Miscellaneous Keratopathies

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Thygeson’s superficial punctate keratopathy

Rare, bilateral, idiopathic (viral?)
Associated with HLA-DR3
Onset in young adults
Clinical features
- Recurrent FB sensation
- Photophobia
- Epiphora
- Coarse, stellate grey-white epithelial opacities which appear elevated but are non-staining
- White eye
Treatment
- Topical steroids: effective but may increase the rate of recurrence
- Topical cyclosporine
- Therapeutic CL

Interstitial keratitis

Stromal inflammation without primary epithelial/endothelial involvement
Infective
- Syphilis: congenital or acquired
- TB
- Leprosy
- Herpetic
- Onchocerciasis
- Lyme disease
Non-infective
- Sarcoidosis
- Cogan’s syndrome

Megalocornea

Rare inherited condition
Simple megalocornea (no structural abnormalities) is autosomal dominant
Anterior megalocornea (strucutral abnormalities) is X-linked recessive, therefore seen mostly in men
- Carrier mothers have slightly enlarged corneas
Corneal diameter is greater than 13mm after the age of 2 years (but otherwise histologically normal)
Not progressive
Normal IOP (cp. Buphthalmos and congenital glaucoma)
Associated with
- Downs
- Marfans
- Alports
- Aperts (craniosynostosis)
- Goldenhar’s
Associated features
- Miosis
- Cataract
- Iris translucency/hypoplasia
- Ectopia lentils
- Ectopic pupil
- Goniodysgenesis: the anterior chamber angle may be visible without gonioscopy

Microcornea

Cornea less than 10mm
Autosomal dominant inheritance
Associated with angle closure glaucoma, open angle glaucoma, hyperopia
Systemic associations
- Dwarfism, achondroplasia
- Myotonic dystrophy
- Foetal alcohol syndrome

Vortex keratopathy

Whorl-like deposition of material in the epithelium
Caused by
- Fabry’s disease
- Amiodarone
- Chlorpromazine
- Chloroquine
- Indomethacin
- Meperidine
- Tamoxifen

Peters anomaly

Sporadic
Bilateral in 2/3rds
Absent posterior corneal tissue and leukoma
- +/- iris adhesions to leukoma (Peters type 1, PAX6, FOXC1)
- +/- lens-corneal adhesions (Peters type 2, FOXE3): due to failure of the lens vesicle to separate from surface ectoderm
Corneal opacification leads to amblyopia
Peter’s plus syndrome:
- Short stature
- Developmental delay
- Dysmorphic face
- Cardiac, GU and CNS malformation
Associated with
- Glaucoma
- Corectopia
- Iris hypoplasia
- Cataract
- ICE
- Aniridia
- Iris coloboma
- Persistent fetal vasculature
- Microcornea

Axenfeld Reiger syndrome

Abnormal migration of neural crest cells
Leads to glaucoma in 50%
Autosomal dominant, PITX2 and FOXC1 gene
Comprises
- Posterior embryotoxon
- Corectopia
- Iris atrophy (Rieger’s anomaly)
- Iridocorneal adhesions
- Ectropion uveae
Systemic features
- Maxillary hypoplasia (hypo/micro-dontia)
- Redundant periumbilical skin
- Hypospadias

Superior limbic keratoconjunctivitis

Thought to be due to mechanical trauma of the upper eyelid on the superior limbic area
Adult women
Asymmetrically bilateral
Features
- Papillary reaction on palpebral conjunctiva
- Hypertrophy of superior conj
- PEEs
- Fine superior corneal pannus
Associated with thyroid abnormalities
Management: aggressive lubrication, resection/cautery of conj, soft CLs, topical cyclosporin

Ocular cicatricial pemphigoid

Chronic, bilateral, disease of mucosal surfaces (including extraocular tissues)
Elderly patients
Clinical features
- Chronic conjunctivitis
- Subconjunctival fibrosis
- Symblepharon
- Forniceal shortening
- Ankyloblepharon
- Conjunctival keratinization
- Corneal scarring and neovascularization
Histology
- Decreased conjunctival goblet cells
- Conjunctival scrapings: lymphocytes, plasma cells, eosinophils
- IgA at the level of the basement membrane on immunofluorescence
Differential includes: drug-related eg antivirals, miotics, epinephrine and timolol, chemical burns, radiation, ocular rosacea and SJS
Management
- Oral dapsone
- Systemic prednisolone
- Cyclophosphamide
- Mycophenolate

Deposition keratopathies

Wilson’s disease: copper deposition (reduced serum ceruloplasmin)
- Autosomal recessive
- Kayser-Fleischer ring: brownish discolouration of peripheral Descemet’s (may disappear with treatment: systemic penicillamine)
- Sunflower cataract: copper deposition in the anterior capsule in a petaloid configuration
- Systemic features
Vortex keratopathy (corneal verticillata): epithelial opacities in a whorl-pattern
- Fabry’s disease (a sphingolipidoses)
- Amiodarone
- Chloroquine
- Indometacin
- Tamoxifen
- Chlorpromazine
- Atovaquone
Crystalline keratopathies
- Infectious crystalline keratopathy: bacterial colonisation of corneal graft
  - Typically following a PK in patients on topical corticosteroids long term
  - Grey-white branching opacities with crystalline appearance in mid-stroma
  - Quiet eye (ie. absent inflammation)
  - Bacteria probably enter via suture track
  - Most commonly due to streptococcus viridans (alpha-haemolytic strep). Also strep pneumoniae, haemophilus, mycobacterium species
  - Management is topical antibiotics
- Mineral deposits
  - Gold
  - Calcium: band keratopathy
- Immunoglobulin (in multiple myeloma, Waldenstrom’s macroglobulinaemia, lymphoma)
- Urate: gout
- Cysteine (cystinosis): autosomal recessive. Infantile, adolescent and adult forms. Crystals are deposited in the anterior stroma. Associated renal failure (nephrotic), and patchy depigmentation of the RPE
- Lipid deposit: Schnyder’s, lipid keratopathy
- Medication
  - Ciprofloxacin
  - Others as above for vortex keratopathy
Mucopolysaccharidosis keratopathy
- Hurler’s syndrome (MPS 1)

Fabry’s disease

Sphingolipidoses: inherited in X-linked pattern
- Defective alpha galatosidase A
Corneal verticillata
Peripheral neuropathy
Early angiokeratomas: a painful rash from knees to umbilicus
Later in life (30s):
- Renal failure
- Cardiac complications

Tyrosinaemia

Autosomal recessive defect in tyrosine aminotransferase. Associated intellectual disability
High serum (and urine) tyrosine with normal serum phenylalanine
Children present with recurrent pseudodendrites (may be misdiagnosed with HSV keratitis)
Management: dietary restriction of tyrosine and phenylalanine

Tay-Sach’s

Defect in hexosaminidase A which leads to accumulation of ganglioside GM2. this is deposited around the body
Features
- Seizures
- Learning disability
- Poor swallow
- Reduced vision: cherry-red spot due to accumulation of abnormal protein in the ganglion cells around the fovea

Cogan’s syndrome

Autoimmune disease
- Hearing loss
- Vertigo
- Stromal keratitis
Young adults with a URTI prodrome
Associated with polyarteritis nodosa
Management: topical and oral steroids

Arcus senilis

Almost universal bilaterally by age 80
If unilateral (rare), may be associated with hypotony and/or carotid artery disease (consider carotid doppler)
In a patient under 40, might indicate familial hyperlipidaemia

Band keratopathy

Precipitation of calcium in the epithelial basement membrane, Bowman’s and anterior stroma
- May also be causes by urate deposition such as in gout. Corneal deposits are more brown in appearance
Histopathology
- Basophilic material (ie. calcium) accumulating at Bowman’s layer
- Highlighted with stains:
  - Von Kossa: calcium appears black
  - Alizarin red: calcium appears red
  - Haematoxylin and eosin (H&E): stains calcium bluish/dark purple
Causes
- Idiopathic/congenital including Norrie’s disease
- Chronic inflammation eg uveitis, longstanding RD, graft rejection, phthisis, exposure keratopathy
- Hypercalcaemia: eg hyperparathyroidism, sarcoidosis, Paget’s disease, metastatic cancer to the bone
- Elevated serum phosphorus eg in renal failure
- Chemical exposure
- Silicone oil in the aphakic eye
- Ichthyosis
Management
- Conservative
  - Lubrication
  - Bandage contact lens
  - Treatment of systemic conditions with elevated calcium
- Superficial keratectomy +/- EDTA chelation +/- diamond-burr polishing

Bullous keratopathy

Causes
- Pseudophakic
- Fuchs
- End-stage glaucoma
- Longstanding inflammation
- Chemical burns
Management
- Conservative:
  - Lubricants
  - Hypertonic saline
  - IOP-lowering
  - Therapeutic CL
  - Hair-dryer
- Surgical
  - DSAEK if good visual potential
  - Palliative procedures if poor visual potential and painful: tarsorrhaphy, Gunderson flap, enucleation

Labrador keratopathy aka spheroidal degeneration

Bilateral
Affects the interpalpebral fissure
Elastotic degeneration associated with UV exposure
Managed with lubrication (does not generally affect vision)

Salzmann nodular degeneration

Hyaline material deposits in Bowman’s layer
Nodules with a translucent appearance
Thought to be due to chronic irritation eg. contact lens use

Chemical injury

Acute issues
- Abrasion
- Perforation
- Infection
- Glaucoma: uveitic, trabeculitis, lens-induced, PAS, steroid response
Chronic issues
- Trichiasis, distichiasis
- Cicatricial entropion/ectropion
- Cicatricial conjunctivitis, dry eyes, symblepharon
- Persistent epithelial defect
- Limbal stem cell failure
- Stromal scar
- Glaucoma
- Iritis
- Cataract
Roper-Hall classification of injury
- Grade 1: clear cornea, no limbal ischaemia. Excellent prognosis
- Grade 2: hazy cornea, <⅓ limbal ischaemia. Good prognosis
- Grade 3: opaque cornea, ⅓ to ½ limbal ischaemia. Fair prognosis
- Grade 4: opaque cornea, >½ limbal ischaemia. Poor prognosis
Dua’s grading
- Assesses clock hours of limbal involvement in ‘3s’ and percentage of conjunctival involvement

Hot Topic

Grading of chemical injuries is a hot topic in exams!

Management
- Irrigation
  - Remove particulate matter (sweep cotton bud into fornices)
  - Debride devitalised tissue
- Antibiotics to prevent secondary infection
- Steroids
- Promote surface healing: lubrication, tetracyclines (MMP inhibitor to prevent collagen breakdown), vitamin C (cofactor in collagen synthesis). Topical vitamin C has high tissue penetration.
  - BCL
  - Lid closure
- Analgesia and cycloplegics
- Autologous serum drops
- Debride conjunctival epithelium from cornea if conjunctivalisation occurring
  - However if no corneal epithelium develops, it should be allowed to conjunctivalise to prevent stromal melt and can be addressed surgically later.
- Conformer to prevent forniceal contracture
- Limbal stem cell deficiency: amniotic membrane transplant, limbal stem cell transplant/autograft
- Scars: lamellar or penetrating keratoplasty
- Management of complications eg. glaucoma