Lenz syndrome in two sisters: clinicopathologic correlations of the ocular anomalies.

BACKGROUND: The Lenz syndrome (Mendelian inheritance in Man catalog number 309,800) is a presumed X-linked recessive disorder. Major diagnostic criteria include ocular, skeletal, and urogenital manifestations. We describe two sisters and the two sons of one of them with Lenz syndrome. The eye from one boy was removed because of pain and total loss of vision, allowing histopathologic documentation of the ocular malformations. METHODS: Clinicopathologic case report. RESULTS: Two sisters in this family displayed several of the major diagnostic criteria of the Lenz syndrome. The stunted growth of the eye, and the ocular and non-ocular anomalies defines the microphthalmos as monogenic, complex, and colobomatous. CONCLUSION: The pattern of inheritance of Lenz syndrome is best explained by X-linked dominant transmission. Future reports of familial cases with an excess of affected females are needed to confirm this hypothesis.

Corneal blood staining following autologous blood injection for hypotony maculopathy.

Hypotony is a common complication following trabeculectomy in which antimetabolites are used. Autologous blood injection is an accepted form of treatment for hypotony that occurs secondary to overfiltration; however, injection into the filtering bleb has been associated with a rise in intraocular pressure for some patients with chronic postoperative hypotony. The authors describe a patient in whom corneal blood staining with raised intraocular pressure and loss of vision occurred as a result of autologous blood injection.

Age-related accumulation of 1-methyl-1,2,3,4-tetrahydro-beta-carboline-3- carboxylic acid in human lens.

A fluorescent beta-carboline, 1-methyl-1,2,3,4-tetrahydro-beta-carboline-3- carboxylic acid (MTCA) was identified in human normal lenses and cataractous lenses. The mean total amounts of MTCA in normal lenses (n = 7), diabetic cataractous lenses (n = 15), and senile cataractous lenses (n = 15) were 0.64 +/- 0.76 ng, 1.79 +/- 0.94 ng, and 3.66 +/- 1.04 ng, respectively. The MTCA levels in human lenses increased linearly with the age of the lenses, and there was a significant correlation between the total amount of MTCA in human lenses and the age of the lens. In all types of lenses, the concentrations of MTCA in the insoluble-protein fraction [pg (mg protein)-1] were significantly higher than those in the water-soluble protein fraction. These results suggest that MTCA may be one of the age-related fluorogens. In vitro experiments revealed that MTCA, a condensation reaction product of tryptophan with acetaldehyde, can be formed in the mixture of tryptophan and glucose by low temperature heating. Furthermore, the MTCA levels in the homogenate of cataractous lenses were significantly increased with the heating time, when the homogenate without addition of glucose and tryptophan was heated at 60 degrees C. This indicates that enough material such as tryptophan for MTCA formation is present in human cataractous lenses. Therefore, it may be that MTCA is formed in human lens. However, we can not rule out the possibility that MTCA in the lens may be derived from other sources, and deposited in the lens since MTCA is reported to be present in various foodstuffs and alcoholic beverages.

Clinical experience with the Baerveldt glaucoma drainage implant.

PURPOSE: To assess clinical outcomes in patients who were treated with the Baerveldt glaucoma drainage implant. METHODS: The authors performed a retrospective multicenter study of 100 patients (103 eyes) with medically uncontrollable glaucomas who underwent a one-stage implantation with either the 200-, 250-, 350-, or 500-mm2 Baerveldt implant. The authors defined surgical success as 5 mmHg less than intraocular pressure less than 22 mmHg without additional glaucoma surgery and without loss of light perception. RESULTS: With a mean follow-up of 13.6 +/- 0.9 months (range, 4-37 months), 74 eyes (71.8%) had successful outcomes. Cumulative life-table success rates were 90.3% at 3 months (n = 103), 72.6% at 6 months (n = 84), and 60.3% at 24 months (n = 34). Intraocular pressure (IOP) was reduced from a mean of 38.5 +/- 1.4 mmHg with 2.2 +/- 0.1 antiglaucoma medications to 15.1 +/- 0.8 mmHg (P < 0.0005) with 0.5 +/- 0.1 antiglaucoma medications (P < 0.0005). Visual acuity was improved or remained within one line of the preoperative visual acuity in 90 eyes (87.4%). Complications occurred in 74 eyes (71.8%). A significant portion of these complications (45%) was transient, resolving without any intervention. Only 8% were serious sight-threatening complications. The most common complications included shallow anterior chamber or hypotony (32%), choroidal effusion or hemorrhage (20.4%), corneal decompensation or edema (17.5%), hyphema (14.1%), and tube obstruction (12.6%). CONCLUSION: The Baerveldt implant is effective in lowering the IOP in patients with intractable glaucomas. Hypotony and other complications are common, which also have been reported in other nonvalved glaucoma drainage implants. However, the majority of these complications did not affect surgical outcome.

Ciliary body neurilemoma. Unusual clinical findings intimating the diagnosis.

BACKGROUND: Neurilemomas (schwannomas) rarely occur intraocularly. When present, they pose a diagnostic dilemma for the physician and often are mistaken as a malignant lesion, resulting in enucleation. METHODS: The authors report the clinical findings of a 46-year-old man with a slowly progressive growing mass of the anterior chamber, associated with glaucoma and the development of cataract. To further delineate the tumor's features, ancillary techniques, including ultrasonography, computed tomography, and magnetic resonance imaging, were conducted. A definitive anterior chamber biopsy of the tumor was performed with histologic examination and electron microscopy. RESULTS: Ultrasonography, high-resolution computed tomography and magnetic resonance imaging showed a well-delineated mass of the inferior ciliary body involving nearly 5 clock hours of the angle. Two clinical features that suggested a longstanding tumor were brilliant transillumination of the mass (leading to the impression of a "cystic mass," not corroborated by ultrasonography) and retrodisplacement of the involved iris root. The histology, and particularly the electron microscopic features, confirmed the diagnosis of a neurilemoma, a benign tumor of the anterior segment. CONCLUSION: Intraocular neurilemomas are extremely rare tumors. Few are well documented with modern ancillary techniques. Clinical findings in conjunction with radiographic and ultrasonic features may support the diagnosis of a benign tumor. For this patient, confirmation via biopsy permitted combined cataract and glaucoma surgery to rehabilitate the eye, which retains 20/20 visual acuity 3 years after the procedure.

Syringocystadenoma papilliferum of the eyelid.

Syringocystadenoma papilliferum is a benign adnexal tumor of the scalp and face. We treated syringocystadenoma papilliferum in a 31-year-old man who had a circumscribed cup-shaped lesion of the left upper eyelid with a central crater. On histologic examination, the epidermal edge showed hyperkeratosis and invasive acanthosis with papillary projections that filled the central crater. The deeper portions of the projections resembled ductal structures lined by an inner columnar epithelium, which demonstrated luminal apical decapitation secretions, and an outer layer of smaller cuboidal cells. The fibrovascular dermal tissue exhibited prominent plasmacytic infiltration underlying the papillary epithelium. Although rare, syringocystadenoma papilliferum should be considered in the differential diagnosis of umbilicated squamous or basal cell tumors, especially if noted in a young individual.

Mitomycin in the treatment of hypertrophic conjunctival scars after strabismus surgery.

A recognized complication of strabismus surgery is the development of hypertrophic conjunctival scars over the operated-on muscle. Our standard treatment of these scars has been excision followed by corticosteroid eye drops, which results in a scar recurrence rate of 33%. Antimetabolic chemotherapeutic agents, such as mitomycin, can reduce posttraumatic scarring and vascularization of the ocular surface. We studied the use of mitomycin eye drops as an adjunct to standard treatment of hypertrophic conjunctival scars after strabismus surgery. Four patients were treated with adjunct mitomycin eye drops (0.2 to 0.4 mg/ml). Postoperative follow up ranged from 16 to 56 weeks. None of these cases showed significant scar recurrence. Mitomycin in the higher dosage caused mild superficial punctate keratitis after 8 days of use. Despite a lamellar sclerectomy in a patient treated with 0.2 mg/ml of mitomycin, there was no further clinically apparent loss of scleral tissue. The results of this pilot study suggest that topical mitomycin is a safe and effective adjunct to excision and corticosteroid eyedrops in the treatment of hypertrophic conjunctival scars after strabismus surgery.

A fluorescent carcinogen, 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine (PhIP) in human lens.

A fluorescent carcinogen, 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine (PhIP) has been identified in both human normal lenses and cataractous lenses. The total amounts of PhIP in normal lenses were 50.7 +/- 36.0 pg (n = 7) while those of PhIP in senile and diabetic cataractous lenses were 143 +/- 29.2 pg (n = 10) and 148 +/- 55.0 pg (n = 10), respectively. Although it was not possible to strictly compare the contents of PhIP among normal, senile and diabetic lenses, due to the limited numbers of normal lenses available, the mean total amounts of PhIP in normal lenses were the lowest among normal, senile and cataractous lenses when allowing for differences in age. Furthermore, there was a significant correlation between total amounts of PhIP in human lenses, and age of the lens, suggesting that the content of PhIP in human lens is increased with age. In all types of lenses, the concentrations of PhIP in the insoluble-protein fraction (pg mg-1 protein) were significantly higher than those in the water-soluble protein fraction. In addition, PhIP was formed when bovine lens was incubated at 37 degrees C under the presence of creatinine and glucose for various time periods, and the yield of PhIP during incubation was found to be time-dependent. The results from our study suggest that PhIP may be one of the age-related fluorogens in the human lens.

Corticosteroid-induced cataracts.

The association linking corticosteroid therapy with the development of posterior subcapsular cataracts has been well documented. These drugs are widely used therapeutically, principally to capitalize on their ability to inhibit inflammatory responses. The literature on corticosteroid-induced posterior subcapsular cataracts is reviewed here. Data from the previously published series and individual lens susceptibility to corticoids do not allow the establishment of a direct factor relating cataract formation to corticosteroid dose and the duration of therapy; however, significant progress has been made in elucidating the mechanism by which corticoids bring about the development of these opacities. Exploration into the development of these lesions has shed light on the similarities these opacities share with other cataracts, especially with regard to location and pathogenesis.

Nonenzymatic modification of lens crystallins by prednisolone induces sulfhydryl oxidation and aggregate formation: in vitro and in vivo studies.

Steroid-induced cataracts occur as a consequence of prolonged, therapeutic levels of glucocorticoids. Previous studies have shown that these lens opacities are associated with the occurrence of covalent glucocorticoid-lens protein adducts. In vitro, the glucocorticoid prednisolone nonenzymatically modifies the lysine residues of lens crystallins. This modification increases the reactivity of protein thiols and leads to the formation of high-molecular-weight, disulfide-linked aggregates. Prednisolone-induced aggregates result in an opalescence in the crystallins solution which is reversed by the addition of dithiothreitol. The acetylation of lens proteins prior to incubation inhibits both the incorporation of prednisolone and the development of opalescence. Gel filtration chromatography of the prednisolone lens protein incubations shows that the majority of the protein-incorporated prednisolone is associated with the disulfide-linked complexes. Similar analysis of proteins obtained from a human steroid-induced cataract demonstrates that prednisolone adducts which form in vivo are also present in reducible, high-molecular-weight complexes. These results implicate the nonenzymatic modification of lens crystallins in the cataractogenic effect of glucocorticoids and suggest possible pharmacological strategies in preventing this toxic manifestation of steroid therapy.