INHERITANCE PATTERN
AD
Developmentally delayed.
VISUAL ACUITY
Peters anomaly can cause devastating corneal opacity in an infant, leading to severe amblyopia.
FACE AND FACIAL SYMMETRY
Microphthalmos +/-
Nystagmus - In severe cases
CORENA & IRIS
Anterior segment examination reveals an opacification on the cornea with underlying loss of endothelium and Descemet's membrane and overlying corneal edema. Iris strands can often be attached to the opacified cornea's area. These strands may or may not be still connected to the body of the iris. Corectopia is frequently present in addition to a shallow anterior chamber. In addition, in type II Peters, the lens is typically adherent or closely abutting the cornea.
PUPIL
Correctopia and iris hypoplasia
LENS
The lens, if it can be seen, may have cataracts.
POSTERIOR SEGMENT
Coloboma of Choroid
Optic nerve hypoplasia and atrophy
PHPV
B-Scan
IOP
Glaucoma can occur in up to 50-90% of cases due to dysgenesis of angle.
FELLOW EYE
Bilateral in 60-80% of cases
SYSTEMIC CONDITIONS
Developmental delay
Congenital heart disease
Structural defects of the neurologic system
Spinal defects
Genitourinary abnormalities
External ear abnormalities
Hearing loss
Cleft lip and palate
Short stature
QUESTIONS:
What are the etiology and types of Peters's anomaly?
Peters anomaly is one disease in a constellation of diseases that causes corneal opacity due to dysgenesis of the anterior segment during development.
Peters type 1 affects the iris, corneal endothelium, and Descemet's membrane, with iridocorneal adhesions.
In addition, Peters type II has lens abnormalities with keratolenticular adhesions and often tends to be bilateral.
Peters Plus Syndrome includes short stature, developmental delay, dysmorphic facial features, cardiac, genitourinary, and central nervous system malformations. These systemic findings are seen in up to 60% of patients. Bilateral Peters is more strongly associated with systemic malformations (71.8%) than unilateral Peters anomaly (36.8%).[3] Peters is also associated with many other ocular pathologies, including glaucoma, sclerocornea, correctopia, iris hypoplasia, cataract, ICE syndrome, aniridia, iris coloboma, persistent fetal vasculature, and microcornea.
What other types of anterior segment dysgenesis do you know of?
Posterior embryotoxon refers to a prominent, anteriorly displaced Schwalbe's line. It can extend 360° around the peripheral cornea or be isolated to a few clock hours, often located in the temporal aspect of the cornea. This condition can be visualized during slit-lamp examination or observed gonioscopically. Despite its appearance, the eye itself typically remains normal.
Axenfeld's anomaly and syndrome. It has the combination of posterior embryotoxon with prominent iris processes, which represent iridocorneal adhesions to and beyond Schwalbe's ring. The syndrome consists of glaucoma and sometimes hypertelorism and facial asymmetry.
Axenfeld-Rieger syndrome (ARS) combines Axenfeld anomaly (posterior embryotoxon) with prominent iris processes and iris stromal atrophy. Other common features include peripheral anterior synechiae, corectopia, ectropion uveae, and pseudopolycoria. Approximately 50% of individuals with ARS develop glaucoma. Additionally, the syndrome may involve skeletal, cranial, facial, or dental abnormalities.
STUMPED = Mnemonic for Congenital Corneal Opacifications
Scleromalacia
Tears in Descemet's – Buphthalmos
Ulcers
Metabolic
Peters
Endothelial Dystrophy – CHED, PPCD
Dermoid - Limbal
Comments