Management Guidelines
Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with congenital stromal corneal dystrophy (CSCD), the evaluations summarized in this section (if not performed as part of the evaluation that led to the diagnosis) are recommended:
Ophthalmologic evaluation that includes the following:
Assessment of visual acuity
Assessment of refractive error
Assessment of motility and strabismus (orthoptic evaluation)
Slit lamp examination
Measurement of corneal thickness using pachymetry
Measurement of intraocular pressure
Consultation with a clinical geneticist and/or genetic counselor
Treatment of Manifestations
The following are appropriate:
Spectacles or contact lenses for correction of refractive errors
Patching and/or surgical correction of strabismus
Keratoplasty. To reduce the risk of amblyopia, penetrating keratoplasty should be considered in children younger than age seven years. Most grafts remain clear after penetrating keratoplasty even in this age group. There is a single report of a successful deep anterior lamellar keratoplasty in a child age four years .
Surveillance
Visual acuity and routine ophthalmologic examination should be performed at least every year in children. Regular surveillance in adults is not necessary unless they have undergone keratoplasty. Affected individuals should be informed about penetrating keratoplasty and advised to contact their eye doctor in case of reduced visual acuity or increased glare.
Source: GeneReviews — "Congenital Stromal Corneal Dystrophy"
