Ch. 18 Congenital Corneal Opacities: Dx & Management Flashcards
Describe the STUMPED classification for congenital corneal opacities
laterality and course of sclerocornea?
It is bilateral, but usually asimetric.
It is non progresive.
Name the 4 types of sclerocornea according to Waring and Rodriguez
- Isolated peripheral sclerocornea
- [sclero]cornea plana
- Asociated with anterior chamber cleavage abnormalities
- Total Sclerocornea
What is the keratometry of a patient with scelrocornea plana?
<38 D.
Is glaucoma a frequent association to cornea plana?
NO
Although patients with this entity have shallow anterior chambers, glaucoma is not usually present.
Which type of sclerocornea is the most common?
Total Sclerocornea
Name the main 4 Dxdx of sclerocornea
Peter’s anomaly
Microcornea
Interstitial keratitis
Arcos Juvenilis
How is interstitial keratitis different from sclerocornea?
it is associated to a red, inflamed eye, and usually has later onset
how is peter’s anomaly clinically different from sclerocornea?
Peter’s anomaly is usually a central, focal opacification
while sclerocornea, even in the “total cornea” type, predominates in the periphery.
How is arcus juvenilis clinically different from sclerocornea?
Cornea is not vascularized
there is a clear band between the “arcus” and the limbus.
Associated to lipid abnormalities.
Inheritance pattern for congenital glaucoma
Sporadic
But may also be AR.
According to krachmer, the most important Dxdx in the congenital corneal clouding is ___________ because early treatment can preserve vision, while a delayed diagnosis will lead to irreversible visual loss.
Congenital Glaucoma.
Name the congenital glaucoma clinical triad
Photofobia
Epiphora
Blepharospasm
What is the phisiopathology of corneal clouding in congenital glaucoma?
At first, epithelial edema due to elevated IOP
Later, corneal hidrops episodes due to breaks in descemet membrane (following severe buphthalmos and DM thinning)
Is there a lateral predominance for Haab Striae in birth trauma.
Left eye predominance
Because neonates usually present in the left-occiput-anterior position.
What is the natural history for descemet breaks in birth trauma?
It evolves from corneal edema to a clear cornea but with marked astigmatism (4-9D) which requires promt ampliopia-preventing treatment.
Steep meridian paralelles the breaks (produces high WTR astigmatism)
Can descemet regenerate after breaks occurring from birth trauma?
NO
Endothelial cells fill the breaks and produce a basal membrane over the defect. The cornea clears, but the striae remain visible with elevated borders and beaten metal appearance occurring from guttae present whithin them.
Treatment of astigmatism after birth trauma?
Patching for anti-ambliopia treatment
Early fitting of RGP lenses is the method of choice to treat astigmatism, with very good results.
Which are the main 3 etiological factors causing congenital ulcers?
Herpes Simplex
Bacterial
Neurotrophic
What type of Herpes Virus is predominant in congenital Herpetic Keratopathy?
HSV-2 (80%)
HSV-1 (20%)
Treatment of choice for ocular neonatal HSV infection?
Intravenous Aciclovir
Describe the disease produced by congenital rubella infection?
microfthalmia
cataract
retinitis
iridocyclitis, corneal opacity, nistagmus, strabismus, nasolacrimal duct obstruction, viral dacryoadenitis.
How is the diagnosis of congenital rubella made?
Clinical History and confirmation by IgM taken from venous blood, or umbilical cord.
(IgM doesn’t cross the placenta)
Initial presentation of Gonorrheal Ophthalmia neonatorum
Severe lid edema in the first 1-3 days postpartum, with abundant watery or serosanguineous discharge
(Purulent stage starts at day 4-5)
Treatment for Gonorrheal ophthalmia neonatorum.
Systemic Penicillin G.
In Beta-Lactamase producing infection (resistant to Penicillin) cefotaxime is indicated.
Topical treatment for Pseudomononas in neonates.
Fortified Gentamicin or tobramycine.
Treatment of choice for congenital chlamydial Corneal infection.
Systemic Erythromycin.
Is syphilis a source of congenital corneal opacification?
No
Syphilis can produce corneal opacification, but occurs in the form of interstitial keratitis, in the 2nd-3rd decade of life.
Describe Riley-Day syndrome
eneralized dysfunction of the autonomic nervous system resulting in increased sweating, dermal dis- coloration, motor incoordination, cyclic vomiting, blood pressure lability, emotional difficulties, and frequent respira- tory infections.
Can lead to corneal denervation, producing neurotrophic keratitis and congenital opacities.
Inheritance of metabolic corneal diseases
AR
With the exception of MPS-II (Hunter’s) X-Linked Recessive
Which Mucopolisacaridosis are most likely to produce
What type of enzime are affected in the mucopolisacaridosis?
Neuraminidase
What mucolipidosis produce congenital corneal clouding?
MLS II & IV
How can the diagnosis of a mucopolisacaridosis be confirmed?
Messure the urinary excretion of glucosaminoglicans.
Other than corneal deposits, how can cystinosis affect the patient?
Kidney failure
Pancreatic endocrine insufficiency
Hypothyroidism
Myopathy
Neurologic Deficits
What therapeutic benefits does topical cysteamine offers to a cystinosis patient?
- Reduced cystine deposition (i.e. After corneal transplant).
- reduce corneal opacities
- Reduce pain caused by corneal erosions
What type of metabolic disorder is Fabry disease?
It is a Sphingolipidosis.
Inheritance of Fabry’s Disease
X Linked Recessive
Name Ocular findigs of Fabry’s Disease
Ocular manifestations can appear as soon as 6 month of age.
- Corneal Opacity (90%)
- Conjuntival vascular changes (60%)
- Retinal vessel tortuosity (55%)
- CAtaratct (50%)
*
How is the corneal opacity of a patient with fabry’s disease?
Initially, a fine diffuse epithelial haze.
Later on, a fine, curving, creamy white lines radiating from a point inferior to the center of the cornea (cornea verticilata)
Which tipe of tyrosinemia is related to corneal opacity?
Tyrosinemia type II.
What is the triad of Tyrosinemia type II?
Dendriform keratitis
Hiperkeratotic lesions of palms and soles
Mental Retardation
How can you differenctiate the keratitis found in a patient of tirosinemia type II form that of Herpes Simplex?
- Morphologic appearance
- bilateral presentation
- Young age (vs any age)
- lack of response to antiviral therapy
- Associated Systemic findings
Which enzime is affected in tyrosinemia type II?
Hepatic Cytosol Tyrosine aminotransferase
What are the posible corneal manifestations of an infant with fetal alcohol syndrome?
- Variable Corneal Opacities
- Peter’s Anomaly
- Axenfeld-Rieger
What percetaje of patients with peter’s anomaly develope glaucoma ?
50%,
(or up to 80%)
Laterality of peter’s anomaly?
Bilateral in 80% of cases.
What is the difference of peter’s anomaly tipe I and II?
Type I: the mild form. Central corneal opacity associated to iridocorneal adhesions.
Type II: severe form, with involvement of the lens and other ocular abnormalities.
Name Histopathological findings of a cornea with peter’s anomaly
- Central ulcer
- Abscent endothelium and descemet’s in the posterior face of the ulcer.
- abnormal bowman’s (thickend or absente…)
- Disordered stromal lamellae in the ulcer’s bed.
- Iridocorneal adhesions to the margin of the ulcer.
An error in the micgration of which embriological tissue is responsible for peter’s anomaly?
Neural Crest Cells.
Inheritance of peter’s anomaly
Mainly Sporadic
AD and AR have also been documented (This must be taken into consideration for genetic counseling)
Is posterior keratoconus related to Keratoconus
NO
It is thought to correspond to a milder variant of peter’s anomaly.
Describe the natural course of posterior keratoconus
It hace been classically conceived as a non progressive disorder, usually restricted to the center of the cornea.
It has now been documnted that it can progress to affect corneal survace, anterior curvature and significantly affect visual capacity.
Presentation of a patient with Congenital Anterior Staphyloma (corneal )
Congenital anterior staphyloma (CAS) is characterized by a protuberant blue-ish corneal opacity.
It may extend beyond the plane of the eyelids, and secondary epithelial metaplasia into keratinized, stratified, squamous epithelium occurs. The anterior segment frequently is disproportionately enlarged and extremely dis- organized. There is virtually no possibility of attaining useful vision. One or both eyes may be involved.
Name the three corneal distrophies that can present with congnital corneal clouding:
- Congenital Endotelial Corneal Dystrophy
- Posterior Polimorphus Corneal Dystrophy
- Congenital Stromal Corneal Dystrophy
What is the usual anatomical place where corneal dermoids arrise?
In the inferotemporal corneo scleral junction.
Is a Dermoid a choristoma or a hamartoma?
A choristoma
Can a Dermoid invade the anterior segment?
It is a benign lesion, with little to no progression at all. Therefore, it is not an invasive tumor.
Never the less, it may involve the deep corneal stroma, descemet and endothelium or even replace all tissue anterior to the iris pigment epithelium.
Describe the 3 grades of corneal dermoids:
- Grade 1: <5mm, single, limbal or epibulbar, inferotemporal.
- It may enlarge.
- is the most frequent type.
- 1/3-2/3 associated to goldenhar Sd.
- Associated to other abnormalities of the anterior segment and second branchial Arch.
- Grade 2: Much larger. Covers part or the entire corneal surface.
- Does not affect the endothelium or descemet’s
- Grade 3: Most severe. Total Corneal and anterior segment involved.
- May associate microphthalmos and posterior segment abnormalities.
What is this lesion?
Limbal dermoid.
Name the following lesion
Corneal Keloid.
They are described as white, sometimes protuberant masses with a glistening or jelly-like appearance. The one in the image is protuberant and vascularized, resembling a corneal dermoid, it can be clinically distinguished by the more white-ish color.
