Congenital stromal corneal dystrophy in a Spanish family: Clinical, genetic and histological analysis.

PURPOSE: To present the clinical, genetic, and histopathological features of the ninth family affected by congenital stromal corneal dystrophy (CSCD) to date. METHODS: Twelve cases of a Spanish family affected by CSCD were analyzed regarding history, visual acuity (VA, decimal scale), an ophthalmologic exam and specular microscopy. Five eyes were treated by deep anterior lamellar keratoplasty (DALK), and thirteen eyes by penetrating keratoplasty (PK). In the two last generations, a genetic study was performed. RESULTS: Most of the patients affected were born with opaque corneas except for three, whose corneas were clear at birth. Biomicroscopy showed a whitish diffuse stromal opacity with an unaltered epithelium, causing poor VA (from hand motions to 0.4). Patients treated with PK presented mean postoperative VA of 0.19±0.20 over a follow-up time of 235.3±101.4months with 38% recurrences. Patients who underwent DALK experienced VA improvement to 0.17±0.11 over a follow-up time of 10.8±2.6months without signs of recurrence. In the latter, the big bubble technique was not achieved, so a manual technique was performed. The genetic study showed heterozygosis for a 1-bp deletion at nucleotide 962 in exon 8 of the decorin gene. CONCLUSIONS: CSCD is a rare entity, which should be treated by DALK whenever possible, obtaining better results than PK. Close monitoring of children of affected individuals is important, because CSCD can progress during the early years of life.

Detection and characterisation of visual field defects using Octopus perimetry in congenital glaucoma.

PURPOSE: To detect and characterise visual field (VF) defects using static Octopus perimetry in patients with primary congenital glaucoma (PCG) and to determine VF quality and time duration. MATERIAL AND METHODS: Eighty-eight eyes of 70 patients diagnosed with PCG were included. Assessments were performed using an Octopus 900 and each eye was assessed with the tendency-oriented perimetry (G-TOP) algorithm. Quantitative VF data were collected: quality data (false positive and negative response, and time duration) and results of mean deviation (MD) and square root of loss variance (sLV). Qualitative data were collected: the presence of diffuse and localized defects, the affected hemifield and grade of defects using the Aulhorn and Karmeyer classification. Correlations between perimetric results and clinical variables were analysed. RESULTS: Median age was 11 (8-17) years. 65.9% (58/88) of PCG eyes showed VF defects. Diffuse defects were observed in 10/58 eyes (16.94%) (mean MD = 23.92 [SD: 2.52]) dB) and localized defects in 48/58 eyes (82.75%). The most frequent defect was spot-like/stroke-like/incipient paracentral scotoma (n = 15), nasal step (n = 8), adding arcuate defect (n = 2), half ring-shaped (n = 13) and concentric defect with a central island (n = 9). And the most frequent affected visual hemifield was inferior hemifield. Mean test duration was 2 min 12 s (SD: 21.6 s). MD and sLV values were correlated with best corrected visual acuity (BCVA), cup to disc ratio and number of antiglaucoma surgeries (all P < .001). CONCLUSION: A high number of diffuse and localized defects were identified using Octopus perimetry in PCG patients. The most frequent defect was paracentral scotoma and inferior hemifield was the most affected.

Diagnostic ability of vessel density of the optic nerve head and macula versus structural parameters with optical coherence tomography in pseudoexfoliative glaucoma.

PURPOSE: To evaluate the diagnostic ability of the vessel density (VD) of the optic nerve head (ONH) and the macula on optical coherence tomography (OCT) angiography and the retinal nerve layer thickness (RNFL) thickness and the macular ganglion cell complex (GCC) thickness on OCT in patients with pseudoexfoliative glaucoma (PXG). METHODS: Cross-sectional study including PXG patients and healthy controls. Demographic and clinical data were noted for all participants. Optical coherence tomography (OCT) and OCT angiography (OCTA) images of the ONH and macular area were obtained with the RS-3000 Advance OCT (Nidek Co., Gamagori, Japan). The RNFL and GCC thickness of different sectors was provided by the software. Macular VD of the superficial capillary plexus (SCP) and ONH VD of the radial peripapillary capillary plexus (RPCP) were registered. Groups were compared and area under the receiver operating characteristic (AUROC) curves were used to determine the power of discrimination of each parameter. RESULTS: RNFL and GCC thickness and ONH and macular VD were significantly lower in PXG patients compared with healthy controls (all, p<0.05). The best discrimination parameter was the average RNFL thickness (AUROC: 0.928). ONH VD AUROC was better than that of macular VD (AUROC: 0.897 and 0.780, respectively). ONH VD AUROC was comparable to RNFL thickness (p<0.001). CONCLUSIONS: The diagnostic ability of ONH vessel density in PXG appears comparable to that of the structural parameters, RNFL and GCC thickness, obtained with OCT, and may be a valuable tool in clinical practice.

Intercritical photophobia in the migrainous patient. Proposal for diagnostic criteria.

INTRODUCTION: Photophobia is a symptom of abnormal light intolerance without pain sensation that requires an anamnesis and an examination to diagnose an underlying etiology. BASIC PROCEDURE: This article focuses on 30 clinical cases with isolated intense photophobia and on the review of the literature. OBJECTIVE: The purpose of this article is to establish diagnostic criteria for photophobia. RESULTS: The etiology of photophobia appears to be at the level of the intrinsically photosensitive retinal ganglion cells known as melanopsin cells and at a neurochemical level mediated by calcitonin-related peptide and the pituitary activating peptide cyclase. CONCLUSION: The treatment of photophobia could consist of monoclonal antibodies against calcitonin-related peptide and/or pituitary activating peptide cyclase.

Optic neuropathy by ethambutol in a patient with multiple sclerosis.

We present the clinical case of a patient who developed a toxic optic neuropathy due to ethambutol in the context of a tuberculosis reactivation and who also had a personal history of multiple sclerosis. The objective is to highlight the importance of making a good differential diagnosis of this adverse effect and of knowing its main clinical, campimetric and tomographic manifestations and characteristics. Furthermore, since the reversibility of damage is still discussed in the literature, early diagnosis is essential. For this purpose, it is important to inform the patient of the possible symptoms and to carry out an ophthalmological examination and colour tests before starting treatment to assess whether there is progression.

Intercritical photophobia in the migraineous patient. Proposal for diagnostic criteria. / Fotofobia intercrítica en el paciente migrañoso. Propuesta de criterios diagnósticos.

INTRODUCTION: Photophobia is a symptom of abnormal light intolerance without pain sensation that requires an anamnesis and an examination to diagnose an underlying etiology. BASIC PROCEDURE: This article focuses on 30 clinical cases with isolated intense photophobia and on the review of the literature. OBJECTIVE: The purpose of this article is to establish diagnostic criteria for photophobia. RESULTS: The etiology of photophobia appears to be at the level of the intrinsically photosensitive retinal ganglion cells known as melanopsin cells and at a neurochemical level mediated by calcitonin-related peptide and the pituitary activating peptide cyclase. CONCLUSION: The treatment of photophobia could consist of monoclonal antibodies against calcitonin-related peptide and/or pituitary activating peptide cyclase.

Optic neuropathy by ethambutol in a patient with multiple sclerosis. / Neuropatía óptica por etambutol en paciente con esclerosis múltiple.

We present the clinical case of a patient who developed a toxic optic neuropathy due to ethambutol in the context of a tuberculosis reactivation and who also had a personal history of multiple sclerosis. The objective is to highlight the importance of making a good differential diagnosis of this adverse effect and of knowing its main clinical, campimetric and tomographic manifestations and characteristics. Furthermore, since the reversibility of damage is still discussed in the literature, early diagnosis is essential. For this purpose, it is important to inform the patient of the possible symptoms and to carry out an ophthalmological examination and colour tests before starting treatment to assess whether there is progression.

Comparision of intraocular pressure measured using the new icare 200™ rebound tonometer and the Perkins™ applanation tonometer in healthy subjects and in patients with primary congenital glaucoma. / Comparación entre el tonómetro de rebote IC200 y el tonómetro de aplanación Perkins en sujetos sanos y pacientes con glaucoma congénito.

OBJECTIVE: To compare intraocular pressure (IOP) measurements obtained using the Icare 200™ (IC200) rebound tonometer and the hand-held version of the Goldmann Applanation Tonometer (Perkins™ tonometer, GAT) in patients with primary congenital glaucoma (PCG) and in healthy subjects. MATERIAL AND METHODS: A total of 42 eyes of healthy subjects (G1) and 40 patients with PCG (G2) were analysed. The following clinical data were collected: gender, age, Cup/Disc ratio, central corneal thickness (CCT). IOP was determined in the examination room using the IC200 and GAT tonometers, in the same order. Agreement between both tonometers was determined using the intraclass correlation coefficient (ICC) and Bland-Altman plot. A linear regression analysis was used to establish the IOP was affected by the studied variables. RESULTS: Mean IOP between both tonometers (IC200 minus GAT) was: G1=15.91 (2.57) mmHg vs. 15.06 (2.12) mmHg (mean difference, MD=0.84 (0.50) mmHg; P<.101) and G2=20.10 (6.37) vs.19.12 (5.62) (MD=0.98 (1.36); P=.474). Excellent agreement was found between IC200 and GAT in both groups (ICC=G1: 0.875 (95% CI; 0.768-0.933; P<.001); G2: 0.924 (95% CI; 0.852-0.961; P<.001), and there was a statistically significant correlation between the IOP difference measured with IC200 and GAT and CCT in G1 (B=0.021; 95% CI; 0.005-0.037; P=.008), but was not statistically significant in G2. CONCLUSION: There was excellent agreement between the IC200 and GAT tonometers, both in healthy subjects and PCG, with a trend to overestimate IOP when measured with IC200. There was no influence by CCT on IOP measurements in patients with PGC.

Corneal densitometry and topography in patients with primary congenital glaucoma.

OBJECTIVE: To compare corneal densitometry and topography variables in patients with primary congenital glaucoma (PCG) and healthy subjects. MATERIAL AND METHODS: Cross sectional study, consecutive recruitment with gender- and age-matched control group. Forty eyes of 40 patients in each group were studied with Pentacam corneal topography. The variables compared between the two groups were: intraocular pressure (IOP), visual acuity (VA) and Pentacam (Oculus, Wetzlar, Germany) corneal topography measurements: mean and maximum keratometry (Km, Kmax), cylinder (Cyl), anterior elevation apex (AEA), central anterior elevation (CAE), maximum anterior elevation (MAE), posterior elevation apex (PEA), central posterior elevation (CPE), maximum posterior elevation (MPE), pachymetry and anterior, mid-stromal and posterior corneal densitometry in the 0-2mm, 2-6mm, 6-10mm zones. RESULTS: Significant differences between patients and healthy controls were detected in the topographic variables MAE (P=0.002) and MPE (P<0.001), and in all the densitometry variables (anterior, mid-stromal, posterior for the 0-2mm, 2-6mm and 6-10mm zones) (P<0.001 each). In the PCG group, negative correlation was observed between VA and total densitometry (r=-0.49; P=0.004). CONCLUSION: Patients with PCG and healthy subjects display differences in corneal densitometry and topographic measurements. PCG patients show greater corneal density with an inverse relationship between visual acuity and higher elevation (anterior and posterior values).

Mapping the core of the Arabidopsis circadian clock defines the network structure of the oscillator.

In many organisms, the circadian clock is composed of functionally coupled morning and evening oscillators. In Arabidopsis, oscillator coupling relies on a core loop in which the evening oscillator component TIMING OF CAB EXPRESSION 1 (TOC1) was proposed to activate a subset of morning-expressed oscillator genes. Here, we show that TOC1 does not function as an activator but rather as a general repressor of oscillator gene expression. Repression occurs through TOC1 rhythmic association to the promoters of the oscillator genes. Hormone-dependent induction of TOC1 and analysis of RNA interference plants show that TOC1 prevents the activation of morning-expressed genes at night. Our study overturns the prevailing model of the Arabidopsis circadian clock, showing that the morning and evening oscillator loops are connected through the repressing activity of TOC1.

[Exercise-induced atrioventricular block. Significance of the ischemic component. Report of 4 new cases]. / Bloqueo auriculoventricular inducido por el esfuerzo. Importancia del componente isquémico. Presentación de cuatro nuevos casos.

We report four new cases of exercise-induced atrio-ventricular block (appearing during treadmill exercise testing). The mechanism was ischemia in two patients and the conduction disturbance disappeared after coronary artery bypass grafting. The literature on this matter is reviewed. Also the etiology, the natural history and management are discussed in these cases.

[Propafenone efficacy in preventing supraventricular tachycardia in childhood]. / Eficacia de la propafenona en la prevención de la taquicardia supraventricular en la infancia.

OBJECTIVES: In order to study the efficiency of oral dose of propafenone in preventing childhood supraventricular tachycardias, we have treated 38 children without left ventricular dysfunction. METHODS: The mean age has been 8 +/- 4.7 years old. All of them had suffered at least two episodes of supraventricular tachycardia, and eleven had undergone a previous antiarrhythmic treatment. The initial dose of propafenone has been 6.5 +/- 2.1 mg/kg/24 h (in 3 doses), which has been increased in case of inefficacy. RESULTS: We have not advised neither side-effects, nor proarrhythmic effects, during a follow-up of 13 +/- 6 months. Propafenone has been efficient in preventing supraventricular tachycardias in all patients. The initial dose has been efficient in 17 patients, and we have increased the initial dose up to 11.1 +/- 3.7 mg/kg/24 h in 21 patients. The mean effective dose has been 8.9 +/- 3.6 mg/kg/24 h. We stopped treatment in 14 patients after been 6 months without supraventricular tachycardias. CONCLUSION: From our study, we conclude that propafenone has been efficient in preventing supraventricular tachycardias in childhood with a dose of 8.9 mg/kg/24 h. We have not found side-effects.