According to classical mendelism, recessive traits affect one quarter of the offspring of apparently unaffected carrier parents. In genetic terms recessive traits appear only when both alleles of a genetic pair carry the mutant gene. That is, the individual must be homozygous for the defect in question. The presence of one normal gene in a pair, the heterozygous condition, suffices to repress manifestation of the defect. That this general formulation is not entirely true has become increasingly evident in the past few years, and much current research is directed toward the very practical problem of detecting the carrier or heterozygous individuals. In a few instances the heterozygotes present a disease process that is simply a mild form of that of the homozygotes. Thus the abnormality of red blood cells in sickle cell disease does not become manifest in the heterozygote until adult life and then causes relatively benign disturbances such
Universities struggle with alternate means of instructional delivery to meet the demands of distant student needs, the competition for enrollments, and restraints from limited physical building space. For many, fully online programs of study using internet-based instruction commonly named online instruction have become viable solutions. There has been significant growth in the number of on-line degree programs since many students want to take courses that will positively impact their future careers but not hinder family and work responsibilities. Shifting from a traditional program of study to an online format is not without challenges. There are three primary areas of focus when considering an online design format for course delivery: course design, instructor role, and student role. This paper will provide one instructor’s perspective of how to improve student engagement and interaction in master’s level Educational Leadership courses over a threeyear span utilizing available data from the university Student Perception of Teacher (SPOT) assessment available.
OBJECTIVETo determine the efficacy of an automated, interactive, telephone-based health communication intervention for improving glaucoma treatment adherence among patients in 2 hospital-based eye clinics.METHODA total of 312 patients with glaucoma (18-80 years of age) were enrolled in a randomized controlled trial at 2 eye clinics located in hospitals in the southeastern United States. These patients were considered nonadherent because they did not take their medication, refill their medication, and/or keep their appointments. The treatment group received an automated, interactive, tailored, telephone-based health communication intervention and tailored print materials. The control group received usual care.MAIN OUTCOME MEASURESAdherence with medication taking, prescription refills, and appointment keeping measured by interviews, medical charts, appointment records, and pharmacy data.RESULTSA statistically significant increase was found for all adherence measures in both the intervention and control groups. Interactive telephone calls and tailored print materials did not significantly improve adherence measures compared with controls.CONCLUSIONSDuring the study period, patient adherence to glaucoma treatment and appointment keeping improved in both study arms. Participation in the study and interviews may have contributed. Strategies that address individuals' barriers and facilitators may increase the impact of telephone calls, especially for appointment keeping and prescription refills.APPLICATION TO CLINICAL PRACTICEGlaucoma patient care should include reminders about consistent use of medication and the importance of keeping appointments. More frequent, and personalized, telephone contact may be helpful to patients who are known to be nonadherent.TRIAL REGISTRATIONclinicaltrials.gov Identifier:NCT00794170.
OBJECTIVETo compare soft tissue and fat volumes in the supraorbital area of healthy patients and patients with thyroid-associated orbitopathy (TAO) using 3-dimensional reconstruction software.METHODSThe superiolateral orbital area was delineated on a bony framework. Three-dimensional reconstruction and volumetric calculation of the retro-orbicularis oculi fat (brow fat), galeal fat (including the retro-orbicularis oculi fat), and soft-tissue muscle were performed.RESULTSWe analyzed 100 computed tomographic scans from 48 patients with TAO and 52 control subjects. All patients showed an age-related increase of fat volumes. The mean total eyebrow volume was greater in patients with TAO vs healthy control subjects (P < .001). Galeal fat (P = .02) and retro-orbicularis oculi fat (P = .01) volumes were significantly higher in patients with TAO vs control subjects. Soft-tissue muscle volume decreased with age in healthy females but remained constant in the aging female group with TAO. Both total volume and brow thickness did not appear to change with age in healthy patients but exhibited an increase in the female population with TAO.CONCLUSIONSThis study brings into focus the clinicopathologic entity of thyroid-associated periorbitopathy. Three-dimensional evaluation of computed tomographic scans can provide information on volumetric changes in the eyebrow profile of patients with TAO. Further investigation of the biologic and morphologic changes of eyebrow fat and soft tissue in patients with TAO may help better characterize, classify, and guide their treatment.
OBJECTIVE To compare Early Treatment Diabetic Retinopathy Study visual acuity outcome with retinal structural outcome at the 6-year follow-up examination of infants randomized in the Early Treatment for Retinopathy of Prematurity study. METHODS We compared the results in 606 eyes of subjects in whom both functional (visual acuity) and retinal structural assessments were obtained at age 6 years. Visual acuity assessments were performed by masked testers, and retinal examinations were performed by certified ophthalmologists. MAIN OUTCOME MEASURES Visual acuity and retinal structure at age 6 years. RESULTS Concordant outcomes occurred in 462 eyes (76.2%): 402 eyes had favorable functional and structural outcomes and 60 eyes had unfavorable functional and structural outcomes. Discordant outcomes occurred in 92 eyes (15.2%): 86 eyes had unfavorable functional and favorable structural outcomes and 6 eyes had favorable functional and unfavorable structural outcomes. Of the 86 eyes with unfavorable functional and favorable structural outcomes, 43 had optic atrophy (23 eyes) and/or retinal abnormalities that were less severe than those considered to be unfavorable (32 eyes). In 52 eyes (8.6%), retinal structure could not be assessed or the visual acuity was untestable. CONCLUSION Posterior pole appearance correlates well with visual acuity in 6-year-old infants with a history of advanced retinopathy of prematurity. APPLICATION TO CLINICAL PRACTICE When the retinal structure is normal but visual acuity is poor in infants with a history of severe retinopathy of prematurity, other diagnoses such as optic atrophy and cortical visual impairment could at least partially account for the discrepancy. TRIAL REGISTRATION clinicaltrials.gov Identifier: NCT00027222.
A case of perforating ocular injury with a retrobulbar foreign body and a large full-thickness posterior pole defect near the optic disc was scheduled for vitrectomy after primary corneal suturing. Because it was difficult to remove the retrobulbar foreign body by orbitotomy and perform the outside suture, the retrobulbar foreign body was removed through the posterior hole by a transocular approach, and an autologous Tenon capsule flap was used to internally patch the large full-thickness posterior pole defect, thus enabling silicon tamponade. After 3 months of follow-up, there was no immune response around the patch. The retina remained mostly attached with a maintained peripheral visual field, normal intraocular pressure, and good cosmetic appearance. This surgical technique may be valuable in patients with a perforating retrobulbar foreign body and a large full-thickness posterior pole defect.
Comment. In this case, the excimer laser was used in a novel fashion to ablate central corneal tissue where dye had migrated from the previous tattooing procedure 27 years earlier. This procedure allowed for the creation of a precisely circular central clear corneal “pupil,” enhancing both cosmesis and light passage to maximize the patient’s residual vision. We believe that this method offers a simple and effective technique to clear the areas of aberrant dye that is known to migrate over time following corneal tattooing.
1. Yannuzzi LA. Central serous chorioretinopathy. In: Yannuzzi LA, ed. Laser Photocoagulation of the Macula. Philadelphia, PA: JB Lippincott Co; 1989:4. 2. Imamura Y, Fujiwara T, Margolis R, Spaide RF. Enhanced depth imaging optical coherence tomography of the choroid in central serous chorioretinopathy. Retina. 2009;29(10):1469-1473. 3. Fujiwara T, Imamura Y, Margolis R, Slakter JS, Spaide RF. Enhanced depth imaging optical coherence tomography of the choroid in highly myopic eyes. Am J Ophthalmol. 2009;148(3):445-450. 4. Margolis R, Spaide RF. A pilot study of enhanced depth imaging optical coherence tomography of the choroid in normal eyes. Am J Ophthalmol. 2009; 147(5):811-815.
AMD and this variant in other ethnic groups, and thus the possibility for systemic errors in other groups, remains largely unexplored. As our results highlight, predictive genetic testing for complex diseases faces many challenges. Until we fully understand how a particular genetic variant acts on disease susceptibility, great care must be taken when translating genetic tests from one race-ethnicity to another.
OBJECTIVESTo present and evaluate a new combined index of structure and function (CSFI) for staging and detecting glaucomatous damage.METHODSObservational study including 333 glaucomatous eyes (295 with perimetric glaucoma and 38 with preperimetric glaucoma) and 330 eyes of healthy subjects.All the eyes were tested with standard automated perimetry and spectral domain optical coherence tomography within 6 months. Estimates of the number of retinal ganglion cells (RGCs) were obtained from standard automated perimetry and spectral domain optical coherence tomography and a weighted averaging scheme was used to obtain a final estimate of the number of RGCs for each eye. The CSFI was calculated as the percent loss of RGCs obtained by subtracting estimated from expected RGC numbers. The performance of the CSFI for discriminating glaucoma from normal eyes and the different stages of disease was evaluated by receiver operating characteristic curves.RESULTSThe mean CSFI, representing the mean estimated percent loss of RGCs, was 41% and 17% in theperimetric and preperimetric groups, respectively(P.001). They were both significantly higher than the mean CSFI in the healthy group (P.001). The CSFI had larger receiver operating characteristic curve areas than isolated indexes of structure and function for detecting perimetric and preperimetric glaucoma and differentiating among early, moderate, and advanced stages of visual field loss.CONCLUSIONAn index combining structure and function performed better than isolated structural and functional measures for detection of perimetric and preperimetric glaucoma as well as for discriminating different stages of the disease.
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during pregnancy may be simply coincidence. This has been postulated for cutaneous melanoma, although most studies suggest a genuine increased risk. The 2 main postulated theories for this increased risk are hormonal factors and decreased immunity. Several investigators have examined the role of sex hormone receptor status in conjunctival melanoma, PAM, and nevi. Chowers et al investigated 2 cases of conjunctival melanoma and 13 cases of PAM and were unable to detect estrogen receptors in any. Paridaens et al found that 6 of 15 conjunctival melanomas were estrogen receptor positive. More recently, Pache et al found expression of progesterone receptors in 96% of cases, consisting of 69 nevi, 5 cases of PAM, and 2 melanomas. Staining for estrogen and progesterone receptors was negative in this patient. Changes in immunity that accompany pregnancy may also play an important role. To protect the fetus from rejection, pregnancy induces immunosuppression with a predominant T-helper 2 response to inciting stimuli. Indeed, the severity of many diseases has been shown to be affected by pregnancy. This anti-inflammatory response may also affect tumor surveillance and promote tumor growth. This reduction in immune surveillance has been suggested by Paridaens et al, who described a young woman with growth of conjunctival melanosis and melanoma during the course of 3 pregnancies. An additional feature of concern in this patient was that the PAM was nonpigmented in some areas. While PAM sine pigmento is well recognized, often in conjunction with pigmented areas, it can be difficult to follow up. In conclusion, while this link with pregnancy and conjunctivalmelanomaprogressioncannotbe fullyexplained, itwouldbeprudent foryoungwomenwithPAMwithatypia to be closely monitored during reproductive life.
Novel Manifestation and TreatmentS inus histiocytosis with massive lymphadenopa- thy (Rosai-Dorfman disease [RDD]) is a benign, idiopathic, self-limiting lymphoproliferative disease, described by Rosai and Dorfman in 1969. 1 Extranodal manifestations represent about 43% of cases. 2 The disease is classically accompanied by fever, malaise, leukocytosis, increased erythrocyte sedimentation rate, and hypergammaglobulinemia. 1 Rosai-Dorfman disease is diagnosed histopathologically, with abundant histiocytes often engulfing lymphocytes and lymphoid cells, known as emperipolesis.The histiocytes are characteristically reactive to CD68 and S-100 proteins. 1 Herein, we discuss the unique case and treatment of a woman who had RDD with bilateral epibulbar lesions concurrent with anterior uveitis.
genetic evaluation in any child with suspected genetically controlled retinal pathology. In the updated classification system for CXLRS inclusive of OCT findings, all 4 subtypes demonstrate foveal cystic schisis. Although this patient has multiple features of CXLRS, his lack of this critical finding places him outside this previously described classification system. It has been observed that children with CXLRS may not have clinical foveal changes at birth, but they usually manifest by age 8 years in our experience. The clinical picture of this case is somewhat of an outlier. This case may represent a fifth type of CXLRS with peripheral schisis and no associated macular lamellar schisis or foveal cystic schisis.
T he history of corneal tattooing dates back to 129 AD, when Galen pioneered it as a technique to conceal leukomata. In modern times, keratoplasty and contact lenses (CLs) have largely replaced corneal tattooing as treatment for leukomata. However, newer techniques have helped corneal tattooing regain its popularity. In addition to concealing corneal opacities and iris defects for cosmesis, corneal tattooing may improve vision by reducing aberrant light that causes glare and light scattering. All methods of tattooing, however, suffer from long-term instability as the result of dye dispersion and fading. This process appears to occur by endocytosis of dye particles into cells and then subsequent migration. Various forms of lamellar dissection of the cornea have been attempted using specialized tools followed by intralamellar dyeing. Unfortunately, they all have difficulty accurately delineating the margin of the tattoo bed, resulting in an irregular tattoo border and irregular distribution of stain. Thus, researchers have been focused on accurately delineating the margin of the tattoo bed. Two studies have used the femtosecond laser to create a lamellar free flap. Kim et al lifted the corneal flap and injected dye into the lamellar stromal bed. Kymionis et al removed the flap and immersed it in dye. In both studies, the flap was then repositioned on the residual corneal bed. Report of a Case. A 45-year-old woman was referred for consideration of corneal tattooing of the left eye in 1983. Her ocular history was significant for a congenitally abnormal left eye with retinal atrophy and an inferior iris coloboma as well as secondary exotropia following surgery for esotropia as a child. She underwent an intracapsular cataract extraction on her left eye 12 years earlier; her left eye was aphakic and had a superior iris sectoral defect (Figure 1A). Baseline best-corrected visual acuity was counting fingers OS. She had been wearing a custom-designed aphakic/ cosmetic soft CL on the left eye for years to improve peripheral vision and minimize exotropia. This CL had built up protein deposits causing CL intolerance, and it was not possible to have a replacement made. Standard tinted CLs had been tried but did not disguise the iris defects to the patient’s satisfaction. For this reason, corneal tattooing of the left eye was performed in 1983 using a No. 75 Beaver blade (BeaverVisitec International) along with brown, gray, green, and white dyes in an attempt to match the color of the right iris while maintaining a central clear zone 4 mm in diameter (Figure 1B and C). Following the procedure, the patient was able to wear tinted CLs with satisfactory cosmetic and functional results. In 2010, the patient was referred back for consideration of revision of the corneal tattoo in the left eye due to slowly worsening cosmetic appearance and dimming of vision during the past 10 years. Examination showed significant lightening of corneal pigment compared with original postoperative photographs as well as migration of tattoo pigment into the central 4-mm clear zone (Figure 2A). Phototherapeutic keratectomy was performed in a 5-mm-diameter central zone to “reopen the pupil” by ablating the pig-
Cytomegalovirus (CMV) retinitis typically presents as a hemorrhagic, full-thickness retinitis in immunosuppressed individuals, often in the setting of HIV infection. The management of CMV retinitis includes systemic and locally administered intravitreal antivirals (i.e. foscarnet or ganciclovir), as well as the surgical intravitreal ganciclovir implant. In chronically immunosuppressed patients (i.e. transplant recipients, cancer chemotherapy) and in HIV/AIDS patients who fail to immune reconstitute, chronic CMV prophylaxis with valganciclovir may lead to ganciclovir- and foscarnet-resistant CMV strains. Moreover, the identification of drug-resistant CMV may influence the choice or dosing of antiviral medication.1–2 Ganciclovir-resistance is classified into genotypic resistance defined as CMV DNA harboring a mutation known to confer antiviral resistance or phenotypic resistance meaning that ganciclovir at a therapeutic dose fails to exceed the concentration required to inhibit 50% of CMV growth on viral culture media. We characterize a series of patients with CMV retinitis who were evaluated for genotypic ganciclovir-resistance using PCR-based analysis of ocular fluids and describe its influence on management.
