Homozygous granular corneal dystrophy type II (Avellino corneal dystrophy): natural history and progression after treatment.
OBJECTIVE
To describe the clinical features of homozygous granular corneal dystrophy type II (GCDII) with age and with several kinds of treatment in 18 homozygous patients in several different conditions.


METHODS
Eighteen homozygous GCDII patients, confirmed with DNA analysis, of 13 families were enrolled. Their clinical features that include age at detection by parents, visual acuity, and disease progression were evaluated. We also studied the recurrence patterns for the 13 patients who underwent phototherapeutic keratectomy, penetrating keratoplasty, lamellar keratoplasty, or deep lamellar keratoplasty.


RESULTS
The age at detection by the parents ranged from 3 to 5 years; visual loss begins in childhood with progression into the 20s. All of the patients who had undergone surgeries acquired better vision immediately after surgery. Corneal deposits reappeared soon after treatments. Recurrences became progressively more rapid and severe with treatments.


CONCLUSIONS
The clinical features of homozygous GCDII are characterized by a severe granular type of corneal dystrophy with an early onset and rapid progression. After surgical treatment, recurrence is rapid and severe.
Moon
Jong Wook
JW
Corneal Dystrophy Research Institute, Department of Ophthalmology, Yonsei University College of Medicine, Seoul, Korea.
Kim
Sun Woong
SW
Kim
Tae-im
TI
Cristol
Stephen M
SM
Chung
Eui Sang
ES
Kim
Eung Kweon
EK
D000293:Adolescent; D000328:Adult; D000375:Aging; D002648:Child; D002675:Child, Preschool; D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis* / Q000235:genetics* / Q000601:surgery; D004252:DNA Mutational Analysis; D018450:Disease Progression; D016326:Extracellular Matrix Proteins / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D017354:Point Mutation / Q000235:genetics; D012008:Recurrence; D054140:Refractive Surgical Procedures; D016212:Transforming Growth Factor beta / Q000235:genetics; D014792:Visual Acuity; D000099222:betaIG-H3 Protein
D016326:Extracellular Matrix Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein