Late occurrence of granular dystrophy in bilateral keratoconus: Penetrating keratoplasty and long-term follow-up.

We report a rare case of keratoconus with granular dystrophy with a follow-up of two decades, documenting the sequential presentation of two diseases confirmed by histology and genetic studies. A 13-year-old boy was diagnosed in 1988 with keratoconus in both eyes (BE) based on slit-lamp biomicroscopy findings of corneal ectasia in BE accompanied by Fleischer's ring, Vogt's striae, a small, old, healed hydrops. The left eye (LE) had central corneal thinning and scar in the central area involving the mid and posterior stroma secondary to healed hydrops. Penetrating keratoplasty (PKP) was advised. The boy was lost to follow-up till 1991 and presented with white, dot-like opacities in the central cornea in the RE only, suggestive of granular corneal dystrophy. Similar findings of white, dot-like opacities were noted in the LE in 1995 and the patient subsequently underwent PKP in BE. Histopathology of corneal buttons confirmed the presence of patchy, crystal-like orange deposits, which stained bright red with Masson's trichrome. Mutational analysis of the TGFBI gene in patient's DNA revealed a heterozygous mutation corresponding to a change in Arg555Trp in the keratoepithelin protein. Granular dystrophy recurred after 8 years in the RE.

Clinical Manifestations of Avellino Corneal Dystrophy Diagnosed by Non-invasive Genetic Test

PURPOSE: To introduce a new genetic method for the diagnosis of Avellino corneal dystrophy (ACD), which is non-invasive and can be easily performed on an outpatient basis, and to evaluate the relationship between the degree of corneal opacity and age or sex. METHODS: A genetic study was performed on 11 patients who had a specific corneal opacity by slit-lamp examination and on four normal patients by using a specific adhesive tape to obtain epidermal keratinocytes. Corneal dystrophy was diagnosed according to the genetic study. RESULTS: All 11 patients were confirmed as having heterozygous ACD. Heterozygous ACD patients were classified into five stages: trace, mild, moderate, severe, or very severe, based on slit-lamp photography status. Corneal stages had no relationship with sex (p=0.982), but the severity of ACD increased with age (p=0.005). CONCLUSIONS: A non-invasive sticker-type genetic study kit, the "U-gene test" is a good method to diagnose corneal dystrophy genetically. Avellino corneal dystrophy becomes more severe over time but has no relationship with sex.

Epidemiology of Corneal Dystrophy in Korea

PURPOSE: Information regarding corneal dystrophy among Koreans were examined according to the subtypes. METHODS: Two hundred sixteen patients, 340 eyes, diagnosed as corneal dystrophy and followed by one ophthalmologist from the year 1993 to 2001 were include. The incidence of the disease, the progression level of visual impairment, differences between genders, treatment method, and rate of recurrence after the treatment were analyzed according to the location of the lesion. RESULTS: Granular dystrophy was the most common type (103 eyes, 29.17%). There were 84 eyes (23.61%) with Fuchs dystrophy and 46 eyes (12.96%) with macular dystrophy. Macular dystrophy had the most rapid disease progression with 0.18 reduction in eyesight every year. There was a higher prevelance in female than male granular dystrophy (15.9/84.1%) and in Fuchs dystropy (23.5/76.5%). Keratoplasty was the most popular method of treatment in 45%. CONCLUSIONS: There was no difference of prevalence in between Koreans and Western people. The most common type of corneal dystrophy was granular dystrophy. Infrequent type of dystrophy tended to increase by virtue of the development in diagnotic medicine.

Staining Characteristics of Granular Deposits of Granular Dystrophy in Six Cases

Penetrating keratoplasty was performed in six eyes of granular corneal dystrophy. Vision was improved from worse than 0.05 to better than 0.4. Mean follow-up period is 14 months (12-18 months). Corneal deposits were stained for H and E. Masson trichrome, Wilder's reticulin and Luxol fast blue but not for PAS, Congo red and Oil red a stain. Electron micorscopic examination showed that polymorphic, electron dense rod-shaped bodies were present in the Bowman's layer and between stromal lamellae and in the interceliular space of corneal epithelium. And, for the first time we found a area looked like a transformation from normal stroma to the granular deposit.