Identifying undiagnosed or undertreated patients with familial hypercholesterolemia from the laboratory records of a tertiary medical center.

OBJECTIVE: Familial hypercholesterolemia (FH) is a life-threatening genetic disease associated with elevated low-density lipoprotein cholesterol (LDL-C) and premature coronary heart disease that is undiagnosed and undertreated around the world. This study aimed to examine the demographic characteristics, awareness, and treatment adherence of undiagnosed or undertreated FH patients based on laboratory records. METHODS: In a 16-month retrospective survey using laboratory records, patients with elevated LDL-C (>250 mg/dL) were identified (n=395). Patients younger than 18 years of age or with secondary causes of dyslipidemia were excluded (n=98). In all, 297 patients were called and asked to participate in a phone interview regarding their demographic characteristics, awareness of dyslipidemia, and treatment adherence. RESULTS: A total of 147 patients (mean age: 51.7±16.6 years; 59.2% female) completed the interview. The mean LDL-C level of the patients was 292.8±49.9 mg/dL. According to the Dutch Lipid Clinic Network criteria, 18.4% of the patients had definite FH, 66.0% had probable FH, and 15.6% had possible FH. Although the majority of the patients (93.9%) were aware of their high LDL-C level, only about half of them (n=75; 51.0%) were in treatment. Of all the patients who were interviewed, 21% (n=31) had never taken medication to lower their LDL-C, and 28% (n=41) had stopped taking a lipid-lowering drug. CONCLUSION: This pilot study revealed that a significant number of FH patients were not taking statins despite having a very high LDL-C level. Nationwide detection of likely FH patients using hospital records and interviewing them via a phone survey may help to better understand and manage these high-risk patients.

The effect and safety of intravitreal injection of ranibizumab and bevacizumab on the corneal endothelium in the treatment of diabetic macular edema.

OBJECTIVE: To investigate the effect and safety of intravitreal injection (IVI) of bevacizumab and ranibizumab on corneal endothelial cell count and morphology in patients with diabetic macular edema. MATERIALS AND METHODS: A total of 60 eyes from 60 consecutive patients who received 0.5 mg/0.05 ml IVIs of bevacizumab (n = 30, IVB group) or 1.25 mg/0.05 ml ranibizumab (n = 30, IVR group) for three consecutive months were investigated prospectively. Specular microscopy was performed to evaluate endothelial cell count, the percentage of hexagonal cells (pleomorphism), and the coefficient of variation of the cell size (polymegathism); optical biometry was performed to evaluate central corneal thickness. Results before injection and 1 month after the first and third injections were compared. RESULTS: The groups were matched for age (p = 0.11) and gender (p = 0.32). There was no significant difference in endothelial cell count (IVB group, p = 0.66; IVR group, p = 0.74), pleomorphism (IVB group, p = 0.44; IVR group, p = 0.88) and polymegathism (IVB group, p = 0.21; IVR group, p = 0.24) before injection or 1 month after the first and third injections. There was also no difference in central corneal thickness (IVB group, p = 0.15; IVR group, p = 0.58) before injection or 1 month after the first and third injections. CONCLUSION: Monthly 1.25 mg/0.05 ml IVIs of bevacizumab or 0.5 mg/0.05 ml of ranibizumab for three consecutive months in the treatment of diabetic macular edema does not affect corneal morphology and has no harmful effects on the endothelium.

Disc-damage Likelihood Scale (DDLS) as a Clinical Indicator of the Presence of a Relative Afferent Pupillary Defect (RAPD).

PURPOSE: To evaluate clinical parameters and their relationship to the presence of a relative afferent pupillary defect (RAPD). MATERIALS AND METHODS: Retrospective chart review of 672 consecutive patients who presented to the Glaucoma Service at Wills Eye Hospital from January 1 through May 29, 2012. Swinging flashlight method (SFM) was used to test for RAPDs. Records of visual acuity, intraocular pressure (IOP), disc-damage likelihood scale (DDLS), cup/disc (C/D) ratio, visual field mean deviation (MD), optical coherence tomography (OCT), and Heidelberg retinal tomography (HRT) asymmetries were examined. We measured the prevalence of RAPDs as clinical asymmetries increase, calculated cut-off points for clinical asymmetries that optimized sensitivity and specificity in detecting RAPDs, and determined values of clinical asymmetries above which a RAPD always exists. RESULTS: Upon exclusion, we studied 409 patients, 175 (42.8%) with RAPDs and 234 (57.2%) without. Age, visual acuity, IOP, DDLS, C/D ratio, MD, retina nerve fiber layer thickness by OCT, HRT C/D, and HRT rim area asymmetries all correlated with RAPD status (OCT and HRT parameters did not include enough patients for multivariable analysis or cut-off determination). Multivariable analysis indicated that IOP, DDLS, and MD asymmetries were significantly correlated with RAPD status (P-value<0.05). Although the optimal cut-off values for the variables retained in the final multivariable model had low sensitivity and moderate specificity, DDLS had the highest specificity of 0.86. CONCLUSIONS: IOP, DDLS, and MD asymmetries had the best correlation with RAPD status, and increased asymmetries in these parameters were associated with higher likelihood of RAPDs. DDLS score had the highest specificity in predicting a RAPD, and DDLS asymmetry scores ≥6 identified all cases of RAPDs.

Comparison of 3 different releasable suture techniques in trabeculectomy.

PURPOSE: The use of releasable sutures provides an effective and simple way of titrating intraocular pressure (IOP) postoperatively. The purpose of this study was to compare the surgical outcome of 3 releasable suture techniques for closing scleral flaps in patients undergoing primary trabeculectomy. METHODS: The Wills Eye Glaucoma Research Center retrospectively reviewed the charts of patients who underwent primary trabeculectomy by 3 surgeons using 3 different releasable suture techniques. Ninety eyes of 90 glaucoma patients were divided into 3 groups by releasable suture technique (n = 30 eyes for each group). Main outcome measures included best-corrected visual acuity (BCVA), intraocular pressure (IOP), rate of surgical success, use of supplemental medical therapy, need for additional glaucoma surgery, and complications during suture removal. RESULTS: The BCVA and IOP were similar among the groups for all follow-up visits. As a determinant of success rate of trabeculectomy, mean decrease of IOP after surgery was over 30% in all groups (p = 0.43). The number of postoperative antiglaucomatous medications, number of complications, and need for an additional glaucoma surgery were similar in all groups (p = 0.40, p = 0.87, and p = 0.47, respectively). The differences in suture-related complications, defined as suture break or need for laser suture lysis, were not significant among the groups (p = 0.09). CONCLUSIONS: We found that the 3 most common surgical techniques had similar mechanisms of action. All techniques were safe and effective, yielding similar outcomes. All 3 techniques can be used for closing scleral flaps in patients undergoing primary trabeculectomy.

Bilateral Papillophlebitis in a Patient with Mutation of Metilenetetrahydrofolate Reductase Enzyme.

Papillophlebitis is known as central retinal vein occlusion seen in young patients. It usually presents as unilateral optic disc edema with cotton wool spots and hemorrhage in the peripapillary region. As it may be due to many autoimmune and inflammatory causes, a thorough systemic evaluation of the patient is warranted. In this case report we describe a bilateral, simultaneous papillophlebitis case thought to be related to hyperhomocysteinemia secondary to C677T polymorphism of methylenetetrahyrofolate reductase enzyme.

Characteristics of the Anterior Segment Biometry and Corneal Endothelium in Eyes with Pseudoexfoliation Syndrome and Senile Cataract.

OBJECTIVES: To evaluate the anterior segment biometric features and corneal endothelial changes in eyes with pseudoexfoliation (PEX) syndrome and senile cataract. MATERIALS AND METHODS: The central corneal thickness, anterior chamber depth (ACD), pupil diameter, lens thickness, endothelial cell density (ECD), and percentages of polymegathism and pleomorphism of 52 subjects with PEX and cataract were compared with 51 age- and gender-matched control subjects with cataract using optical low-coherence reflectometry (OLCR, Lenstar LS 900; Haag Streit AG, Switzerland) and in-vivo confocal microscopy (Confo Scan 4, Nidek Co. Ltd, Osaka, Japan). Nineteen subjects with PEX syndrome had glaucoma and were using anti-glaucoma medications. Only one eye of the subjects was used in statistical analysis and a p value less than 0.05 was considered statistically significant. RESULTS: None of the OLCR parameters reached statistically significant differences among the 3 groups (ANOVA p>0.05). The percentage of eyes with ACD <2.5 mm was 13.7% in the control group, 24.2% in PEX eyes without glaucoma and 21.1% in PEX eyes with glaucoma, with no statistically significant differences (p=0.45). There was a significant difference in mean ECD among the 3 groups (ANOVA p=0.02), whereas no differences could be found in respect to polymegathism and pleomorphism (p>0.05). Mean ECD was significantly lower in the PEX glaucoma group (2,199.5±176.8 cells/mm2) than the control group (2,363±229.3 cells/mm2) (p=0.02), whereas no difference was found in mean ECD of PEX eyes without glaucoma and the control group (p=0.42). ECD was less than 2,000 cells/mm2 in 15.8% of PEX subjects with glaucoma, 9.8% of control subjects and 6.1% of PEX eyes without glaucoma, with no statistically significant difference (p=0.52). CONCLUSION: As eyes with both PEX glaucoma and cataract seem to be associated with decreased endothelial cell number, specular or confocal microscopy screening should be done for the patients scheduled for intraocular surgery.

Structural and Functional Assessment in Patients Treated with Systemic Isotretinoin Using Optical Coherence Tomography and Frequency-Doubling Technology Perimetry.

A causal association between central nervous system neuropathy and oral isotretinoin has been reported. In this study we aimed to assess retinal nerve fibre layer (RNFL) thickness and visual field changes in patients treated with systemic isotretinoin. Thirty-nine patients treated with 1 mg/kg daily oral isotretinoin were enrolled in this prospective clinical trial. All patients underwent complete ophthalmologic assessment before treatment, on day 60, and 3 months after completion of treatment. RNFL thickness measurements were performed with Stratus optical coherence tomography. Functional testing included frequency-doubling technology perimetry and Humphrey field analyser. Main outcome measures were average RNFL thicknesses and visual field indices (mean deviation, pattern standard deviation). Measurements of RNFL thickness showed no statistically significant change between the three measurements (p = 0.180). No statistically significant differences were observed in the frequency-doubling technology indices (mean deviation and pattern standard deviation, p = 0.066 and p = 0.103, respectively) and in the Humphrey field analyser indices (mean deviation and pattern standard deviation, p = 0.091 and p = 0.087, respectively) at day 60 of treatment or 3 months after the cessation of treatment. In this study of 39 patients, systemic use of isotretinoin (1 mg/kg daily) does not cause a statistically significant change in peripapillary RNFL thickness or visual field findings within the usage period, and within 3 months after cessation.

The effect of pupil dilation on biometric parameters of the Lenstar 900.

PURPOSE: To evaluate the effect of pupil dilation on the biometric parameters of the Lenstar LS 900 (Haag Streit AG, Koeniz, Switzerland). METHODS: In this cross-sectional study of 33 eyes with cataracts, axial length (AL), anterior chamber depth, intraocular lens (IOL) power, keratometry, and pupil diameter measurements were performed using Lenstar biometry before and after pupil dilatation. Intraobserver repeatability was assessed by taking 2 consecutive recordings of biometric parameters using Lenstar biometry in the undilated pupils of 30 eyes with cataracts. RESULTS: The mean difference in AL measurements from intraobserver readings was -0.001 ± 0.01 mm. The study group showed a statistically significant change in the first keratometry reading and anterior chamber depth values (P < 0.05); however, the mean difference in AL and IOL power was statistically insignificant between the undilated and dilated pupil Lenstar biometry readings. Three cases in the study group (9.1%) and 1 case in the control group (3.3%) demonstrated changes in IOL power >0.50 diopter. CONCLUSIONS: Dilated and undilated pupil size did not affect the measurement of IOL using the Lenstar biometry.

Giant ethmoido-orbital osteoma presenting with dacryocystitis and metamorphopsia.

Osteoma is the most common benign neoplasm of the paranasal sinuses. Intraorbital extension is rare. Here we report a 16-year-old adolescent boy who presented with epiphora and pain in the medial canthal area. A computed tomographic scan revealed a bone density mass in the left ethmoid cavity extending into the adjacent orbit. The tumor was removed via endoscopic endonasal surgery. The pathologic evaluation was consistent with osteoma. After surgery, all complaints have been resolved and there was not any sign of recurrence in the computed tomographic scan.