grandular type 2 stromal dystrophy

1. CASE PRESENTATION:
Corneal Dystrophy
Dr. Nilay Nitin Patel
Dr. Nita Shanbhag
DY Patil University, School of Medicine
Nerul, Navi Mumbai

2. Case History
• A 45 year old woman came with complaints of Gradual Progressive
Diminision of Vision in both eyes since 10 years of age
• Patient was apparently alright before that with good visual acuity
• No H/o Photophobia, Coloured halos,Watering and Pain
• No H/oTrauma,Viral infection
• No relevant family history
• No H/o of any systemic illness
• No known drug allergy

4. Ocular Examination
RIGHT EYE LEFT EYE
V/A 6/36 6/60
Pin holeVn 6/36 NI 6/60 NI
Retinoscopy +1.25 / +1.25 +1.0 / +1.0
IOP Digitally normal Digitally normal
Lids / lashes Normal Normal
Sclera / Conjunctiva Not congested Not congested
Cornea Multiple white dots about 0.5mm in diameter eroding out of the epithelium,
studding the stroma not involving the endothelium, spread over 8mm area,
with interdigitating network of filaments
Anterior chamber Normal in depth. No KPs, flares and cells.
Iris / Pupil CPN / CCRTL CPN / CCRTL
Lens Clear Clear
EOM Free and full Free and full
Dil. Fundus
Examination
Media: Clear
Disc:0.3 cup with normal NRR
Vessels: WNL; Macula: Normal FR: +
Media: Clear
Disc:0.3 cup with normal NRR
Vessels: WNL; Macula: Normal FR: +
Gonioscopy Open angles Open angles

6. RE LE

7. Characteristics Lattice Granular Macular
Genetics Autosomal Dominant Autosomal Dominant Autosomal Recessive
Onset 1st decade of life Early Adolescence 1st decade
Vision
Early reduction with obvious
clouding
Good until middle age
Reduced by 30-40 years, FC
by 50 years
Symptoms Severe recurrent erosions
Minimal inflammation and
irritation
Mild recurrent erosions
Opacites
Grayish ‘ pipe cleaner’ linear,
branching, threads; dots and
flakes; distinct borders
Grayish opaque granules;
bread crumbs; sharp borders
Grayish opaque spots;
indisctinct borders
Intervening Stroma Relatively clear Clear Diffusely clear
Distribution of
Opacities
Entire cornea with dots;
linear opacities central;
periphery usually clear;
Progress to central disciform
by middle age
Axial only; periphery clear
Entire cornea; but most
dense centrally
Histopathology
Large hyaline lesions with
scattered fibrillar material;
also subepithelial
Discrete, hyaline, granulated
Diffuse, granular,
nonhyaline,
Asso with keratocytes
Defect
Structural protein: primary
amyloidosis of cornea
Structural proteins: hyaline
degeneration of collagen
Metabolic: defective acid
mucopolysaccharide
metabolism
Corneal Stromal Dystrophy

8. Types of Lattice Corneal dystrophy
Characteristics Type I ( Biber-Haab-Dimme) Type II ( Meretoja Syndrome ) Type III
Usual age of onset <10 years >20 years >40 years
Visual acuity Impaired by age 40-60 Good until age 65 Impaired after 60
Systemic amyloidosis No Yes No
Faces Normal
Masklike facial expression,
blepharochalasis, floppy
ears, protruding lips
Normal
Nervous system Normal
Cranial and peripheral
nerve palsies
Normal
Skin Normal
Dry, itchy, and lax with
amyloid deposits
Normal
Cornea
Delicate interdigitating
network of filaments; no
lines present at early stages
Thick and radially oriented
lines
Extending to periphery
Thick lines
Episodic corneal erosions Yes Yes No

9. Granular DystrophyType 2 (Avellino /
Granular- Lattice Dystrophy)
• Gen: Autosomal Dominant related to theTGFBI gene, locus 5q31
• Recurrent erosions are more common
• Biomicroscopically, granular deposits are more superficial; as the disease
progresses, a snowflake appearance deeper in the stroma can be noted.
• The linear refractile deposits tend to be deeper than the granular deposits, but
with progression these lines coalesce with the round opacities.
• Pathology: mixed deposits of hyaline and amyloid; hyaline stains with Masson
Trichrome and amyloid stains with Congo Red
Stains Lattice Granular Macular Avellino
PAS (Periodic acid schiff) + + +
Trichrome Masson + + +
Congo red (Under polarization) + +
Alcian blue +
Stains used for Histopathological diagnosis of the Stromal Corneal Dystrophy

10. Investigations
Ocular
• IOP
• Sac syringing
• CornealTopography
• Anterior Segment OCT
• UBM
• Pachymetry
• Posterior segment I/O to r/o any
retinal Pathology
Systemic
• Diabetes
• Hypertension
• Systemic Amyloidosis
• Peripheral and cranial nerve
involvement

13. Initial medical management
• Lubricating drops, or autologous serum therapy
• Punctal plugs
• Bandage Contact Lenses +/- antibiotics for recurrent
erosions

14. Discussion
If Epithelium & Stroma involved
• Common
• DALK
– Manual
– Excimer donor lenticule giving
better approximation with lesser
astigmatism
– Femto donor Lenticule with
more optimal results
If Endothelium involved
• Very Rarely
• PKP is the only Mx option
– With good visual prognosis
– Recurrences of primary
dystrophy are known in the graft
In this case PKP is preferred over DALK because dissection of
the stroma would be difficult as the stromal involvement is
extensive.

15. Differential Diagnosis
• Lattice Corneal Dystrophy -Type I, III, IIIa, IV: these
dystrophies typically present with central anterior stromal
corneal lattice lines at variable stages in life, recurrent
corneal erosions, and no systemic features
• Granular Corneal Dystrophy – Avellino, Reis Bückler
• Macular Corneal Dystrophy –Type I,Type Ia,Type II
• Schnyder Corneal Crystalline Dystrophy (SCCD)
IMPRESSION: Avellino Corneal Dystrophy

16. THANKYOU

17. Dystrophy vs Degeneration
Dystrophies:
• Genetic (usually Aut Dom) with onset in
childhood/early adulthood
• Not associated with systemic disease
• Bilateral
• Centrally located within the cornea
• Typically involve only one layer of the
cornea
Degenerations:
• Progressive (onset typically after age 40)
• Usually unrelated to family history or
genetic predisposition
• Commonly associated with systemic
disease (rheumatologic, infectious)
• Usually unilateral, asymmetric if bilateral,
and peripherally located on the cornea
• Can involve one or multiple layers of the
cornea
• Often associated with neovascularization

18. TGFβ1 and Corneal Dystrophies
• Transforming Growth Factor Beta Induced Protein (gene product of
TGFβ1) is very abundant in cornea
- >30 mutations inTGFβ1 gene that result in corneal dystrophies
- 68 kDa protein known as keratoepithelin
• It is secreted by corneal epithelial cells and is found in normal
stroma bound to typeVI collagen
- Mutations in theTGFβ1 gene protein aggregation in the
cornea 2/2 protein misfolding
• TGFβ1 induced protein accumulates as insoluble products in various
forms.
The severity, clinicopathologic variations , age of onset, and location
of deposits all depend in the type of amino acid alterations in the
protein