Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree.

BACKGROUND: Most patients suffering from Leber hereditary optic neuropathy carry one of the three classic pathologic mutations, but not all individuals with these genetic alterations develop the disease. There are different risk factors that modify the penetrance of these mutations. The remaining patients carry one of a set of very rare genetic variants and, it appears that, some of the risk factors that modify the penetrance of the classical pathologic mutations may also affect the phenotype of these other rare mutations. RESULTS: We describe a large family including 95 maternally related individuals, showing 30 patients with Leber hereditary optic neuropathy. The mutation responsible for the phenotype is a novel transition, m.3734A > G, in the mitochondrial gene encoding the ND1 subunit of respiratory complex I. Molecular-genetic, biochemical and cellular studies corroborate the pathogenicity of this genetic change. CONCLUSIONS: With the study of this family, we confirm that, also for this very rare mutation, sex and age are important factors modifying penetrance. Moreover, this pedigree offers an excellent opportunity to search for other genetic or environmental factors that additionally contribute to modify penetrance.

Changes in Lower Lid Position after Standard Phacoemulsification Cataract Surgery.

PURPOSE: To evaluate the changes on the position of the lower lid after phacoemulsification surgery using objective methods. METHODS: This prospective study evaluated the lower lid position of cataract carriers who underwent to phacoemulsification surgery from January to May 2017. Data were collected on demographics, type of anesthesia, duration of the surgical procedure, and duration of the speculum remained in place. Standardized digital photographs of the patient's face in primary gaze position were obtained preoperatively and 1, 30, 90, and 180 days, postoperatively. The data were analyzed on the distraction test, distance of the lower lacrimal punctum from the inner canthus, and margin reflex distance 2 (MRD2). Comparative and correlation statistical analyses involving preoperative and postoperative measurements were performed. RESULTS: One hundred twelve cataract patients comprised the study sample. There were 68 (60.7%) females with a median age of 74 (interquartile range, 70-81) years old. The mean distraction test value before surgery was 7 ± 2 mm and 6.8 ± 1.8 mm 180 days postoperatively (P = 0.02). The mean lacrimal lower punctum distance changed from 5 ± 1.1 mm preoperatively to 5.4 ± 1 mm at 180 days postoperatively (P = 0.06). The mean MRD2 preoperatively was 5 ± 1 mm and increased to 5.4 ± 0.9 mm 180 days after surgery (P = 0.02). The duration of surgery and the duration that speculum remained in place were not correlated to MRD2 (P = 0.7; P = 0.98). CONCLUSIONS: There is a mild lower lid laxity after phacoemulsification reflected by slight increased lacrimal lower punctum distance to the inner canthus and MRD2. Lacrimal lower punctum distance and MRD2 vary along the study and remained altered at 180 days after surgery, while distraction test tends to recover to similar preoperative levels. Although lid laxity is common in elderly cataract carriers, even a short procedure as phacoemulsification can mildly increase flaccidity.

An Objective Evaluation of the Upper Eyelid Position after Phacoemulsification Cataract Surgery.

Purpose: To objectively measure the upper eyelid position following phacoemulsification cataract surgery and to identify the determinants of postoperative transient ptosis. Methods: This is a single arm prospective study of patients who underwent cataract surgery from January to May 2017 at a tertiary Eye Hospital in Spain. Data comprised of: the type of anesthesia, the duration that the speculum remained in place and the total surgical time (duration of the procedure). The total surgical time was defined as, the time from the beginning of the paracentesis to the closure of the wounds (incision time). Digital photographs were obtained of: the face with the eye in primary gaze, looking inferiorly and superiorly, preoperatively, and 1, 30, 90 and 180 days postoperatively. Measurements for eyelid crease, levator function, and marginal reflex distance 1 (MRD1) were performed using ImageJ. Statistical analysis was performed of the difference between the preoperative and postoperative measurements. Results: The study consisted of 112 patients. The median lid crease was 9.0 mm [IQR (interquartile range) 7.5; 10.0] both preoperatively and at 180 days postoperatively (IQR 8.0; 10.8). No statistical difference was determined in the lid crease measurements between these two times (P = .17). The median levator function differed significantly preoperatively, at day 1 and 30, 60 and 180 days postoperatively (P < .01). MRD1 decreased significantly from a median of 3.01 mm preoperatively to 2.7 mm at 30 days postoperatively (P = .05) but was similar at preoperative and after 180 days (P = .7). The correlation of MRD1 to the duration of the speculum in place (P = .2) and the incision time (P = .57) was not significant. Conclusions: Ptosis, following phacoemulsification cataract surgery, is mild and transient, occurring only in the early postoperative period.

Consistency of corneal sublayer thickness measurements using Fourier-domain optical coherence tomography after phacoemulsification.

PURPOSE: To assess the reliability of corneal epithelial thickness (CET), nonepithelial central corneal thickness (NECCT), and central corneal thickness (CCT) measurements using Cirrus high-definition optical coherence tomography (HD-OCT) in patients who did and did not undergo cataract surgery. METHODS: Forty patients who underwent uneventful phacoemulsification and 40 healthy participants were recruited to evaluate the intraobserver repeatability and interobserver reproducibility of CET, NECCT, and CCT measurements using Cirrus HD-OCT. To analyze repeatability, one examiner obtained 5 consecutive scans in each participant; for interobserver reproducibility, another examiner randomly obtained another scan. Within-subject standard deviation, coefficient of variation (CV), limits of agreement, and intraclass correlation coefficient (ICC) data were obtained. RESULTS: For intraobserver repeatability, the intrasession CV (CVw) and ICC values of the CET in the operated and nonoperated groups were 3.7% and 0.80 and 3.8% and 0.73, respectively; for NECCT, 0.7% and 0.98 and 0.8% and 0.97; and for CCT, 0.6% and 0.99 and 0.7% and 0.98. For interobserver reproducibility, the CVw and ICC values for the CET in the operated and nonoperated groups were 2.6% and 0.82 and 2.3% and 0.62, respectively; for NECCT, 0.7% and 0.98 and 0.5% and 0.98; and for CCT, 0.5% and 0.99 and 0.4% and 0.99. CONCLUSIONS: The corneal sublayer thickness can be measured reliably using Cirrus HD-OCT in patients who underwent cataract surgery and elderly participants; however, the CET consistency is poorer than the NECCT. Corneal epithelial thickness modifications exceeding 4% reflect true thickness changes instead of random error variations using HD-OCT.

Early Changes in Corneal Epithelial Thickness after Cataract Surgery--Pilot Study.

PURPOSE: To assess early variations in central and paracentral corneal epithelial and non-epithelial thicknesses after uneventful clear corneal incision phacoemulsification. MATERIALS AND METHODS: Twenty patients with a senile cataract underwent coaxial phacoemulsification through a 2.75-mm-wide corneal incision created at 180° in a prospective cohort pilot study. Corneal sublayer thickness measurements were obtained with Fourier-domain optical coherence tomography (FD-OCT, Cirrus HD-OCT, Carl Zeiss Meditec, Inc., Dublin, CA) before and after 1 week and 1 month postoperatively. Central measurements were performed in the middle of the FD-OCT scan and in the 3-mm corneal diameter (paracentral 180° and 0° locations). Epithelial, non-epithelial and total corneal pachymetry were measured at the central and paracentral locations. RESULTS: No significant changes in epithelial thickness were seen 1 week postoperatively. However, 1 month postoperatively, the central, 180°, and 0° paracentral epithelial thicknesses (52.7 ± 3.8, 53.1 ± 5.4, and 52.7 ± 5.3 µm, respectively) decreased significantly (p < 0.01) compared to preoperatively (57.2 ± 4.8, 58.0 ± 5.7, 56.6 ± 5.3 µm, respectively). The 1-week central, 180°, and 0° paracentral non-epithelial corneal thicknesses (515.5 ± 39.6, 534.3 ± 45.6, and 521.3 ± 36.9 µm) were significantly (p < 0.01) higher than preoperatively (486.2 ± 34.7, 498.2 ± 33.8, 497.5 ± 32.3 µm, respectively). The non-epithelial corneal thickness increase was significantly (p = 0.02) greater after 1 week in the central (29.3 ± 17.2 µm) and the 180° paracentral (36.1 ± 28.7 µm) locations than at the 0° paracentral location (23.8 ± 16.5 µm). CONCLUSIONS: Immediate postoperative corneal edema following phacoemulsification irregularly affects the cornea at the sublayer level. The initial central and paracentral non-epithelial thickening is compensated by subsequent central and paracentral epithelial thinning. These initial changes occurred more markedly closest to the main incision over the entrance pupil, which may have visual implications.

Orbital apex syndrome secondary to herpes zoster virus infection.

A male patient with herpes zoster ophthalmicus (HZO) presented with left exophthalmos, external and internal ophthalmoplegia and decreased visual acuity. A CT scan revealed myositis without significant compression of the optic nerve. Intravenous acyclovir and oral steroids were started with improvement of the symptoms and eventual complete recovery.Orbital apex syndrome is a rare complication of HZO. Multiple pathogenic mechanisms are involved, including a direct cytopathic effect of the virus as in the present case. Early diagnosis and therapy may lead to complete recovery of visual function.