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.

Management of external ocular prosthesis by ocularists: results of an online survey conducted in Brazil and Spain.

PURPOSE: To analyse the ocularist's perspective on the management of the anophthalmic socket and external ocular prosthesis (EOP). METHODS: Ocularists from two countries were invited to participate in an online questionnaire. Data were collected on demographics, anophthalmic socket and EOP management (manufacturing, use, cleaning), complications, follow-up visits and multidisciplinary care. The frequency and proportions of the responses were statistically analysed. RESULTS: The questionnaire was addressed to 20 Brazilian and 17 Spanish ocularists, obtaining a response rate of 65% and 64.7%, respectively. 62.5% of respondents were men. The most common cause of anophthalmia in Brazil (69.2%) and Spain (36.4%) is an eye disease (chi square: p = 0.188). Polymethylmethacrylate (PMMA) is the most commonly used material in EOP manufacture (chi square: p = 0.448), and 70.8% reported using customized EOPs (chi square: p = 0.069). Deposits are frequently observed in both countries (chi square: p = 0.157). Changing the prosthesis is recommended after 5 to 10 years by Brazilian ocularists, and after less than 5 years of use by Spanish ocularists (81.8%) (chi square: p = 0.041). Annual follow-up is recommended by Spanish ocularists (45.5%), while semestral (38.5%) and case-dependent (38.5%) follow-up is recommended by Brazilian ocularists (chi square: p = 0.267). Daily cleaning is advocated by 61.5% of Brazilian ocularists and once a month by 45.5% of Spanish ocularists (chi square: p = 0.098), with 75% of ocularists from both countries not recommending EOP removal at night (Fisher´s exact test: p = 0.166). Good communication between ocularists and ophthalmologists was reported by 87.5% of our responders (chi square: p = 0.642). CONCLUSION: Although there are no unified protocols on the management of EOPs, Brazilian and Spanish ocularists follow similar guidelines. Differences between countries were the patients´ referral and the prosthesis´ useful life.

Anterior versus posterior retractor reinsertion with a lateral tarsal strip for involutional entropion repair: A multicentric experience.

PURPOSE: The aim was the comparison of two different approaches to re-insert the inferior eyelid retractors within addition to lateral tarsal strip at lower eyelid involutional entropion (LEIE) surgical correction. METHOD: This multicentric retrospective case series involved 233 consecutive patients (195 eyelids) who underwent LEIE repair. All the lids had a lateral tarsal strip (LTS) in addition to the reinsertion of retractors onto the tarsal plate via the anterior approach (group 1) or the posterior approach (group 2). The desired normal position of the eyelids at 6-month follow-up was considered 'surgical successes, while entropion recurrence and overcorrection (ectropion) were considered 'surgical failures'. RESULTS: One-hundred ninety-one (82%) surgeries were included in group 1 and 42 (18%) in group 2. The success rate was 92.1% (176 lids) in group 1 and 85.7% (36 lids) in group 2 (p = 0.188). The recurrence rate was statistically higher for group 2 (14.3%) than for group 1 (3.7%) (p = 0.016). Overcorrection only described in group 1 (3.1%). Both groups had a similar complication rate (p = 0.268), with trichiasis being the most frequent (14, 6%). Ten eyelids (47.6%) from the 21 overall failures were satisfactorily reoperated, and the remaining ones were treated conservatively. CONCLUSION: The anterior or posterior approach to reinsert lower eyelid retractors to tarsal plate in addition to LTS to correct LEIE can provide a similar outcome. However, the anterior approach achieves a slightly higher success rate with fewer recurrences but with a higher overcorrection rate.

Validation of the inverse method for the determination of the access flow with thermodilution.

INTRODUCTION: Thermodiluction is a widely used method for measuring vascular access flow (QA). Among the possibilities of TD, the reverse method (MI) can be beneficial in the execution time, without impact on the dialysis efficacy (Kt). However, it is not a sufficiently studied technique. METHOD: Transversal study of 117 arteriovenous fistulas (AVF). Two QA measurements were taken with the method described by the manufacturer (MR) and another with MI. MI is bases in the obtention of an inverted recirculation registry at the beginning of the session and a single subsequent recirculation measurement with the lines in normal position. In the concordance analysis, the Bland-Altman method and Cohen's Kappa index were used. RESULTS: Very good concordance between MR and MI was evidenced for QA below 700 ml/min, but it worsens as flow increases. The median variability between the MR measurements (intra-method variability) was 3.4% (-17.13). This value did not differ from the median variability generated between MR and MI (inter-method variability), which was 2% (-14, 12) (P = 0.287). The degree of agreement between the two to identify AVFs susceptible to intervention was very good (K = 0.834). The time spent using the MI was significantly shorter (P = 0.000) without evidence of variations in the Kt of the measurement sessions (P = 0.201). CONCLUSIONS: The thermodiluction MI is valid to determine the flow of the vascular access, especially in Qa lower than 700 ml/min, with great time savings, simplification of the procedure and without modifying the dialysis efficiency. The variability between the measurement by MR and MI is similar to that of MR. The concordance between methods in identifying potentially pathological AVFs is very good.

Validación del método inverso para la determinación del flujo de acceso con termodilución / Validation of the inverse method for the determination of the access flow with thermodilution

Introducción: La termodilución es un método ampliamente usado para la medición del flujo de acceso vascular (QA). Entre las posibilidades de la termodilución, el método inverso (MI) puede ser beneficioso en el tiempo de ejecución, sin repercusión en la eficacia dialítica (Kt). Sin embargo, no es una técnica lo suficientemente estudiada.MétodoEstudio transversal sobre 117 fístulas arteriovenosas. Se realizaron 2 mediciones de QA con el método descrito por el fabricante (MR) y otra con MI. El MI se basa en la obtención del registro de recirculación invertida al iniciar la sesión y una única medición posterior de recirculación con las líneas en posición normal. En el análisis de concordancia se utilizó el método Bland-Altman y el índice kappa de Cohen.ResultadosSe evidenció muy buena concordancia entre MR y MI para QA inferiores a 700ml/min, pero empeora a medida que aumenta el flujo. La variabilidad mediana entre las mediciones con MR (variabilidad intramétodo) fue del 3,4% (−17,13). Este valor no difirió de la variabilidad mediana generada entre MR y MI (variabilidad intermétodo), que fue del 2% (−14,12) (p=0,287). El grado de acuerdo entre ambos para identificar fístulas arteriovenosas susceptibles de intervención fue muy bueno (kappa=0,834). El tiempo empleado utilizando el MI fue significativamente menor (p=0,000), sin evidenciarse variaciones en el Kt de las sesiones de medida (p=0,201).ConclusionesEl MI de termodilución es válido para determinar el flujo del acceso vascular, especialmente en QA inferiores a 700ml/min, con gran ahorro de tiempo, simplificación del procedimiento y sin modificar la eficacia de diálisis. La variabilidad entre la medición por MR y MI es similar a la propia del MR. La concordancia entre métodos a la hora de identificar fístulas arteriovenosas potencialmente patológicas es muy buena. (AU)

Introduction: Thermodilution is a widely used method for measuring vascular access flow (QA). Among the possibilities of thermodilution, the reverse method (RM) can be beneficial in the execution time, without impact on the dialysis efficacy (Kt). However, it is not a sufficiently studied technique.MethodTransversal study of 117 arteriovenous fistulas. Two QA measurements were taken with the method described by the manufacturer (MR) and another with RM. RM is based on the obtention of an inverted recirculation registry at the beginning of the session and a single subsequent recirculation measurement with the lines in normal position. In the concordance analysis, the Bland-Altman method and Cohen's Kappa index were used.ResultsVery good concordance between MR and RM was evidenced for QA below 700ml/min, but it worsens as flow increases. The median variability between the MR measurements (intra-method variability) was 3.4% (−17.13). This value did not differ from the median variability generated between MR and RM (inter-method variability), which was 2% (−14,12) (P=.287). The degree of agreement between the 2 to identify arteriovenous fistulas susceptible to intervention was very good (Kappa=0.834). The time spent using the RM was significantly shorter (P=.000) without evidence of variations in the Kt of the measurement sessions (P=.201).ConclusionsThe thermodilution RM is valid to determine the flow of the vascular access, especially in QA lower than 700ml/min, with great time savings, simplification of the procedure and without modifying the dialysis efficiency. The variability between the measurement by MR and RM is similar to that of MR. The concordance between methods in identifying potentially pathological arteriovenous fistulas is very good. (AU)

Objective assessment of eyelid position and tear meniscus in facial nerve palsy.

PURPOSE: To evaluate lower lid position and tear meniscus in peripheral idiopathic facial nerve palsy (FNP). METHODS: A prospective study enrolled patients with peripheral idiopathic FNP and epiphora. Data were collected on patient demographics, House-Brackmann (HB) scale, digital photographs of the face, and tear meniscus at the 1st, 30, and 90 day after onset of FNP. Marginal reflex distance to the upper (MRD1) and lower eyelid (MRD2) were evaluated using ImageJ software. Anterior segment optical coherence tomography (OCT) was performed to measure the tear menis- cus. P< .05 was considered statistically significant. RESULTS: Sixteen patients were evaluated. The HB scale at presentation was grade III in six patients (37.5%). At 90 day, nine patients (56.25%) were grade I-normal. Three (18.7%) had upper lid retraction, three (18.7%) upper eyelid asymmetry and 7 (43.75%), lower eyelid retraction. The difference between MRD2-FNP with MRD2-healthy side was 0.51 ± 1.9 mm at the 1st visit, decreasing to 0.09 ± 1.47 mm at 90 days (P= .877). Tear meniscus measurements were significantly higher in FNP at the 1st visit (P= .001). The decrease in MRD2 was statistically correlated with the reduction of the tear meniscus area (TMA) (r = 0.67; P= .007) at 90 days. No correlation was found between HB and TMA. There is a difference in TMA between age groups at the 1st day(p= .009). Eldest group had higher HB scales. CONCLUSION: Quantitative evaluation of eyelid position and tear meniscus are effective to document the evolution of FNP and can serve as a clue of orbicularis recovery.

Primary periocular squamous cell carcinoma in central Spain: Factors related to recurrence.

PURPOSE: To describe the characteristics and recurrence rates of primary periocular squamous cell carcinoma (SCC) in Spain. METHODS: This retrospective study investigates the characteristics of primary periocular SCC at two tertiary centers in Spain from 2000 to 2020. Data were collected on demographics, skin phenotype, location, clinical and histological diagnosis, the commitment of surgical margins, recurrence, and risk factors. Multivariate analysis and risk factors were used to investigate recurrence rates, considering p < 0.05 as statistically significant. RESULTS: Over the 20-year studied period, 107 patients with primary periocular SCC were assessed. The mean age of SCC was 76.8 ± 12.8 years, 55 (50.9%) were females, and 105 (98.1%) had Fitzpatrick skin phenotype type II or III. SCC lesions affected less than 1/3 of the eyelid (56/52.3% cases), mainly the lower lid (42/39.3% lesions). Sixty (56.1%) cases were SCC differentiated, 76 (71%) had clear margins. Clinical diagnosis of SCC corroborated with histological in 84 (78.5%) cases and orbital involvement occurred in 18 (16.8%) cases. Recurrence was observed in 13 (12.1%) cases, occurring more in large tumors and undifferentiated subtype (53.8%), with committed margins (69.2%) (p = 0.001), being the commitment of margins a significant predictor for recurrence, although thickness was an independent predictor. CONCLUSION: Periocular SCC in Spain showed a similar pattern as in the world. The risk of recurrence is increased in undifferentiated and large periocular SCC, partially removed with committed margins.

Validation of the inverse method for the determination of the access flow with thermodilution. / Validación del método inverso para la determinación del flujo de acceso con termodilución.

INTRODUCTION: Thermodilution is a widely used method for measuring vascular access flow (QA). Among the possibilities of thermodilution, the reverse method (RM) can be beneficial in the execution time, without impact on the dialysis efficacy (Kt). However, it is not a sufficiently studied technique. METHOD: Transversal study of 117 arteriovenous fistulas. Two QA measurements were taken with the method described by the manufacturer (MR) and another with RM. RM is based on the obtention of an inverted recirculation registry at the beginning of the session and a single subsequent recirculation measurement with the lines in normal position. In the concordance analysis, the Bland-Altman method and Cohen's Kappa index were used. RESULTS: Very good concordance between MR and RM was evidenced for QA below 700ml/min, but it worsens as flow increases. The median variability between the MR measurements (intra-method variability) was 3.4% (-17.13). This value did not differ from the median variability generated between MR and RM (inter-method variability), which was 2% (-14,12) (P=.287). The degree of agreement between the 2 to identify arteriovenous fistulas susceptible to intervention was very good (Kappa=0.834). The time spent using the RM was significantly shorter (P=.000) without evidence of variations in the Kt of the measurement sessions (P=.201). CONCLUSIONS: The thermodilution RM is valid to determine the flow of the vascular access, especially in QA lower than 700ml/min, with great time savings, simplification of the procedure and without modifying the dialysis efficiency. The variability between the measurement by MR and RM is similar to that of MR. The concordance between methods in identifying potentially pathological arteriovenous fistulas is very good.

Descriptive Study of a Cohort of 488 Patients with Inherited Retinal Dystrophies.

PURPOSE: To analyze the distribution of inherited retinal diseases (IRDs), describe the clinical characteristics of patients, and determine the percentages of patients with genetic diagnosis in the Castilla y Leon region of Spain. METHODS: All patients with an IRD seen in the two major referral units of Castilla y Leon during a 20-year period were included. The ages at symptom onset, diagnosis, and the last visit; sex; family history; history of consanguinity; type of inheritance; status of the fundus and electroretinogram findings; lens and macular status, visual acuity; and visual field data were recorded. Patients were divided into those with retinitis pigmentosa (RP) and all others. Gene mutations were gathered when available. RESULTS: Four hundred eighty-eight patients with IRDs were studied: 216 (44.26%) with RP of which 34 (15.74%) had syndromic diseases, and 272 had other conditions being 161 (59,19%) macular dystrophies. The mean delay in diagnosis was 6-16.2 years respectively. For the RP group the mean age at the last visit was 47.96±17,26; mean age of cataract surgery was 48.30 ± 12.01 years; and the foveal area was preserved in 74 (35.07%) patients, atrophic in 101 (47.87%), and edematous in 36 (17.06%). A genetic study had been performed in 58 (26.85%) of patients with RP and 71 (26,1%) of the rest, being indeterminate in 17 (29.31%) out of RP group and 20 (28.16%) out of the others. CONCLUSION: Clinical characteristics are comparable to other published series. There is a significant delay in diagnosis. The number of patients with IRDs and available genetic diagnosis, thus being possible candidates for undergoing personalized treatments including gene therapy in our region is low and must be improved.

Ocular emergencies presenting to an emergency department in Central Spain from 2013 to 2018.

PURPOSE: To determine the frequency of ocular conditions among patients presenting to an emergency department at a tertiary hospital in Spain. METHODS: A retrospective, longitudinal analysis of all patients who presented to the ocular emergency department of Rio Hortega University Hospital, Valladolid, Spain, from 2013 to 2018 was performed. Data on demographics, ophthalmic examination, and diagnosis were collected. Diseases were classified according the International Classification of Diseases, Ninth Revision, Clinical Modification codes. RESULTS: We had 20,822 patients, of which 10,878 (52.2%) were women. The main age categories were 45-65 years (7391 patients; 35.5%) and 15-45 years (5979 patients; 28.2%). Most of the patients (17,793; 85.5%) were discharged on the same day. Conjunctival pathology was the most common cause of presentation (4110; 19.7%), followed by corneal disorders (4025; 19.3%). Acute conjunctivitis was diagnosed in 2920 (14%) and ocular trauma in 2125 (10.2%) patients. Non-emergency ophthalmic conditions were diagnosed in 1581 (7.6%) patients. Retinal detachments and peripheral holes occurred more commonly in patients aged 45-65 years (p <0.001). Corneal or conjunctival disorders and lid inflammation (p <0.001) were more frequent in women, whereas men had higher incidences of trauma (p <0.001). CONCLUSION: Most of our patients presented ocular surface diseases. Men were more vulnerable to trauma, mainly superficial foreign body. The majority of the patients presented with uncomplicated ocular conditions that would be managed more cost-effectively by primary health care providers. We advocate greater education of primary care physicians and patients in managing simple ocular emergencies to reduce the cases presenting to an emergency department of a tertiary hospital.

Characteristics and Recurrence of Primary Eyelid Basal Cell Carcinoma in Central Spain.

PURPOSE: To define the incidence, characteristics, and management of eyelid basal cell carcinoma (BCC) in Central Spain. METHODS: This retrospective study investigates the characteristics and the outcome of eyelid BCC from 2000 to 2016 in a central region of Spain. Data were collected on demographics, skin phenotype, location of the eyelid lesion, clinical and histological diagnosis, surgery, commitment of surgical margins, and recurrence rate. RESULTS: Primary eyelid BCC occurred in a mean of 20.6 lesions a year or 9.4/100,000 inhabitants/year. The mean age of BCC carriers was 69.4 ± 16.2 years, with no gender difference (P = 0.479), predominantly affecting Fitzpatrick II-III skin (81.3%) (P < 0.001). The most common location was the inner canthus (154/45.7%) (P < 0.001) and type nodular (215 cases/63.8%) (P < 0.001). The surgical margins were affected in 69 (20.5%) individuals, and the recurrence rate was 5.6 (95% confidence interval, 3.2-8.3) significantly higher in affected margins (P < 0.001). The most common location for recurrence was the inner canthus (P = 0.003), and the most common histological type for recurrence was sclerosing (16.7%), then multinodular (12.5%), and infiltrating (10.4%) with no significant difference (P = 0.27). CONCLUSIONS: The frequency of occurrence of eyelid BCC is much less than the estimated crude incidence for skin tumors involving all areas of the body in the Spanish population. Eyelid BCC is more common in the seventh decade of life, with no predilection for gender. Nodular histological type is the most common. The recurrence rate is 5.6%, depending on site and affected margins, even though clear free margins also can present with recurrence.

PRPH2-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation.

Over 175 pathogenic mutations in the Peripherin-2 (PRPH2) gene are linked to various retinal diseases. We report the phenotype and genotype of eight families (24 patients) with retinal diseases associated with seven distinct PRPH2 gene mutations. We identified a new mutation, c.824_828+3delinsCATTTGGGCTCCTCATTTGG, in a patient with adult-onset vitelliform macular dystrophy (AVMD). One family with the p.Arg46Ter mutation presented with the already described AVMD phenotype, but another family presented with the same mutation and two heterozygous pathogenic mutations (p.Leu2027Phe and p.Gly1977Ser) in the ATP Binding Cassette Subfamily A Member 4 (ABCA4) gene that cause extensive chorioretinal atrophy (ECA), which could be a blended phenotype. The p.Lys154del PRPH2 gene mutation associated with the p.Arg2030Glu mutation in the ABCA4 gene was found in a patient with multifocal pattern dystrophy simulating fundus flavimaculatus (PDsFF), for whom we considered ABCA4 as a possible modifying gene. The mutation p.Gly167Ser was already known to cause pattern dystrophy, but we also found ECA, PDsFF, and autosomal-dominant retinitis pigmentosa (ADRP) as possible phenotypes. Finally, we identified the mutation p.Arg195Leu in a large family with common ancestry, which previously was described to cause central areolar choroidal dystrophy (CACD), but we also found ADRP and observed that it caused ECA more frequently than CACD in this family.

Deep Lateral Wall Partial Rim-Sparing Orbital Decompression with Ultrasonic Bone Removal for Treatment of Thyroid-Related Orbitopathy.

PURPOSE: To describe the results of thyroid-related orbitopathy (TRO) treated by ultrasonic deep lateral wall bony decompression with partial rim sparing (DLW-PRS). METHODS: A review was carried out, from January 2015 to September 2017, of all patients treated with ultrasonic DLW-PRS decompression using a SONOPET® (Stryker, Kalamazoo, MI, USA) ultrasonic aspirator, using a lateral, small triangle flap incision for access. The primary outcome was the change in proptosis (measured by the difference in Hertel exophthalmometry measurements). Other secondary outcomes were changes in visual acuity (VA) (using Snellen scale, decimal fraction), presence of lagophthalmos, eyelid retraction (measured by upper eyelid margin distance to the corneal reflex (MRD1) and lower eyelid margin distance to the corneal reflex (MRD2), and presence of exposure keratopathy). RESULTS: A total of 58 orbital decompressions in 35 patients were reviewed, with 23 patients (65.7%) having bilateral decompressions. There was a female preponderance with 26 patients (74.2%), and the mean age ± standard deviation was 52.6 ± 13.9 years. Mean proptosis was 24.51 ± 1.76 mm preoperatively, reduced to 19.61 ± 1.27 mm in final follow-up. The mean reduction was 4.9 ± 1.54 mm. VA improved from 0.8 ± 0.14 to 0.9 ± 0.12, p=0.039. 5 of 13 patients (38.4%) with preoperative diplopia reported improvement or complete resolution after surgery. MRD1 was reduced from 5.25 ± 0.88 mm to 4.49 ± 0.7 mm. MRD2 was also reduced from 6.3 ± 0.88 mm to 5.0 ± 0.17 mm. Presence of lagophthalmos was reduced from 35 eyes (60.3%) to five (8.6%); the presence of epiphora was also reduced from 20 patients (57.1%) to 3 (8.5%) following decompression. Complications of the surgery included zygomatic hypoaesthesia in 14 (40%) patients in the early postoperative period and chewing alterations in 10 (28.5%) of the patients. All of these complications were resolved at the 6-month follow-up visit. We noted no surgical complications such as ocular or soft tissue damage, infection, inflammation, or visual loss. CONCLUSIONS: The SONOPET® ultrasonic bone curette can be used safely and effectively for DLW orbital decompression surgery. The main benefits were good visualization and handling of tissues and speed and ease of use of the equipment. This trial is registered with ClinicalTrials.gov identifier: NCT04025034.

Phenotypic high myopia in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene.

BACKGROUND: Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous disease causing progressive degeneration of retinal photoreceptor cells. The most severe form of this disease is X-linked RP (XLRP), in which photoreceptor degeneration begins in early childhood and complete blindness often occurs by the fourth decade of life. Two genes commonly associated with XLRP have been previously identified. MATERIAL AND METHODS: One Spanish family with confirmed XLRP was studied for mutations using direct sequencing. A genotype-phenotype correlation with pathologic myopia (PM) is detailed. RESULTS: A new pathogenic mutation in the third exon of the RP GTPase regulator (RPGR) was identified: a variant c212C>G (pSER71*). This mutation appears as a hemizygous variant in the male proband with RP, and as heterozygous variant in the females of this pedigree who invariably exhibit symmetrical PM in both eyes. CONCLUSION: A complete family history allowed determination of the inheritance pattern providing genetic counseling for patients and their families. The geno-phenotypic attributes of this heterozygosity suggest a correlation between RP and PM. This novel mutation would expand the mutation spectrum of RP2 and RPGR, and help to study molecular pathogenesis of RP.

Tarsal switch using an anterior approach to correct severe ptosis.

BACKGROUND: To present the outcomes of the tarsal switch procedure using an anterior approach to correct severe ptosis with poor levator muscle function (<4 mm) with absent or poor Bell's phenomenon. METHODS: This retrospective case series included 11 patients with severe neurogenic or acquired myogenic palpebral ptosis. All patients underwent the tarsal switch procedure through an anterior approach from 2012 to 2015. Margin reflex distance (MRD1 and MRD2) and the palpebral fissure were evaluated preoperatively and postoperatively. Data were compared using the Wilcoxon signed-rank test. P-values <0.05 were considered to indicate statistical significance. RESULTS: Surgery was performed on 18 eyelids (11 patients). The median age at surgery was 57 years (range, 29-86 years). Four patients had unilateral ptosis and seven had bilateral ptosis. Nine patients had myogenic ptosis and two had neurogenic ptosis. Postoperatively, the chin-up position improved in all patients. The MRD1 increased statistically significantly, from 0 mm preoperatively to 1.0 mm postoperatively (P=0.001). The MRD2 decreased statistically significantly, from 4.5 mm preoperatively to 3.0 mm postoperatively (P=0.001). The palpebral fissure did not change (4.0 mm preoperatively to 4.0 mm postoperatively) (P=0.13). CONCLUSIONS: The tarsal switch procedure through an anterior approach is an effective alternative for correcting severe ptosis, especially neurogenic or acquired myogenic ptosis. This procedure can be performed with minimal risk of ocular surface exposure and provides stable outcomes.

Efecto de la dirección de la aguja arterial en la medición del flujo del acceso vascular con métodos dilucionales / Effect of the direction of the arterial needle in the measurement of vascular access flow with dilutional methods

Introducción: La medida del flujo del acceso vascular a través de métodos dilucionales exige la punción retrograda de la aguja arterial. Las últimas recomendaciones de canalización del acceso defienden la punción anterógrada. Objetivo: Cuantificar el error de medición producido por la punción anterógrada y analizar su repercusión clínica. Material y Método: Estudio transversal multicéntrico. Se analizaron medidas de flujo con Termodilución y Ultrasonografia dilucional en punciones anterógradas y retrogradas. Se utilizó el método Bland-Altman, el coeficiente de correlación intraclase y el índice Kappa para contraste con Eco-Doppler. Resultados: Se analizaron 37 fístulas. La punción anterógrada respecto a la retrograda generó medidas que sobrestimaban su diagnóstico en un 65% con Termodilución y 59% con Ultrasonografia Dilucional. El coeficiente de correlación intraclase fue 0,831 para Termodilución y 0,724 para Ultrasonografía Dilucional. El grado de acuerdo clínico entre ambos modos de punción para catalogar a las fístulas con flujo menor de 500ml/min fue del 95% (Índice Kappa=0,841) para Termodilución y del 91% (Índice Kappa=0,760) para Ultrasonografía Dilucional. El grado de acuerdo con Eco-Doppler fue del 86% (Índice Kappa=0.586) y 92% (Índice Kappa=0.720) con Termodilución y Ultrasonografía Dilucional del 78% (Índice Kappa=0.349) y 81% (Índice Kappa=0.400) utilizando la punción anterógrada y retrograda respectivamente. Conclusión: La punción anterógrada presenta un sesgo significativo incrementándose en flujos altos. Clínicamente, el grado de concordancia con ambos métodos dilucionales en los distintos tipos de punción y Eco-Dopler es bueno para descarte de intervención (AU)

Introduction: Measurement of vascular access flow through dilutional methods requires retrograde puncture of the arterial needle. The latest cannulation recommendations defend the antegrade puncture. Aim: Quantify the measurement error due to the anterograde puncture and analyse its clinical repercussion. Material and Method: Multicentric cross-sectional study. Flow measurements were analysed with Termodilution and dilutional Ultrasonography in antegrade and retrograde punctures. We used the Bland-Altman method, the intraclass correlation coefficient and the Kappa index for contrast with Eco-Doppler. Results: Thirty-seven fistulas were analysed. The anterograde puncture with respect to the retrograde one generated measures that overestimated the diagnosis by 65% with Thermodilution and 59% with Dilutional Ultrasonography. The intraclass correlation coefficient was 0.831 for Thermodilution and 0.724 for Dilutional Ultrasonography. The degree of clinical agreement between both types of puncture, to classify fistulas with flow less than 500ml/min, was 95% (Kappa Index = 0.841) for Thermodilution and 91% (Kappa Index = 0.760) for Dilutional Ultrasonography. The degree of agreement, according to the antegrade and retrograde puncture (respectively), with Eco-Doppler was 86% (Kappa Index=0.586) and 92% (Kappa Index=0.720); and with Termodilution and Dilutional Ultrasonography of 78% (Kappa Index=0.349) and 81% (Kappa Index=0.400). Conclusions: The anterograde puncture presents a significant bias increasing in high flows. Clinically, the degree of agreement with both dilutional methods in different types of puncture and Eco-Doppler indicate a good tool as a discarding intervention (AU)

Isolated Fourth Nerve Palsy in Tuberculous Meningitis.

Tuberculous meningitis is a type of subacute meningitis and like other intracranial processes can compromise ocular motor nerves, causing palsies. Trochlear nerve is an unusual isolated manifestation in this type of pathology. The authors report a 5-year-old boy presented in their clinic with a trochlear nerve palsy as unique neurological manifestation of tuberculous meningitis. Treatment with complete anti-tuberculous therapy and botulinum A toxin was needed to get the complete resolution of the nerve palsy. In tuberculous meningitis, the presence of high protein levels and higher number of cells in cerebrospinal fluid is associated with cranial nerve involvement. Usually cranial nerve palsies occur in combination. VI cranial nerve alone or a combined disorder of VI and III cranial nerves are the palsies most frequently presented. Much less common is an isolated disorder of IV cranial nerve in the course of meningitis. The length of full treatment with anti-tuberculous therapy in this case was of 1 year. The persistence of palsy 1 month after the beginning of the symptoms indicated the possibility of a botulinum toxin injection with complete resolution of the process without disability, ocular motility has remained normal on follow-up.

Bilateral endogenous endophthalmitis due to pseudomonas aeruginosa in a neonate.

BACKGROUND: Bacterial eye infections are rare in the neonatal population and usually come from exogenous spread. Eye infection due to Pseudomonas aeruginosa, although uncommon, may be a devastating disease, especially in premature infants. METHODS: Retrospective review of the clinical chart of a 10-day-old newborn baby with bilateral endogenous Pseudomonas aeruginosa endophthalmitis. RESULTS: The patient presented with leukokoria in both eyes 7 days after the onset of severe septicemia due to endophthalmitis in both eyes. The baby received systemic treatment with meropenem and vancomycin, which the cultured bacteria were susceptible to, but the infection progressed. Intravitreal ceftazidime treatment and later vitrectomy could not prevent complete retina detachment and the progressive evolution to phthisis. CONCLUSION: Aggressive therapy including systemic antibiotics, intravitreous antibiotic injection, and vitrectomy could not prevent a poor outcome leading to retinal detachment and blindness in both eyes. A discussion of the treatment options and a review of the literature are also included.

Retinal thickness study with optical coherence tomography in patients with diabetes.

PURPOSE: To quantitatively assess retinal thickness by optical coherence tomography (OCT) in normal subjects and patients with diabetes. This study was intended to determine which retinal thickness value measured with OCT best discriminates between diabetic eyes, with and without macular edema. METHODS: OCT retinal thickness was measured by a manual technique in a total of 26 healthy volunteers (44 control eyes) and 85 patients with diabetes (148 eyes) with the clinical diagnosis of no diabetic retinopathy (45 eyes), nonproliferative diabetic retinopathy without clinically significant macular edema (CSME; 54 eyes), proliferative diabetic retinopathy without CSME (21 eyes), and 28 eyes with diabetic retinopathy with CSME. Independent predictors of the presence of CSME were quantified by using univariate and multivariate logistic regression analyses. Receiver operating characteristic (ROC) curves were generated to evaluate and compare the predictor variables. The correlation of retinal thickness measurements and visual acuity was calculated. RESULTS: There were statistically significant differences in foveal thickness between control eyes and all the other eye groups (P = 0.001). Diabetic eyes with CSME had a statistically significant greater thickness in each of the areas compared with the other groups. In a multivariate logistic regression model, foveal thickness was a strong and independent predictor of CSME (odds ratio [OR], 1.037; 95% confidence interval [CI] 1.02-1.05). The area under the ROC curve of this predictor variable was 0.94 (P = 0.001). For a cutoff point of 180 microm, the sensitivity was 93%, and specificity was 75%. Foveal thickness correlated with visual acuity in a log minimum angle of resolution (logMAR) scale (Spearman's rho = 0.9, P = 0.001). CONCLUSIONS: These results suggest that foveal thickening over 180 microm measured by OCT may be useful for the early detection of macular thickening and may be an indicator for a closer follow-up of the patient with diabetes.