Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.

Inherited retinopathies are a genetically and phenotypically heterogeneous group of diseases affecting approximately one in 2000 individuals worldwide. For the past 10 years, the Laboratory for Molecular Diagnosis of Inherited Eye Diseases (LMDIED) at the University of Texas-Houston Health Science Center has screened subjects ascertained in the United States and Canada for mutations in genes causing dominant and recessive autosomal retinopathies. A combination of single strand conformational analysis (SSCA) and direct sequencing of five genes (rhodopsin, peripherin/RDS, RP1, CRX, and AIPL1) identified the disease-causing mutation in approximately one-third of subjects with autosomal dominant retinitis pigmentosa (adRP) or with autosomal dominant cone-rod dystrophy (adCORD). In addition, the causative mutation was identified in 15% of subjects with Leber congenital amaurosis (LCA). Overall, we report identification of the causative mutation in 105 of 506 (21%) of unrelated subjects (probands) tested; we report five previously unreported mutations in rhodopsin, two in peripherin/RDS, and one previously unreported mutation in the cone-rod homeobox gene, CRX. Based on this large survey, the prevalence of disease-causing mutations in each of these genes within specific disease categories is estimated. These data are useful in estimating the frequency of specific mutations and in selecting individuals and families for mutation-specific studies.

Efficacy of preoperative versus postoperative ketorolac tromethamine 0.5% in reducing inflammation after cataract surgery.

PURPOSE: To compare the efficacy of 30 minute preoperative versus 1 day postoperative administration of ketorolac tromethamine 0.5% ophthalmic solution (Acular) in reducing anterior chamber inflammation after cataract surgery. SETTING: The Hermann Eye Center, The University of Texas Health Science Center-Houston, Texas, USA. METHODS: Fifty eyes of 48 consecutive patients scheduled for phacoemulsification with intraocular lens implantation were included. Before surgery, patients were randomly assigned to start the study drug 30 minutes preoperatively or 1 day postoperatively. No other antiinflammatory agents were used intraoperatively or postoperatively. Main outcome measures were flare and cell counts. RESULTS: Preoperative and postoperative flare and cell counts did not differ significantly between the 2 treatment groups at any time. Both groups showed significant increases in flare (P =.0001) and cells (P =.0001) 1 day postoperatively. Flare and cells returned to baseline levels by day 28 in both groups. There was no significant difference at any time between the 2 groups in the change from the preoperative level of inflammation. CONCLUSIONS: There was no difference between administering ketorolac 30 minutes preoperatively versus 1 day postoperatively in reducing inflammation.

The Houston Vision Assessment Test (HVAT): an assessment of validity. The Cataract Outcome Study Group.

PURPOSE: Cataract surgery is one of the most successful procedures in medicine, and outcome is typically measured by a single factor - improvement in visual acuity. Health-related functional outcome testing, which quantifies the patient's self-reported perception of impairment, can be integrated with objective clinical findings. Based on the patient's self-assessed lifestyle impairment, the physician and patient together can make an informed decision on the treatment that is most likely to benefit the patient. METHOD: A functional outcome test (the Houston Vision Assessment Test - HVAT, copyrighted 1990, 1992) was evaluated in a cataract population of 149 patients from seven study centers. Test results were correlated with objective ophthalmic endpoints. The HVAT divides an estimated total impairment into subcomponents of Visual Impairment (correctable by cataract surgery) and non-visual Physical Impairments (co-morbidities not affected by cataract surgery). RESULTS: In this prospective study, the average Visual Impairment score improved by 19 points (65%) following cataract extraction (the mean HVAT Visual Impairment score was 29 points before surgery and 10 points at 5 months post-surgery, a change of 65%). Physical Impairment remained unchanged by surgery. Visual acuity was a poor predictor of Visual Impairment. CONCLUSIONS: The HVAT has 11 simple questions. It may be self-administered and is available on the Internet: http://www.DHAC.com. The physician may err if his decision in favor of cataract surgery is based only on visual acuity. The HVAT has the potential to guide the decision-making process between patient and physician.

Consensual inflammation following ocular surgery.

PURPOSE: To determine whether a consensual inflammatory response occurs following unilateral phacoemulsification or trabeculectomy in humans. METHODS: Sixty patients undergoing phacoemulsification or primary trabeculectomy were included in the study. Some patients were randomly assigned to have a shield placed on the non-operated eye during surgery. The Kowa laser flare meter (FM-500) and laser cell counter (LC-500) (Kowa Electronics and Optics, Tokyo, Japan) were used to assess the inflammatory response in both eyes. Measurements were taken preoperatively and on postoperative days 1, 7 and 28. The regression analysis with random model effect was used to identify factors which may affect the change of flare and cells in the non-operated eye after surgery. Correlation was evaluated between the inflammatory responses of the paired eyes. A P<0.05 was considered statistically significant for all analyses. RESULTS: The flare and cells in the non-operated eye showed a small, but significant, increase on day 1 (mean flare increased 2.68 photons/ms from preoperative level with P<0.001 and mean cells increased 2.49 cells/0.5 mm3 from preoperative level with P<0.0001). At day 7 the amount of inflammation was still elevated (mean flare increased 0.41 photons/ms from preoperative level with P<0.001 and mean cells increased 0.63 cells/0.5 mm3 from preoperative level with P<0.001). By day 28, the amount of inflammation in the nonoperated eyes returned to preoperative levels. CONCLUSIONS: Subclinical inflammation occurs in the non-operated eye following phacoemulsification and trabeculectomy. The etiology of this finding has yet to be elucidated.

Lyme disease associated with unilateral interstitial keratitis.

PURPOSE: To report a case of Lyme disease that presented with a single nummular unilateral interstitial keratitis. METHODS: Case report and review of the literature. RESULTS: A 57-year-old black man who had contact with freshly killed deer had a chief complaint of foreign-body sensation in his right eye (OD) that had been diagnosed and treated for herpes simplex stromal keratitis. The patient underwent a systemic workup for interstitial keratitis. All results including RPR and MHA-TP were negative except for Lyme antibody titer (enzyme-linked immunosorbent assay [ELISA]) 178 U/ml (normal, <159 U/ml). CONCLUSION: Interstitial keratitis from Lyme disease has been regarded as a bilateral disease in the literature. We present this infrequent ocular manifestation of Lyme disease as a rare single nummular unilateral presentation.

A randomized double-masked trial comparing ketorolac tromethamine 0.5%, diclofenac sodium 0.1%, and prednisolone acetate 1% in reducing post-phacoemulsification flare and cells.

BACKGROUND AND OBJECTIVE: To compare the efficacy of ketorolac tromethamine 0.5%, diclofenac sodium 0.1%, and prednisolone acetate 1% in reducing flare and cells following cataract surgery. PATIENTS AND METHODS: Fifty-eight patients undergoing phacoemulsification with posterior chamber intraocular lens implantation were randomly selected to receive either ketorolac tromethamine 0.5%, diclofenac sodium 0.1%, or prednisolone acetate 1% following surgery. The treatment regimen was 1 drop 4 times a day for 1 week, then twice a day for the next 3 weeks. Flare, cells, and intraocular pressures (IOPs) were measured preoperatively and on postoperative days 1, 7, and 28. RESULTS: No statistically significant differences in either actual flare or cell counts or in change in flare or cell counts from baseline were detected among the three groups. No statistically significant differences in IOP or in change of IOP from preoperative measurements were detected. No medication-related complications were noted at any time. CONCLUSION: Ketorolac tromethamine 0.5% and diclofenac sodium 0.1% may be as effective and as safe as prednisolone acetate 1% in controlling inflammation following cataract extraction.

Reproducibility of the laser flare meter and laser cell counter in assessing anterior chamber inflammation following cataract surgery.

BACKGROUND AND OBJECTIVES: To determine the interobserver and intraobserver reproducibility of the laser flare meter and laser cell counter in assessing anterior chamber inflammation following cataract surgery. PATIENTS AND METHODS: Thirty-nine eyes with varied degrees of inflammation and 9 normal eyes were included in the study. Anterior chamber flare and cells were evaluated with the slit lamp and graded on a scale of 0 to 4+. The flare and cells were then measured three times each using the flare meter and cell counter by two different, experienced observers. The intraobserver reproducibilities were computed to evaluate repeatability of the instruments operated by the same observer. The first measurement taken by each observer was used to assess reproducibility between the two observers. RESULTS: The intraobserver reproducibility for overall flare was 0.995 for both observers. The intraobserver reproducibility for overall cells was 0.996 for observer 1 and 0.991 for observer 2. The overall interobserver reproducibility was 0.994 for flare and 0.988 for cells. The correlation between measurements and slit-lamp ratings was 0.78 for flare and 0.56 for cells. CONCLUSIONS: The intraobserver and interobserver reproducibilities were excellent, with good correlation to slit-lamp measurements. Reproducible results can be obtained using the laser flare meter and the laser cell counter. It is not known whether these results are applicable to other inflammatory processes with higher grades of flare and cells and with different protein and cell types.

Bilateral malignant melanoma of the choroid in the United States.

We examined a 73-year-old woman with bilateral malignant melanoma of the choroid associated with multiple nonocular malignancies. Fine-needle aspiration biopsy was performed in the left eye to provide a tissue diagnosis. Cytologic examination of the lesion in the left eye confirmed the diagnosis of primary malignant choroidal melanoma. This case demonstrates that bilateral malignant melanoma of the choroid occurs more frequently than expected, and may be associated with nonocular malignancies.

Chloroquine and hydroxychloroquine retinopathy: how to follow affected patients.

The retinopathy caused by antimalarials is well known. The differences between antimalarials and daily and cumulative doses are important factors in predicting the development of retinopathy. None of the commonly used tests alone are satisfactory for detecting early retinal changes. We recommend baseline color fundus photographs and automated central visual fields to follow these patients every nine to 12 months. Between these examinations, Amsler grid testing is adequate for screening for early defects.

Visual outcome in pseudophakic eyes with clinical cystoid macular edema.

Thirty-nine eyes with clinical cystoid macular edema (CME) following extracapsular cataract extraction and intraocular lens (IOL) implantation were reviewed retrospectively. Chronic CME, defined as clinically symptomatic CME persisting more than 6 months, developed in 14 of the 39 eyes (36%): in 5 of the 7 (71%) eyes in which vitreous loss occurred and anterior chamber IOLs were implanted; and in 9 of 32 (28%) eyes in which no complications occurred and posterior chamber IOLs were implanted. The mean duration between diagnosis and last follow-up visit was 34 months. Only 4 of the 14 eyes (29%) with chronic CME achieved a visual acuity better than 20/40. Vitreous loss did not affect long-term visual prognosis.

Posterior chamber intraocular lens implantation in eyes with inactive and active proliferative diabetic retinopathy.

We reviewed the records of 2,100 consecutive eyes that had undergone extracapsular cataract extraction with intraocular lens implantation between January 1981 and December 1989. Of these eyes, 21 had inactive and four had active proliferative diabetic retinopathy at the time of cataract extraction. Twenty-one eyes with inactive proliferative diabetic retinopathy received extracapsular cataract extraction with posterior chamber intraocular lens implantation, and four eyes with active proliferative diabetic retinopathy had both extracapsular cataract extraction with posterior chamber intraocular lens implantation and pars plana vitrectomy with endophotocoagulation. The mean follow-up period was 27 months. Final visual acuity was 20/40 or better in 12 of 25 eyes (48%). Of 25 eyes, five (20%) showed progression of the retinopathy after the operation, and two (8%) developed macular edema. Extracapsular cataract extraction and posterior chamber intraocular lens implantation was well tolerated in most eyes.

Extracapsular cataract extraction with intraocular lens implantation after scleral buckling surgery.

We reviewed the records of 28 patients who had undergone successful scleral buckling surgery followed by extracapsular cataract extraction with implantation of an intraocular lens. Posterior chamber intraocular lenses were inserted in 27 eyes, and anterior chamber intraocular lenses were inserted in two eyes with posterior capsule rupture at the time of surgery. The mean follow-up period was 44 months. Final visual acuity was 20/40 or better in 15 of 29 eyes (52%). One eye (3.4%) developed a recurrent retinal detachment 15 months after cataract surgery. Two eyes (6.9%) developed angiographically proven cystoid macular edema. The outcome for extracapsular cataract extraction with intraocular lens implantation in eyes that had previously undergone successful scleral buckling for retinal detachment is favorable.

Effects of carbachol and acetylcholine on intraocular pressure after cataract extraction.

We compared the effect of carbachol and acetylcholine on intraocular pressure 24 hours after extracapsular cataract extraction. All agents were administered intracamerally at the time of surgery. Sixty patients scheduled for routine extracapsular cataract extraction and intraocular lens implantation were randomly assigned into one of three treatment groups: (1) carbachol, (2) acetylcholine, or (3) 0.5% balanced salt solution (placebo). Baseline intraocular pressures were determined the day before surgery, and postoperative pressures were measured approximately 24 hours after surgery. The group intraocular pressures averaged over preoperative and postoperative values were 21.06 mm Hg in the acetylcholine group, 19.36 mm Hg in the control group, and 17.30 mm Hg in the carbachol group. The average difference between preoperative and postoperative intraocular pressure measurements for the three groups were 7.33 mm Hg for the acetylcholine group, 8.73 mm Hg for the control group, and 2.20 mm Hg for the carbachol group. Only carbachol was significantly different from placebo on statistical subsequent testing. Carbachol is suggested as the agent of choice both for achieving intrasurgical miosis and prophylaxis of increasing intraocular pressure after cataract surgery.