41/360. R124C mutation of the betaIGH3 gene leads to remarkable phenotypic variability in a Greek four-generation family with lattice corneal dystrophy type 1. Five autosomal dominantly inherited corneal dystrophies are caused by missense mutations in the betaIGH3 gene on chromosome 5q31. Here we describe the clinical features and the analysis of the betaIGH3 gene in a Greek four-generation family with lattice corneal dystrophy type 1 (CDL1). Sequencing of the betaIGH3 cDNA from an affected family member revealed the R124C mutation. More recent data indicate that this is probably a mutation hot spot in CDL1. We could not find a common haplotype with another CDL1 family with the R124C mutation demonstrating that this mutation occurs independently in different families. The clinical course of the disease showed a remarkable variability between the affected family members. To investigate a possible role between the phenotypic variability and apolipoprotein E (ApoE), which co-localises with amyloid deposits in CDL1, we determined the ApoE genotype of all family members. The resulting data revealed no association with the variable clinical course. ( info) |
42/360. Early pellucid marginal corneal degeneration: case reports of two refractive surgery candidates. PURPOSE: To report two refractive surgery candidates who demonstrated early corneal topographic findings of pellucid marginal degeneration. methods: case reports. RESULTS: Two candidate patients for corneal laser surgery were examined. The patients had normal examinations, including normal slit lamp biomicroscopy results and corrected visual acuity that was 20/20 or better in each eye. The corneal topography in one eye of patient I and both eyes of patient 2 was characterized by the presence of irregular astigmatism and inferior corneal steepening with a pattern consistent with pellucid marginal degeneration. Marked asymmetry between the eyes was noted. The inferior cornea was thinner than the central cornea in both eyes of each patient. CONCLUSION: patients with early corneal ectasia often present as refractive surgery candidates with normal corrected visual acuity and normal pachymetry of the central cornea. corneal topography and regional pachymetry measurements can be used to identify these patients. patients with pellucid marginal degeneration are not good candidates for refractive surgery because of the potential for poor outcomes and the possibility that iatrogenic thinning of the cornea could lead to progression of the disease. ( info) |
43/360. keratoconus associated with corneal granular dystrophy in a patient of Italian origin. PURPOSE: To report a rare case of keratoconus concurrent with granular dystrophy in a patient of Italian origin. It is the seventh case in the literature and the second histopathologically documented case. methods: keratoconus combined with granular dystrophy developed bilaterally in a 15-year-old boy from italy. The corneal host button of the left eye obtained during penetrating keratoplasty 8 years later was analyzed histologically, immunohistochemically, and ultrastructurally. RESULTS: Histologic evaluation showed characteristic features of keratoconus, such as breaks in Bowman's layer and typical electron-dense trapezoidal deposits ultrastructurally. Other corneal dystrophies, such as Avellino dystrophy, were excluded. CONCLUSIONS: The concurrence of keratoconus and granular dystrophy raises the possibility of a genetic linkage of the diseases, although a chance association cannot be excluded. The diagnosis of keratoconus in patients with granular dystrophy is important because impairment of vision might be the result of keratoconus and could be treated with contact lenses instead of keratoplasty. In the future, the use of computerized corneal topography might help to detect more cases of keratoconus concurrent with granular dystrophy. ( info) |
44/360. Posterior amorphous corneal dystrophy: ultrasound biomicroscopy findings in two cases. We present two cases of posterior amorphous corneal dystrophy in members of the same family. We correlated the clinical findings with refraction, topography, and ultrasound biomicroscopy (UBM). This is the first report of UBM findings in amorphous corneal dystrophy and we describe the depth of stromal opacification measured in this exam. Additional cases will be of great help to reinforce these findings. ( info) |
45/360. Exacerbation of Avellino corneal dystrophy after laser in situ keratomileusis. PURPOSE: To report a case of Avellino corneal dystrophy that increased in severity 1 year after uncomplicated laser in situ keratomileusis (LASIK) for myopia. methods: Avellino dystrophy was confirmed by polymerase chain reaction sequencing of dna from the patient and her parents. RESULTS: Best spectacle-corrected visual acuity decreased from 20/20 to 20/30 12 to 20 months after LASIK owing to opacities that appeared centrally in the corneal stroma and the LASIK flap and remaining posterior stroma interface. CONCLUSIONS: LASIK is contraindicated in patients with Avellino corneal dystrophy because vision may be reduced by corneal opacities that appear in the interface of the flap and remaining posterior stroma postoperatively. ( info) |
46/360. Corneal electrolysis for recurrence of corneal stromal dystrophy after keratoplasty. AIMS: To evaluate corneal electrolysis as a treatment for recurrent diffuse corneal opacities at the host-graft interface of the stroma or at the subepithelial region in two types of granular corneal dystrophy (GCD). methods: recurrence developed at the host-graft interface of the stroma after lamellar keratoplasty in a patient with Avellino corneal dystrophy (ACD). At surgery, the deep aspect of the graft in this patient was partially separated from host tissue to expose the deposits, with one third of the host-graft junction left intact. The graft was everted, and electrolysis was applied directly to remove the deposits attached to both surfaces of the host and the graft. Then the graft was returned to its place and sutured. In two patients with homozygous ACD and one patient with the superficial variant of GCD, diffuse subepithelial opacities developed following penetrating keratoplasty. electrolysis was applied directly to the corneal surface. RESULTS: Deposits at the host-graft interface of the stroma and in the subepithelial region disappeared following treatment, and vision recovered in all patients. CONCLUSIONS: This method is a simple, easy, and inexpensive way to remove deposits that recur after lamellar or penetrating keratoplasty. ( info) |
47/360. Differences in amyloid deposition in primary and recurrent corneal lattice dystrophy type 1. PURPOSE: To report the histopathology of a case of recurrent corneal lattice dystrophy showing altered distribution of the corneal deposits in the recurrent disease compared with the original. methods: Clinical details and histopathology of the primary and repeat corneal grafts are reported. RESULTS: A woman originally presented at age 28 years with reduced visual acuity and classic corneal lattice lines in both corneas and underwent bilateral corneal grafts. Recurrent disease was detected 20 years later as anterior haze and various-sized subepithelial opacities but no stromal lattice lines. histology of the original corneas demonstrated amyloid deposits throughout the corneal stroma, typical of corneal lattice dystrophy. In the repeat grafts, amyloid deposits were confined to the basement membrane region of the anterior cornea and were almost entirely absent from the stroma of the cornea. CONCLUSION: recurrence of corneal lattice dystrophy is widely recognized to occur, but the pathology of the recurrent disease is not well documented in the literature. This case report highlights that there may be a difference in the distribution of the deposits when the disease recurs. We postulate that the reason for this difference may be that donor keratocytes survive long enough in the transplanted cornea to prevent build-up of abnormal keratoepithelin, the product of the mutated gene in type 1 corneal lattice dystrophy. By contrast, the epithelium, being replaced by host epithelium shortly after grafting, is still producing abnormal protein. The differences in the pattern of deposits may have important clinical implications, particularly regarding treatment modalities in recurrent disease. ( info) |
48/360. Two brothers with gelatinous drop-like dystrophy at different stages of the disease: role of mutational analysis. PURPOSE: A report of two Japanese brothers with gelatinous drop-like corneal dystrophy, one with and one without the typical gelatinous drop-like region. DESIGN: Interventional case report and observational case report. methods: After penetrating keratoplasty, the corneal button, right eye, of the elder brother, 39 years of age, was stained and examined by microscopy. The M1S1 and BIGH3 genes were examined for mutations using the polymerase chain reaction and direct sequencing. Corneal abnormalities in the younger brother, 37 years of age, were observed. RESULTS: The elder brother had bilateral gelatinous prominences and band-shaped corneal opacities, whereas the younger brother had only bilateral band-shaped opacities. Histologically, corneal deposits beneath the epithelium stained with congo red. Molecular genetic analysis revealed that M1S1 was homozygously mutated in both brothers (Q118X). CONCLUSION: The Q118X mutation of the M1S1 gene can produce either a gelatinous drop-like region or band-shaped opacities. ( info) |
49/360. Microstructural analysis of Salzmann's nodular degeneration by in vivo confocal microscopy. A 44-year-old man with symptoms of ocular irritation and corneal changes characteristic of Salzmann's nodular degeneration in the left eye was examined using in vivo confocal microscopy. In vivo confocal microscopy highlighted an irregularly shaped basal epithelium with foci of prominent nuclei, and disrupted anterior stromal architecture with increased reflectivity of extracellular matrix within the nodules. These observations were consistent with prior histopathological descriptions of Salzmann's nodular degeneration. In vivo confocal microscopy enhances the clinicopathological assessment of degenerative corneal diseases, such as Salzmann's nodular degeneration, without the need for biopsy. ( info) |
50/360. Central discoid corneal dystrophy. PURPOSE: To present a small kindred with a unique dominantly inherited corneal stromal dystrophy. methods: A 31-year-old man was noted to have bilateral, symmetric, central discoid corneal stromal opacification. We performed bilateral penetrating keratoplasties for decreased visual acuity, glare, and photophobia. RESULTS: light microscopy revealed multiple extracellular vacuoles, concentrated in the anterior one-half of the central corneal stroma. Material within the vacuoles demonstrated intense reactivity with alcian blue and colloidal iron stains, consistent with glycosaminoglycan deposition. Transmission electron microscopy demonstrated nonmembrane-bound vacuoles in the stroma that contained a faintly osmiophilic matrix and black circular profiles. Immunohistochemical analysis of the vacuolar deposits revealed that chondroitin sulfate was the primary glycosaminoglycan present. A clinical and serologic evaluation revealed no evidence of a systemic storage disorder. Genetic analysis did not reveal a mutation in the coding region of the CHST6 gene. CONCLUSIONS: Given these unique clinical and histopathologic findings as well as nearly identical clinical findings in the patient's father and one of four brothers, the authors believe that this represents a previously unreported, dominantly inherited corneal stromal dystrophy. ( info) |