: Anterior to Bowman layer, deposits of glycosaminoglycan were detected and identified as chondroitin-4-sulfate and dermatan sulfate SIGNS : It include bilateral sub epithelial opacities & has most dense centrally, involving the entire cornea.
- 16. MEESMAN CORNEAL DYSTROPHY Inheritance:Autosomal dominant Onset,course,symptom: • occurs in early childhood & is slowly progressive with variant stocker holt dystrophy with mild visual reduction • Patient complains glare & light sensitivity, recurrent painful epithelial erosions. • Rarely blurred vision results from corneal irregularity & scarring. • PATHOLOGY: It has been associated with genes KRT3 and KRT12 located on chromosome 12 and 17 respectively.[4] SIGNS : Multiple tiny epithelial vesicles which extend to the limbus & are most numerous in the inter palpebral area with clear surrounding epithelium. Whorled & wedge shaped epithelial patterns have seen. Cornea; thickening & reduction in the corneal sensation may be seen. The entire cornea demonstrate fine, grayish punctuate epithelial opacities that stain with flurorescein & fine linear opacities that may appear in a whorl pattern .
- 18. TREATMENT • Treatment isusually not needed unless a person is experiencing symptoms. • lubricating eye drops. • severe cases, therapeutic contact lenses or cycloplegic eye drops • Hypertonic saline may be given if symptoms get worse when a person wakes up. • Surgical procedures are sometimes tried when these treatments do not help, and may include epithelial debridement, or keratectomy. There is a high risk of recurrence with these procedures. • Researchers are also evaluating a form of gene therapy called RNA interference (RNAi) which is also called therapeutic siRNA.
- 19. LISCH EPITHELIAL CORNEALDYSTROPHY • Inheritance: X-linked chromosomal dominant Onset,course,symptom: Occurs in childhood with slow progression of opacities. Asymptomatic blurring of vision occurs if pupillary zone is involved. SIGNS : DIRECT ILLUMINATION: shows localised gray opacities in different pattern: whorl like radial, band shaped ,flame. INDIRECT ILLUMINATION: demonstrates multiple,densly crowded clear cyst with clear surrounding epithelium.
- 21. TREATMENT • Epithelial debridement(superficial keratectomy) • Typically recurs
- 22. Gelatinous Drop-like Dystrophy •Inheritance: Autosomal Recessive Onset,course,symptom: occurs in first decade of life & is progressive. Significant decrease in vision ,photophobia, irritation, redness, tearing. SIGNS : SUBEPITHELIAL LESIONS: appear initially may be similar to band shaped keratopathy or there may be groups of small multiple nodules, that is mulberry configuration is frequently seen.
- 24.
- 25. REIS-BUCKLERS CORNEAL DYTROPHIES • INHERITANCE:autosomal dominant ONSET,COURSE: • also known as dystrophy of bowman layer type 1. • occurs in childhood & cause slowly progressive deterioration of vision. SYMPTOMS: Vision is impaired from childhood. Erosions cause ocular discomfort and pain in first decade but may become less severe from the end of second decade. • SIGNS: include confluent irregular and coarse geographic like opacities with varying densities which develop at the level of Bowman layer & superficial stroma, initially separated from one another opacities may extend to the limbus and deeper stroma with time.
- 27. • Treatment mayinclude a complete or partial corneal transplant, or photorefractive keratectomy
- 28. THIEL-BEHNKE CORNEAL DYSTROPHY •INHERITANCE: autosomal dominant • ONSET,COURSE: • Is also known as dystrophy of Bowman layer type 2 • Occurs in childhood & slowly progressive deterioration of vision from increase corneal opacification. • SYMPTOMS: • erosion cause ocular discomfort & pain in the first & second decade. • Gradual visual impairment develops later. • SIGNS: HONEYCOMB SHAPED • include symmetrical sub epithelial reticular opacities with peripheral cornea typically uninvolved, which can progress to deep stromal layers & corneal periphery.
- 30. GRAYSON-WILBRANDT CORNEAL DYSTROPHY •INHERITANCE: autosomal dominant • ONSET,COURSE: occurs during first to second decade of life & condition is progressive. • SYMPTOMS: decreased to normal visual acuity. Erosion may cause ocular discomfort & pain. • SIGNS: • Bowman layer demonstrate variable pattern of opacification from which extend anteriorly into the epithelium. • The cornea between the deposits is clear refractile bodies are describe in corneal stroma.
- 32.
- 33. a) Lattice cornealdystrophy 1. Classical lattice corneal dystrophy Known as Biber-Haab-Dimmer dystrophy • Inheritance – autosomal dominant • PATHOLOGY: Lattice dystrophy gets its name from an accumulation of amyloid deposits, or abnormal protein fibers, throughout the middle and anterior stroma. It is caused by mutations in TGFBI gene encoding keratoepithelin • Onset,course,symptoms: • Appears at the age of 2 years & progressive, ocular discomfort ,pain occur sometimes as early as first decade of life. • Progressive clouding at central cornea is apparent by age of 20 years, visual acuity is impaired. Signs : • Branching spider-like amyloid deposits forming an irregular lattice work in the corneal stroma, sparing the periphery • The number of lattice lines may differ between the 2 eyes & dystrophy may be difficult to diagnose in some younger patients.
- 35. • 2. Latticecorneal dystrophy , Gelsolin Type (LCD2) Known as familial amyloidosis of Finnish (FAF) • Inheritance : autosomal dominant • PATHOLOGY: type II or Finnish type amyloidosis: associated with manifestations of systemic amyloidosis due to accumulation of gelsolin.[4]Associated conditions may include cutis laxa[5] and ataxia.[6] • Onset & course : • Occurs in third or forth decade of life, Slowly progressive, majority of patients are good health even in seventh decade of life • Symptoms : • Dry eye frequently, corneal erosion may occur in late life. • Visual acuity is normal because of the dystrophy progress peripheral to central cornea. • Signs : Corneal sensitivity is reduced or absent.
- 37. TREATMENT • punctal plugs(both upper and lower) • Keretoplasty is required at age of 30-40 years. • Phototherapeutic keratectomy (PTK) using [Excimer laser] can restore and preserve useful visual function for a significant period of time in patients with anterior corneal dystrophies.[3]
- 38. b) Granular dystrophy •1.Granular corneal dystrophy, type 1 (classic) (GCDI) Known as corneal dystrophy groenouw type 1 • • Inheritance : autosomal dominant • Onset & course: • Occurs in childhood as soon as 2 years of age, Condition progressive. • Symptoms : Glare & photophobia, pain,watering,visual acuity decrease with increase of age. • Signs: • Milky granular hyaline deposits in anterior stroma, opacification do not extend limbus
- 39. • . 2.Granular corneal dystrophy , Type 2 (Granular lattice) (GCD2) • Known as combined granular–lattice corneal • Inheritance : autosomal dominant • • Onset & course : Occurs in first decade, condition is progressive. • Symptoms : Vision decrease with age, pain, ocular discomfort. • Signs : Superficial stromal tiny whitish dots, rings shaped snowflake stromal opacities appearing between superficial stroma & mid stroma & the next lesion, translucent flattened breadcrumb opacities are seen in the final stages.
- 41. • 2. Macularcorneal dystrophy (MCD) Known as Fehr spotted dystrophy Inheritance: autosomal dominant Onset & course : occurs in childhood & slowly progressive. Symptoms : Photophobia & pain, visual impairment, occurs between 10 & 30 years of age. Signs : corneal sensitivity reduced,ireggular whitish opacities develop letter. Stromal opacities in the central cornea in Macular Corneal Dystrophy.
- 43. 3. Schnyder cornealdystrophy (SCD) • Known as hereditary crystalline stromal dystrophy of schnyder. Inheritance : autosomal dominant Onset & course : Appear at birth time or first decade of life, slowly progressive & usually asymptomatic. PATHOLOGY: Cells in the cornea accumulate cholesterol and phosopholipid deposits leading to the opacity Symptoms : visual acuity decreases with age, scotopic vision is good but photopic vision is decreased. Signs : corneal sensation decrease with age. A. Early opacity. B. Early opacity with crystals. C. Central ring shaped opacity
- 45. • 4.Congenital stromalcorneal dystrophy (CSCD) Known as congenital hereditary stromal dystrophy Inheritance : autosomal dominant Onset & Course : occurs congenitally & non progressive or slowly progressive. Sign & symptoms : lesions are diffused, bilateral, corneal clouding with flake-like, whitish stromal opacities throughout the stroma, causing moderate to severe visual loss. 5. Flack corneal dystrophy (FCD) Known as francois-neetens specked corneal dystrophy Inheritance : autosomal dominant Onset & course : occurs congenitally & is non progressive. Signs & symptoms : asymptomatic condition, dandruff like opacities or some times ring shaped opacities .
- 46. • 6.Posterior amorphouscorneal dystrophy (PACD) Known as amorphous stromal dystrophy Inheritance : autosomal dominant Onset & course : occurs in first decade of life, congenital, non or slowly progressive. Signs & symptoms : gray white sheet-like opacities, mild decrease in visual acuity. 7. Central cloudy dystrophy of Francois (CCDF) Inheritance : unknown Onset & course : occurs in first decade, non-progressive. Sign & symptoms : mostly asymptomatic, rounded stromal opacities that interiorly & peripherally & are surrounded by clear tissue.
- 47. • 8.Pre-descemet cornealdystrophy Inheritance : unknown Onsets & course : occurs after 30 years of age ,non-progressive. Signs & symptoms: usually asymptomatic ,gray opacities
- 48.
- 49. FUCHS ENDOTHELIAL CORNEAL DYSTROPHY •Inheritance: autosomal dominant or sporadic in nature • Onset & course: Slowly progressive bilateral affecting females more than males usually 5th & 6th decade of life open angle glaucoma is common association. • • Clinical features: • Stromal oedema, pain, disc comfortness,blurring of vision, decrease in visual acuity, irritation.
- 51. TREATMENT • Topical hypertonicsaline, • Therapeutic soft contact lenses. DSAEK • corneal transplantation. DMEK Artificial corneas (keratoprosthesis) Genetic modification
- 52. • Surgery wherethe central diseased endothelium is stripped off but not replaced with donor tissue, with subsequent Rho- Associated Kinase (ROCK) inhibition of endothelial cell division may offer a viable medical treatment.
- 53. POSTERIOR POLYMORPHOU S CORNEALDYSTROPHY(PP CD) • Inheritance: autosomal dominant • Onset & course: Occurs in early childhood slowly progressive . • PATHOLOGY : • Characterised by changes in Descemet's membrane and endothelial layer. • PPCD type 2 is linked to the mutations in COL8A2 • Sign & symptoms : • Deep corneal lesions of various shapes like nodular, vesicular, blister like lesion. • Varying gray tissue at the level of descemet membrane.
- 55. CONGENITAL HEREDITARY ENDOTHELIAL DYTROPHY1 • Inheritance: autosomal dominant • Onset & course: Occurs in 1st or 2nd yr of life. Occasionally congenital progression of corneal clouding occurs over 1 to 10 years. • Sign & symptoms : • Endothelial changes in the form of moon crater like changes. • Corneal clouding ranging from diffuse haze to ground glass, milky appearance with occasional focal gray sports causing blurred vision, photophobia, watering. • Thickening of cornea (2-3 times thickness).IOP increased rarely.
- 56. CONGENITAL HEREDITARY ENDOTHELIAL DYSTROPHY2 • Inheritance: autosomal recessive • Onset & course: • Occurs congenitally & is relatively stable condition • Sign & symptoms : Condition is more common & severe than (CHED 1), Nystagmus present.
- 58. X-LINKED ENDOTHELIAL CORNEAL DYSTROPHY •Inheritance: x- chromosomal dominant • Onset & course: • Occurs congenitally progressive condition in males & non progressive condition in females. • Sign & symptoms : • male patients have blurring of vision associated with corneal clouding since birth, milky appearance ,nystagmus. • Female patients are asymptomatic, moon crater like change in both.
- 60.
- 61. • Definition: Cornealdegeneration refers to the conditions in which normal cells undergo some degenerative changes under the influence of age or some pathological condition.
- 62. • As being: •Non - Hereditary and Non - Familial • Usually Unilateral • Mostly Peripheral • More frequently seen • Vascularity and Inflammation is seen.
- 63.
- 64. Depending upon Location I.Axial Corneal Degenerations a) Fatty Degenerations b) Hyaline Degenerations c) Amyloidosis d) Calcific Degenerations (Band Keratopathy) e) Salzmann’s Nodular Degeneration
- 65. II. Peripheral Degenerations a)Arcus Senilis b) Vogt’s White Limbal Girdle c) Hassall – Henle Bodies d) Terriens’s Marginal Degeneration f) Pellucid Marginal Degeneration g) Furrow Degeneration (Senile Marginal Degeneration)
- 66. Depending upon Etiology I.AgeRelated Degenerations a) Arcus Senilis b) Vogts White Limbal Girdle c) Hassal - Henle Bodies d) Mosaic Degenerations
- 67. II. Pathological Degenerations: a)Fatty Degeneration b) Amyloidosis c) Calcific Degenerations d) Salzmann’s Nodular Degeneration e) Terrien’s Marginal Degeneration f) Pellucid Marginal Degeneration g) Furrow Degenerations h) Spheroidal Degeneration
- 68. ARCUS SENILIS • Itis the annular lipid infiltrations of the corneal periphery seen in the elderly. • Age – related degeneration occurring bilaterally in 60% of people aged 40 to 60 years. • And almost all individuals aged over 80 years.
- 69. • Commences asa crescentric grey or white arc in the superior and inferior quadrant and progresses to form a ring around the cornea, • 1mm wide ring • Lucid interval of Vogt’s – the clear zone which separates the ring of opacity from the limbus. • Peripheral border is sharp and inner border is diffuse. • Rarely double ring of Arcus is seen.
- 71. • It isnot of importance, as it does not decrease vision or the vitality of the cornea. • Unrelated to metabolic conditions such as hypercholesterolemia.
- 72. ARCUS JUVENILIS • Similarto Arcus Senilis but occurs in individuals aged less than 40 years. • Rare condition • Associated with Hypercholesterolemia • Diagnostic feature: Presence of a line of clear cornea between opacity and limbus.
- 73. VOGT’S WHITE LIMBALGIRDLE • Age related which appears as a bilateral chalky white opacities in the inter - palpebral area both nasally and temporally. • Opacity in the Bowman's Membrane.
- 75. Hassal - HenleBodies • Drop shaped excrescences of hyaline material projecting into the anterior chamber around the corneal periphery • Arise from Descemet’s membrane • Commonest senile change. • In pathological changes, they become larger and invade the central area and the conditions is called ‘Corneal Guttata’
- 77.