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Purpose: To diagnose Thiel-Behnke dystrophy, an autosomal dominant disease of the anterior basement membrane/Bowman membrane complex and corneal stroma, currently relies primarily on the overall clinical presentation of patient complaints, inheritance pattern, and physical appearance of the corneal findings on slit-lamp examination. Key challenges to accurately identifying the disease are variable and often obscured morphology caused from secondary scarring, creating phenotypic deviation from the "classical" presentation, and mimicry of characteristics typical of other closely related dystrophies. In this report, we demonstrate the high degree of phenotypic variability that can be found in this disease., Methods: A well-characterized family with an established diagnosis of Thiel-Behnke dystrophy mapped to chromosome 10 was evaluated along with the corresponding pedigree. Each individual was examined under slit lamp, and any apparent lesions were photographed., Results: In total, 4 generations were represented with 20 affected members accounted for, ranging from ages 11 to 86 years. We observed 4 phenotypes in this family: (1) the majority displayed "honeycomb" reticular opacities consistent with Thiel-Behnke dystrophy, (2) several subjects showed more granular-like deposits in a geographic distribution, (3) younger subjects with possible early manifestations of the disease possessed small superficial vesicles, and (4) some eyes exhibited an intermediate form with 2 distinct disease presentations at different regions within the same cornea. Taken together, the pedigree demonstrated a wide continuous spectrum of phenotypes from a supposedly singular genetic disorder that may also vary based on the age of patient., Conclusions: These observations show that the clinical phenotypic appearance alone can result in a variety of different and conflicting diagnoses. With such potential for error, improvement in the diagnostic criteria is necessary.

Purpose: To report nine cases of tyrosinemia type II, with ocular signs and symptoms., Methods: Participants included nine patients (18 eyes) who were followed for a mean follow-up period of 6.5 years (range, 2 to 8 years). Intervention included dietary restriction of tyrosine and phenylalanine, which led to resolution of ocular and cutaneous lesions, improved behavior in one patient, and may have prevented developmental delay in others. The main outcome measures were visual acuity and serum tyrosine levels to determine the response to dietary therapy. Intelligence testing and developmental screening were performed when appropriate., Results: All patients presented with ocular signs and symptoms as the primary manifestation of disease and serve to illustrate the typical ocular findings of this syndrome. Three patients presented with cutaneous manifestations, and one patient had mild mental impairment at the time of diagnosis., Conclusions: Recalcitrant pseudodendritic keratitis may be the presenting sign in tyrosinemia type II. Awareness of the presenting signs and symptoms may accelerate the diagnosis and dietary intervention. Initiation of a tyrosine-restricted and phenylalanine-restricted diet in infancy is most effective in preventing cognitive impairment.

Purpose: To describe an alternative, novel surgical approach to the repair of a ruptured globe in the second reported patient with keratoglobus, Ehlers-Danlos type VI, and normal lysyl hydroxylase., Methods: Under general anesthesia, a 360 degrees conjunctival peritomy was performed and the epithelium was removed from the keratoglobus cornea. Descemet's membrane and endothelium were removed from a fresh donor corneoscleral ring. An onlay epikeratoplasty was then performed and the entire donor corneoscleral button was secured to the sclera with 9-0 nylon suture. The conjunctiva was brought into position and tacked down over the edge of the donor graft. After 4 months, a full-thickness penetrating keratoplasty was then performed., Results: The patient ultimately had a ruptured globe in the fellow eye and thus required the identical procedure OU. Both eyes were successfully repaired with a final visual acuity OU of 20/100., Conclusion: The described surgical approach allowed successful surgical repair of bilateral ruptured globes in a patient with keratoglobus, Ehlers-Danlos type VI, and normal lysyl hydroxylase levels. In the previous report of such a patient by Judisch et al. (1), the attempt at surgical repair was unsuccessful and ended in enucleation. The described surgical technique may be used to treat advanced keratoglobus or oculus fragilis.

Purpose: The purpose of the study is to report the outcome and postoperative topographic analysis of seven patients who underwent small-diameter, round, eccentric penetrating keratoplasty., Methods: Seven patients underwent small-diameter, round, eccentric penetrating keratoplasty for a variety of corneal disorders (cataract wound necrosis and dehiscence or fistula, three patients; penetrating keratoplasty wound infection, two patients; corneal rheumatoid melt and perforation, one patient; localized fungal keratitis, one patient). Full-thickness corneal transplants ranged in size from 3.0 to 5.5 mm. The graft wound and sutures spared the visual axis in all cases. Patients were observed for 7 to 42 months (mean, 21 months). All patients had postoperative topographic analysis. One of these also had preoperative analysis., Results: All grafts tectonically were effective in treating the intended condition. Best-corrected visual acuity was 20/30 or better in the four patients without pre-existing corneal transplants or dry eyes; 20/60 and 5/200 in the patients with previous central penetrating keratoplasties; and 20/40 in the patient with rheumatoid melt. There was no clinically significant regular or irregular astigmatism induced centrally by the eccentric graft in the four patients where visual acuity was 20/30 or better. Irregular astigmatism was noted in the other three patients., Conclusion: Small-diameter, eccentric penetrating keratoplasties may be used successfully to treat various peripheral corneal disorders. In some cases, this can be performed without inducing high or irregular astigmatism or both centrally.

This study was conducted to provide experimental information on the probability of syphilis transmission resulting from corneal transplantation. To determine the effects of commonly employed corneal storage conditions on the survival and infectivity of Treponema pallidum, T. pallidum subsp. pallidum (Nichols) was inoculated into OptiSol storage medium or a T. pallidum survival medium at a concentration of 10(6)/ml and incubated in cornea viewing chambers for 24 h at 4 degrees C. When inoculated intradermally into rabbits (0.1 ml per site), none of the 10 sites developed lesions from suspensions incubated in OptiSol in the presence or absence of 100 microgram/ml gentamicin; T. pallidum incubated in the survival medium yielded lesions at one of 10 sites, whereas freshly extracted organisms produced lesions at all 10 sites. In another set of experiments, the infectivity of corneal tissue from rabbits inoculated intratesticularly with 2 x 10(7) T. pallidum 10 days earlier was determined. Corneas from five T. pallidum-infected rabbits were excised, extracted, and tested for infectivity either immediately after removal or after 24-h storage in OptiSol. Recipient rabbits developed lesions at five of 50 intradermal sites when the corneas were neither stored in OptiSol nor rinsed before extraction. Corneas from 10 donor rabbits that were rinsed with phosphate-buffered saline to remove blood and aqueous humor before extraction did not yield lesions at any of 200 sites in the recipient animals. The results of this study indicate that retention of T. pallidum infectivity is poor under typical corneal storage conditions and that rabbit corneal tissue contains few, if any, infectious T. pallidum organisms under the experimental conditions employed.