Hermansky Pudlak syndrome: an unusual form of procto-colitis

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder consisting of oculocutaneous albinism, platelet dysfunction and systemic complications associated with lipofuscin deposition in the reticuloendothelial system. HPS has been associated with a granulomatous enterocolitis with pathologic features suggestive of Crohn's disease. It remains uncertain if HPS represents a truly distinct form of granulomatous enterocolitis. We report a series of two patients with HPS treated in Puerto Rico, and the results from medical and surgical intervention for gastrointestinal disease. Our experience with HPS patients has shown the difficult management of perineal disease similar in the management of Crohn's. However, complications from the bleeding diathesis necessitate caution during surgery and potential anesthesia complications. Furthermore, avoidance of a perineal wound is preferred, and when possible, ileostomies have fewer complications than colostomies as they do not involve the small bowel.

Central corneal thickness and intraocular pressure in Puerto Rican glaucoma patients

OBJECTIVE: To compare the variations in central corneal thickness and intraocular pressure measurements according to race, gender, and age. METHODS: A non-concurrent prospective study of 372 (744 eyes) glaucoma patients was conducted. Central corneal thickness was measured with ultrasound pachymeter and intraocular pressure with Goldmann tonometer. The relationship between CCT, race, gender, and age was evaluated using both descriptive and statistical analysis. RESULTS: The population age was 64 +/- 19.52 years. The mean central corneal thickness was 546 +/- 43.84 microm. The mean corrected intraocular pressure was 17 +/- 5.26 mm Hg. Central corneal thickness of male patients (549 +/- 43.43 pm) was thicker than that of female patients (546 +/- 41.83 microm). The mean corrected intraocular pressure in male patients (16 +/- 5.41 mm Hg) was less than that of female patients (17 +/- 5.18 mm Hg). The mean central corneal thickness in patients 0 to 9 years-of-age was 548 +/- 36.08 microm; 10 to 19 years-of-age was 606 +/- 82.30 microm; 20 to 29 years-of-age was 564 +/- 29.23 microm; 30 to 39 years-of-age was 579 +/- 15.32 microm; 40 to 49 years-of-age was 546 +/- 48.29 microm; 50 to 59 years-of-age was 550 +/- 38.12 mirom; 60 to 69 years-of-age was 545 +/- 40.22 microm; 70 to 79 years-of-age was 541 +/- 34.71 microm; 80 to 89 years-of-age was 541 +/- 34.05 microm; older than 90 years-of-age was 527 +/- 46.90 microm. CONCLUSIONS: Central corneal thickness of glaucoma patients in Puerto Rico was similar to that of Hispanics in the continental United States. However, the intraocular pressure and corrected intraocular pressure of glaucoma patients in Puerto Rico were statistically higher than that of Hispanics with glaucoma in the continental United States. In our study population, central corneal thickness and intraocular pressure were not affected by gender or age.

Factors leading to the computer vision syndrome: an issue at the contemporary workplace

INTRODUCTION: Vision and eye related problems are common among computer users, and have been collectively called the Computer Vision Syndrome (CVS). METHODS: An observational study in order to identify the risk factors leading to the CVS was done. Twenty-eight participants answered a validated questionnaire, and had their workstations examined. The questionnaire evaluated personal, environmental, ergonomic factors, and physiologic response of computer users. The distance from the eye to the computers' monitor (A), the computers' monitor height (B), and visual axis height (C) were measured. The difference between B and C was calculated and labeled as D. Angles of gaze to the computer monitor were calculated using the formula: angle=tan-1(D/A). Angles were divided into two groups: participants with angles of gaze ranging from 0 degree to 13.9 degrees were included in Group 1; and participants gazing at angles larger than 14 degrees were included in Group 2. Statistical analysis of the evaluated variables was made. RESULTS: Computer users in both groups used more tear supplements (as part of the syndrome) than expected. This association was statistically significant (p < 0.10). Participants in Group 1 reported more pain than participants in Group 2. Associations between the CVS and other personal or ergonomic variables were not statistically significant. CONCLUSIONS: Our findings show that the most important factor leading to the syndrome is the angle of gaze at the computer monitor. Pain in computer users is diminished when gazing downwards at angles of 14 degrees or more. The CVS remains an under estimated and poorly understood issue at the workplace. The general public, health professionals, the government, and private industries need to be educated about the CVS.

Retinitis pigmentosa in Puerto Rico

INTRODUCTION: Previous studies have reported that the prevalence of retinitis pigmentosa (RP) varies between one per 3,000 to one in per 5,000 in the general population. PURPOSE: To study the incidence and ocular findings of RP in a sub-urban community in Puerto Rico. METHODS: We conducted a non-concurrent prospective study of 10,100 patients in a sub-urban San Juan community. RESULTS: 44 out of the 10,100 patients had RP (0.44). Eight out of the 44 patients (18) had nystagmus, twenty-eight (31.8) had microcornea, 3 patients (6.8) had sluggish papillary reaction. Six patients (13.6) had mild cataracts, 27 (65.9)had attenuated retinal vessels and thirty five patients (81.4) had bony spicules. Fifteen patients (34.1) out of the 44 had retinitis pigmentosa as part of the Bardet-Biedl syndrome. CONCLUSION: Incidence of RP in Puerto Rico is higher when compared to Maine and Spain (p < 0.001). Autosomal recessive pattern of inheritance is the most common in Puerto Rico. These findings could be due to the island's geographic isolation, and inbreeding.

Eye diseases in Puerto Rico

OBJECTIVE: To report on the major causes of eye diseases leading to visual impairment and blindness in a sub-urban population in Puerto Rico. DESIGN: A population-based study of eye diseases in Puerto Ricans living in the San Juan metropolitan area of Puerto Rico. PARTICIPANTS: Nine thousand two hundred ninety-eight patients aged from 40 to 79 years-of-age from the San Juan metropolitan area. METHODS: A chart review of 9,298 patients was done. Patients carrying diagnosis such as cataracts, glaucoma, age-related macular degeneration (ARMD), and diabetic retinopathy were evaluated. Descriptive statistics and chi square analysis were used to evaluate findings. RESULTS: 2,056 patients out of 9,298 had cataracts (22.1); 3,963 patients (42.6) had glaucoma; 199 patients had ARMD (2.1); and 700 patients (7.5) had diabetic retinopathy. The prevalence of cataracts was higher in the population study than in the Hispanic population of the Los Angeles Latino Eye Study (LALES) (p<0.001). The prevalence of glaucoma was higher in our patients than in Hispanic population studied by the LALES (p<0.0001). The prevalence of ARMD and the prevalence of diabetic retinopathy was lower than expected when compared to Hispanic population of LALES study (p<0.0001 in both instances). CONCLUSIONS: In this population-based study, the prevalence of cataracts and glaucoma was higher than the results found in the Hispanic populations reported in the LALES. However, in our study, we found a lower prevalence of ARMD and diabetic retinopathy. Various factors may lead to this significant difference in the prevalence of eye diseases between the PR population and Hispanic population in the continental USA. Further studies are needed to evaluate the prevalence of eye diseases in Puerto Rico.

Color vision in patients with the Hermansky-Pudlak syndrome

PURPOSE: To study color vision in patients with oculocutaneous albinism (OCA) METHODS: We evaluated color vision in 42 patients with OCA using the HRR color plates. Sixty seven percent of the patients had the Hermansky-Pudlak syndrome (HPS), diagnosed genetically or clinically. The remaining patients had unknown mutations leading to OCA. RESULTS: 47.6 of patients of OCA of all types included had a color vision defect. Of these, 55 were female and 45 were male patients. 50 of patients with the HPS (all types) had a color vision deficit. 42.9 of patients with OCA of unknown type had color weakness. 57.1 had normal color vision. CONCLUSIONS: Results suggest that many patients with OCA and the HPS have a mild red-green color perception deficiency that is not a sex linked trait. The prevalence of color vision deficits in our study population increased with decreasing visual acuity

Adverse drugs reactions associated with glaucoma medications

We undertook a non-concurrent prospective study of 191 Puerto Rican patients from August 1993 to April 1994. All patients had open angle glaucoma (OAG) (age ranged from 50 to 80 yrs; mean = 65 yrs). Patient's symptomatology associated to side effects of their glaucoma medicadons was reviewed. Incidence percent of ocular and/or systemic side effects per medication were: levobunolol 45.0; betaxolol 42.0; timolol 27.3; pilocarpine 100; dipivefrin 14.0; and acetazolamide 250 mg 64.1. Incidence percent of ocular and/or systemic side effects of topical beta-blockers used with concomittant medications were determined. Ocular side effects were more frequent in patients using levobunolol 44.2 than in those patients using betaxolol 42.0, 8.5 of patients using levobunolol did report systemic side effects. No systemic side effects were reported by patients using betaxolol. Ocular side effects in patients using pilocarpine were frequent (100); whereas the frequency of systemic side effects was low (6.1). Systemic side effects were common in patients using carbonic anhydrase inhibitors. These results suggest that non-selective and cardio-selective topical Beta-blockers, differ in their ocular or systemic side effects