Queratoconjuntivitis por Vittaforma corneae: una enfermedad emergente entre los viajeros que regresan del sudeste asiático / Vittaforma Corneae keratoconjunctivitis: An emerging pathology among travelers returning from Southeast Asia

La queratoconjuntivitis por Microsporidium es un cuadro infrecuente. Se ha asociado a brotes epidémicos en Asia relacionados con la exposición a agua o tierra contaminada. Habitualmente estos cuadros son autolimitados y leves, pero pueden tener evoluciones prolongadas. Presentamos el caso de una paciente de 29 años que comenzó con dolor, enrojecimiento, visión borrosa en su ojo derecho tras su vuelta de un viaje a Singapur y que no mejoró tras un tratamiento convencional frente a conjuntivitis. Fue diagnosticada de queratoconjuntivitis por Microsporidium mediante PCR y tinción con PAS del epitelio corneal. El tratamiento inicial fue desbridamiento epitelial, albendazol oral y voriconazol, levofloxacino y propamidina, pero la enfermedad conjuntival y corneal no cedió hasta que si introdujeron corticoides tópicos 5 meses después para tratar la limbitis. Debemos tener la sospecha de queratitis por Microsporidium en casos de queratitis unilateral y conjuntivitis, sobre todo en pacientes que vuelvan de Asia

Microsporidium keratoconjunctivitis is an very rare disease. It is related to outbreaks in Asia due to exposure to contaminated water or soil. Microsporidium keratoconjunctivitis is a a self-limited disease, but it could have long term courses. We present the case of a 29 year old woman who started with pain, redness and blurred vision after a holiday in Singapore and did not respond to conjunctivitis treatment. PCR sequencing and PAS staining of corneal epithelial biopsy identified Vittaforma corneae as the causative organism. Treatment was initiated with corneal debridement, oral albendazol, and intensive topical voriconazole, levofloxacin and propamidine, but the conjunctival and corneal disease was only resolved 5 months later with the introduction of topical steroids to treat her severe limbitis. Suspicion of Microsporidium keratoconjunctivitis should be raised amongst ophthalmologists in unilateral keratitis with mild conjunctivitis in travelers from Asia

Vittaforma Corneae keratoconjunctivitis: An emerging pathology among travelers returning from Southeast Asia. / Queratoconjuntivitis por Vittaforma corneae: una enfermedad emergente entre los viajeros que regresan del sudeste asiático.

Microsporidium keratoconjunctivitis is an very rare disease. It is related to outbreaks in Asia due to exposure to contaminated water or soil. Microsporidium keratoconjunctivitis is a a self-limited disease, but it could have long term courses. We present the case of a 29 year old woman who started with pain, redness and blurred vision after a holiday in Singapore and did not respond to conjunctivitis treatment. PCR sequencing and PAS staining of corneal epithelial biopsy identified Vittaforma corneae as the causative organism. Treatment was initiated with corneal debridement, oral albendazol, and intensive topical voriconazole, levofloxacin and propamidine, but the conjunctival and corneal disease was only resolved 5 months later with the introduction of topical steroids to treat her severe limbitis. Suspicion of Microsporidium keratoconjunctivitis should be raised amongst ophthalmologists in unilateral keratitis with mild conjunctivitis in travelers from Asia.

Recommendations for eye care during the alarm state by the coronavirus disease pandemic COVID-19. / Recomendaciones para la atención oftalmológica durante el estado de alarma por la pandemia de enfermedad por coronavirus COVID-19.

OBJECTIVE: Minimize exposure to the SARS-CoV-2, reduce the chances of cross-transmission between patients and healthcare personnel, and prevent the development of postoperative complications from the management of patients with eye diseases during the 2019 coronavirus disease pandemic (COVID-19). METHODS: COVID-19 literature review and consensus establishment between different Spanish ophthalmology societies in order to provide guidelines and recommendations of maximum resources primarily conditioned by the state of alert, confinement and social distancing that occurs in Spain since March 16, 2020. RESULTS: The recommendations will promote the adoption of action and protection measures for eye care in outpatient clinics, surgical areas and hospitalization, for unconfirmed (asymptomatic and symptomatic) and confirmed COVID-19 patients. Measures must be adapted to the circumstances and availability of personal protective equipment in each of the centers and Autonomous Communities, which will be updated according to the pandemic phases and the measures adopted by the Spanish Government. CONCLUSIONS: During the COVID-19 pandemic, attention to the potential health risks to the population caused by coronavirus should prevail over the possible progression of the common eye diseases. Ophthalmologists and other eye care professionals must assume a possible progression of these diseases due to the impossibility of adequate patient follow-up.

Queratopatía neurotrófica postherpética: etiopatogenia, clínica y terapias actuales / Post-herpes neurotrophic keratopathy: Aetiopathogenesis, clinical signs and current therapies

La queratopatía neurotrófica (QN) es una enfermedad corneal degenerativa causada por un daño en la inervación del nervio trigémino. Esta situación produce defectos epiteliales, ulceración y, eventualmente, perforación. Tanto la queratitis por herpes simple como por varicela zoster constituyen la principal causa de QN. Además, el pronóstico en este tipo de QN es pobre. Los hallazgos clínicos clásicos en la QN postherpética incluyen la rotura epitelial espontánea, defectos epiteliales ovalados y centrales de bordes suaves, queratolisis con adelgazamiento del estroma, cicatrización y neovascularización. Aunque se han descrito tratamientos médicos y quirúrgicos prometedores, actualmente no hay un tratamiento definitivo para restaurar la sensibilidad de la córnea. Por tanto, la QN sigue siendo un reto terapéutico. En esta revisión resumimos la patogenia, la clínica y el tratamiento actual de la QN postherpética. Se discute el papel del tratamiento antiviral y de las vacunas contra el virus de la varicela-zoster. Se describen nuevas terapias médicas y quirúrgicas, como los agentes regenerativos y la neurotización corneal

Neurotrophic keratopathy (NK) is a degenerative corneal disease caused by damage of trigeminal innervation. This leads to epithelial defects, ulceration and, eventually, perforation. Both herpes simplex and varicella zoster keratitis are reported to be the main causes of NK. Furthermore, prognosis in this type of NK is poor. Classic clinical findings in post-herpes NK are spontaneous epithelial breakdown, round and central epithelial defects with smooth edges, stromal melting and thinning, scarring, and neovascularisation. Although several medical and surgical treatments have been reported, no therapies are currently available to definitely restore corneal sensitivity. Therefore, NK remains a challenging disease to treat. In this review a summary is presented of the pathogenesis, manifestations, and current management of post-herpes NK. The role of antiviral treatment and varicella-zoster vaccination is also discussed. A description is also presented on both medical and surgical novel therapies, such as regenerative drugs and corneal neurotization

Post-herpes neurotrophic keratopathy: Aetiopathogenesis, clinical signs and current therapies. / Queratopatía neurotrófica postherpética: etiopatogenia, clínica y terapias actuales.

Neurotrophic keratopathy (NK) is a degenerative corneal disease caused by damage of trigeminal innervation. This leads to epithelial defects, ulceration and, eventually, perforation. Both herpes simplex and varicella zoster keratitis are reported to be the main causes of NK. Furthermore, prognosis in this type of NK is poor. Classic clinical findings in post-herpes NK are spontaneous epithelial breakdown, round and central epithelial defects with smooth edges, stromal melting and thinning, scarring, and neovascularisation. Although several medical and surgical treatments have been reported, no therapies are currently available to definitely restore corneal sensitivity. Therefore, NK remains a challenging disease to treat. In this review a summary is presented of the pathogenesis, manifestations, and current management of post-herpes NK. The role of antiviral treatment and varicella-zoster vaccination is also discussed. A description is also presented on both medical and surgical novel therapies, such as regenerative drugs and corneal neurotization.

Hematoma pre-descemético tras EPNP, tratado mediante membranotomía de la Descemet y hallazgos de OCT de segmento anterior: presentación de 2 casos clínicos / Descemet membranotomy to treat pre-descemet haematoma after deep sclerectomy and anterior segment-OCT related findings: A presentation of two clinical cases

CASO CLÍNICO: Mujer de 81 años y varón de 63, que desarrollan un hematoma pre-descemético (HPD) tras una esclerectomía profunda no perforante (EPNP), la primera durante la cirugía y el segundo durante el postoperatorio precoz. Se describe la técnica quirúrgica que permite tanto la evacuación del hematoma como la preservación de la integridad de la membrana trabéculo-descemética. Se presentan los hallazgos de OCT de segmento anterior tras la cirugía. Discusión: Describimos los primeros casos del HPD tras EPNP, manejados exitosamente con una membranotomía ab interno de Descemet. Se debe estar alerta ante esta rara complicación, potencialmente amenazadora para la visión

CASE PRESENTATION: An 81 year-old woman and a 63 year-old man developed a pre-Descemet haematoma after deep sclerectomy (DS), the former during the surgery itself and the latter during the early post-operative period. The surgical technique is decribed that led to the evacuation of the haematoma and the preservation of the integrity of trabeculo-Descemet membrane. The anterior-segment OCT findings after surgery are also presented. Conclusions: These are the first reported cases of pre-Descemet haematoma after DS that have been successfully repaired by an ab interno Descemet membranotomy. Surgeons should be aware of this rare, but potentially sight-threatening, complication

Descemet membranotomy to treat pre-descemet haematoma after deep sclerectomy and anterior segment-OCT related findings: A presentation of two clinical cases. / Hematoma pre-descemético tras EPNP, tratado mediante membranotomía de la Descemet y hallazgos de OCT de segmento anterior: presentación de 2 casos clínicos.

CASE PRESENTATION: An 81 year-old woman and a 63 year-old man developed a pre-Descemet haematoma after deep sclerectomy (DS), the former during the surgery itself and the latter during the early post-operative period. The surgical technique is decribed that led to the evacuation of the haematoma and the preservation of the integrity of trabeculo-Descemet membrane. The anterior-segment OCT findings after surgery are also presented. CONCLUSIONS: These are the first reported cases of pre-Descemet haematoma after DS that have been successfully repaired by an ab interno Descemet membranotomy. Surgeons should be aware of this rare, but potentially sight-threatening, complication.

Diágnóstico del lenticono en el síndrome de Alport: cálculo del ángulo apical de la cápsula anterior del cristalino mediante imágenes Scheimpflug / Lenticonus diagnosis in Alport's syndrome: Anterior capsule apical angle calculation using Scheimpflug imagery

OBJETIVO: Se describe un método simplificado para detectar lenticono anterior. Realizamos imágenes Scheimpflug del segmento anterior con Pentacam a 3 ojos de 2 pacientes con lenticono anterior y 16 ojos de controles sanos. Se identificó el ángulo del ápex de la cápsula anterior y se midió con AutoCAD. RESULTADOS: El ángulo medio fue 173,06° (DE: 1,91) en los controles sanos y 158,33° (DE: 3,05) en los lenticonos. El ángulo obtenido en los pacientes resultó ser más agudo en más de 3 DE que el de los controles. CONCLUSIONES: El método del cálculo del ángulo apical parece discriminar adecuadamente entre cristalinos normales y lenticono anterior

OBJECTIVE: We describe a simplified method to detect anterior lenticonus. Three eyes of 2 patients with anterior lenticonus, plus 16 eyes from 16 healthy controls underwent Scheimpflug imaging of their anterior segment with Pentacam. The anterior capsule apex angle was manually identified and automatically measured by AutoCAD. RESULTS: The mean angle was 173.06° (SD: 1.91) in healthy subjects, and 158.33° (SD: 3.05) in anterior lenticonus eyes. The angle obtained from patients was more than 3 SD steeper than those from healthy subjects. CONCLUSIONS: The apical angle calculation method seems to discriminate well between normal eyes and eyes suspected of having anterior lenticonus

Lenticonus diagnosis in Alport's syndrome: Anterior capsule apical angle calculation using Scheimpflug imagery.

OBJECTIVE: We describe a simplified method to detect anterior lenticonus. Three eyes of 2 patients with anterior lenticonus, plus 16 eyes from 16 healthy controls underwent Scheimpflug imaging of their anterior segment with Pentacam. The anterior capsule apex angle was manually identified and automatically measured by AutoCAD. RESULTS: The mean angle was 173.06° (SD: 1.91) in healthy subjects, and 158.33° (SD: 3.05) in anterior lenticonus eyes. The angle obtained from patients was more than 3 SD steeper than those from healthy subjects. CONCLUSIONS: The apical angle calculation method seems to discriminate well between normal eyes and eyes suspected of having anterior lenticonus.

Double port injector device to reduce endothelial damage in DMEK.

OBJECTIVE: To study endothelial injury from a newly designed asymmetric double port Descemet Membrane Endothelial Keratoplasty (DMEK) injector, both ex-vivo and in clinical practice. DESIGN: Laboratory investigation with an interventional case series study. METHOD: Sixteen rabbit endothelial rolls were tested for injection using a no-touch technique. For each pair of rolls, one endothelial graft underwent injection with a single port Pasteur pipette twice, wheras the other was injected with a novel asymmetric double port injector with a larger diameter entry port than the exit port also twice. Each graft was stained with 4-6-diamidino-2-phenylinidole dihydrochloride and was counted under a fluorescence-inverted microscope before and after injection. The proportion of graft injury was calculated and the differences were analyzed. Subsequently, six patients requiring DMEK underwent surgery using this novel insertion device and endothelial cell loss was calculated 3 months after the surgery. RESULTS: After injection, the mean proportion of endothelial cell survival with the single port pipette was 78.8% (n=8; SD: ±20.9%), whereas the double port injector yielded a survival rate of 96.8% (n=8; SD: ±8.4%). This difference was statistically significant (P=0.008), representing less endothelial injury with the double port device. Early endothelial cell loss after 3 months in the DMEK patients was 26.1% (SD: ±6.1%). CONCLUSION: In our injection model, using a double port injector created significantly less endothelial cell damage than with the single port pipette. Clinically, this device yielded early endothelial cell loss comparable to that of the series performed by experienced DMEK surgeons.

Evaluation of the in vitro activity of commercially available moxifloxacin and voriconazole eye-drops against clinical strains of Acanthamoeba.

PURPOSE: Acanthamoeba is an opportunistic pathogen which is the causal agent of a sight-threatening ulceration of the cornea known as "Acanthamoeba keratitis" (AK) and, more rarely, an infection of the central nervous system called "granulomatous amoebic encephalitis" (GAE). The symptoms of AK are non-specific, and so it can be misdiagnosed as a viral, bacterial, or fungal keratitis. Furthermore, current therapeutic measures against AK are arduous, and show limited efficacy against the cyst stage of Acanthamoeba. Moxifloxacin, a fourth generation fluoroquinolone, has been used with other drugs to treat GAE, but its efficacy as a treatment for AK is not known. Voriconazole has been used to treat AK; however, its cysticidal efficacy is not known. Both drugs are commercially available as eye-drops. The aim of this study was to evaluate the in-vitro activity of these eye-drops against Acanthamoeba compared to two reference drugs (chlorhexidine and amphotericin B) which are currently used to treat AK and GAE. METHODS: The sensitivity of two clinical and one type strain of Acanthamoeba to the commercial concentrations of the four drugs was evaluated with a colorimetric assay. Mature cysts were incubated with voriconazole to determine their sensitivity to this drug. The effects on cell proliferation and cell toxicity were determined using standard procedures with commercial kits. RESULTS: The four compounds were active against the Acanthamoeba strains in this study. Although it prevented encystation, moxifloxacin's amoebicidal activity was low. Voriconazole activity was greater than that of the other drugs, even at a concentration lower than in commercial eye drops. It was effective against cysts and decreased cell proliferation, with low cellular cytotoxicity. CONCLUSION: Voriconazole could be used against AK as a first-line treatment or in combination. Moxifloxacin is an interesting adjuvant to consider as it is effectively prevents encystation of the amoeba which often complicates infection resolution. In addition, moxifloxacin is effective in preventing secondary bacterial infections.

Immunosuppressive properties of mesenchymal stem cells: advances and applications.

Mesenchymal stem cells (MSCs) have been isolated from a variety of tissues, such as bone marrow, skeletal muscle, dental pulp, bone, umbilical cord and adipose tissue. MSCs are used in regenerative medicine mainly based on their capacity to differentiate into specific cell types and also as bioreactors of soluble factors that will promote tissue regeneration from the damaged tissue cellular progenitors. In addition to these regenerative properties, MSCs hold an immunoregulatory capacity, and elicit immunosuppressive effects in a number of situations. Not only are they immunoprivileged cells, due to the low expression of class II Major Histocompatibilty Complex (MHC-II) and costimulatory molecules in their cell surface, but they also interfere with different pathways of the immune response by means of direct cell-to-cell interactions and soluble factor secretion. In vitro, MSCs inhibit cell proliferation of T cells, B-cells, natural killer cells (NK) and dendritic cells (DC), producing what is known as division arrest anergy. Moreover, MSCs can stop a variety of immune cell functions: cytokine secretion and cytotoxicity of T and NK cells; B cell maturation and antibody secretion; DC maturation and activation; as well as antigen presentation. It is thought that MSCs need to be activated to exert their immunomodulation skills. In this scenario, an inflammatory environment seems to be necessary to promote their effect and some inflammation-related molecules such as tumor necrosis factor-α and interferon-γ might be implicated. It has been observed that MSCs recruit T-regulatory lymphocytes (Tregs) to both lymphoid organs and graft. There is great controversy concerning the mechanisms and molecules involved in the immunosuppressive effect of MSCs. Prostaglandin E2, transforming growth factor-ß, interleukins- 6 and 10, human leukocyte antigen-G5, matrix metalloproteinases, indoleamine-2,3-dioxygenase and nitric oxide are all candidates under investigation. In vivo studies have shown many discrepancies regarding the immunomodulatory properties of MSCs. These studies have been designed to test the efficacy of MSC therapy in two different immune settings: the prevention or treatment of allograft rejection episodes, and the ability to suppress abnormal immune response in autoimmune and inflammatory diseases. Preclinical studies have been conducted in rodents, rabbits and baboon monkeys among others for bone marrow, skin, heart, and corneal transplantation, graft versus host disease, hepatic and renal failure, lung injury, multiple sclerosis, rheumatoid arthritis, diabetes and lupus diseases. Preliminary results from some of these studies have led to human clinical trials that are currently being carried out. These include treatment of autoimmune diseases such as Crohn's disease, ulcerative colitis, multiple sclerosis and type 1 diabetes mellitus; prevention of allograft rejection and enhancement of the survival of bone marrow and kidney grafts; and treatment of resistant graft versus host disease. We will try to shed light on all these studies, and analyze why the results are so contradictory.

Visual field index rate and event-based glaucoma progression analysis: comparison in a glaucoma population.

AIMS: The aim of the study was to compare event-based glaucoma progression analysis (GPA) I with new GPA II software and pattern deviation-based trend analyses (visual field index [VFI]) to detect progression in a glaucoma population. METHODS: This was a retrospective study that included 90 eyes of 90 patients with a minimum of five reliable visual field tests and a follow-up period of at least 2 years. RESULTS: Event-based GPA II detected progression in 16.7% of eyes in which trend analysis VFI failed. GPA detected progression 6.8 months earlier than VFI. GPA I and II showed excellent agreement (k = 0.94). Agreement between VFI and mean deviation (MD) linear analysis and with GPA criteria was k = 0.52 and k = 0.48, respectively. Mean rates of progression of MD and VFI were -0.41 dB and -1.30% annually, respectively (rho = 0.824; p<0.0001). Using VFI, mean follow-up time was 6.12 and 4.89 years (p = 0.004) and the mean number of visual field tests was 7.33 and 6.01 (p = 0.023) in eyes with and without progression, respectively. CONCLUSIONS: Event-based software GPA I and II had excellent agreement. Event analysis showed earlier and greater sensitivity for detecting progression than VFI analysis and both had only moderate agreement. Trend analysis VFI is likely to detect progression in patients with a greater number of visual field tests and a longer follow-up time. The VFI analysis seems to be more accurate than MD analysis for determining rate of progression.

Ipsilateral rotational autokeratoplasty: a review.

Corneal opacity is a major cause of monocular blindness and, after cataract, is also a leading cause of blindness worldwide. Keratoplasty techniques for the treatment of corneal opacities include deep anterior lamellar allokeratoplasty, penetrating allokeratoplasty, penetrating bilateral autokeratoplasty, and ipsilateral rotational autokeratoplasty (IRA). This review describes the indications, technique, and outcomes of IRA. IRA is only indicated for patients with a localised opacity leaving a minimum diameter of 4-5 mm of uninvolved clear cornea. For these few patients in whom the procedure is practicable, the surgery can be planned by manipulating digital images to estimate the trephine size and location and/or by the use of formulas. IRA may not provide either as good spectacle acuity or as good quality of vision as penetrating keratoplasty because of higher astigmatism and a reduced corneal pupillary clear zone, but these disadvantages are often outweighed when the risk of allograft rejection is high, as in paediatric patients and those with vascularised corneas. The main benefits of IRA are the retention of host endothelium, thereby eliminating both the risk of endothelial rejection and the prolonged attrition of endothelial cell numbers that occurs following penetrating keratoplasty, and the reduced requirement for postoperative steroid therapy with its associated complications.

Optic disc cupping after optic neuritis evaluated with optic coherence tomography.

PURPOSE: To determine whether the optic disc experiences cupping after an episode of optic neuritis as assessed by optical coherence tomography (OCT). METHODS: A total of 50 patients with unilateral optic neuritis and 50 age- and sex-matched controls were studied. A complete examination, including visual acuity (VA), visual fields, and OCT scanning of the optic nerve head was performed. Mean cup-to-disc (C/D) ratios in the affected eyes were compared with fellow and control eyes. RESULTS: Mean C/D area ratio (CDAR), C/D vertical ratio (CDVR), and C/D horizontal ratio (CDHR) were significantly larger in the affected eyes compared to fellow (P<0.001) and control eyes (P<0.05). The asymmetry in CDAR, CDVR, and CDHR between both eyes in the patients with optic neuritis was equal to or greater than 0.2 in 24, 28, and 30% respectively. A significant inverse correlation was found between the C/D ratios asymmetry and retinal nerve fibre layer (RNFL) thickness (P<0.05). CONCLUSION: A significant increase in C/D ratio can be detected by OCT after unilateral optic neuritis, inversely correlated with RNFL thickness, and VA.

Surgically induced astigmatism after biaxial phacoemulsification compared to coaxial phacoemulsification.

PURPOSE: A comparison of the topographic astigmatism generated after coaxial phacoemulsification (CP) through temporal 2.8 mm incision and biaxial phacoemulsification (MICS) through superior-oblique trapezoidal 1.5-2 mm incisions. SETTING: Centre for Visual Sciences (Instituto de Ciencias Visuales, INCIVI), Madrid, SpainMethods This prospective randomized clinical study included 94 eyes of 64 patients; 43 eyes were operated on through CP and 51 through MICS. Corneal topography was measured before operation, and subsequently after 1, 3, and 6 months. Additionally, a control group (C) of 55 eyes was created (performing two topographies on them); the change in astigmatism was calculated without having performed any surgical procedure. The astigmatic change in the three groups was measured through arithmetic, polar and vector analysis (Alpins method). RESULTS: In the vector analysis, results after the first month following surgery were: mean module of the surgically induced astigmatism (SIA) 0.49+/-0.38 D in CP and 0.48+/-0.37 D in MICS, while 0.31+/-0.27 D in group C. Although no statistically significant differences were detected between the two surgical techniques, differences were noted when comparing group C with each of these techniques (P<0.05). The distribution of the SIA axes showed a slight tendency to be located more frequently at around 90 degrees in CP, and at around 50 degrees in MICS. CONCLUSIONS: The mean module of SIA was similar in CP and in MICS, although the distribution of the direction of such a vector revealed minor differences.

Cup-to-disc ratio: agreement between slit-lamp indirect ophthalmoscopic estimation and stratus optical coherence tomography measurement.

PURPOSE: To determine agreement between slit-lamp indirect ophthalmoscopy and Stratus optical coherence tomography (OCT) when assessing cup-to-disc ratios (CDRs). METHODS: Twenty-five ocular hypertensive subjects and 56 patients with primary open-angle glaucoma were included. Estimation of vertical (VCDR) and horizontal (HCDR) cup-to-disc ratio with slit-lamp ophthalmoscopy was made by three glaucoma specialists along with OCT scanning of optic nerve head. Agreement between OCT and specialists was measured by intraclass correlation coefficients (ICC), Bland and Altman's scatterplots, and a regression coefficient of the average difference. RESULTS: The mean VCDR and HCDR was significantly higher (P<0.001) with OCT than that estimated by the specialists, with the difference ranging from 0.08 to 0.11, and from 0.13 to 0.18, respectively, depending on the specialist. Difference was higher (P<0.001) for cuppings below 0.3, and looses significance for larger VCDR cuppings (above 0.7). ICC for VCDR was 0.87 among specialists, and ranges from 0.82 to 0.75 when comparing OCT and specialists. ICC for HCDR was 0.83 among specialists and 0.74 between OCT and specialists. When data were plotted according to the Bland-Altman method, as the cupping increased, the agreement also increased. CONCLUSIONS: There is very good agreement among the specialists when estimating CDRs by stereoscopic slit-lamp biomicroscopy. OCT shows higher values than the specialists; the greatest differences occurred when assessing small CDRs and the differences diminished as the cupping increased. These two methods of measurement are not interchangeable, and the difference must be considered, especially in discs with smaller CDRs.

[SCA-7. Cone-rod dystrophy in the context of an hereditary ataxia]. / SCA-7. Distrofia de conos-bastones en el seno de una ataxia hereditaria.

CLINICAL CASE: A 21-year-old male presented with bilateral loss of visual acuity within the last year, and cerebellar ataxia since childhood. Two members of his family had a similar disorder. Examination showed bilateral central scotomas, as well as an electroretinogram pattern and optic coherence tomography images consistent with cone-rod dystrophy. Molecular analysis by PCR amplification and genotyping of the SCA7 gene established the diagnosis of SCA-7. DISCUSSION: SCA-7 is a polyglutamine expansion disorder and the only spinocerebellar ataxia that shows a cone-rod dystrophy phenotype, which probably results from interference with the action of specific cone-rod genes.

SCA-7. Distrofia de conos-bastones en el seno de una ataxia hereditaria / SAC-7. Cone-Rod dystrophy in the context of an hereditary ataxia

Caso clínico: Varón de 21 años se presenta con pérdida de visión bilateral desde hace un año, y ataxia cerebelosa desde la infancia. Dos familiares presentaban un cuadro clínico similar. En la exploración se objetivaron escotomas centrales bilaterales y patrón compatible con distrofia conos-bastones en electrorretinograma y tomografía de coherencia óptica. El análisis molecular mediante amplificación por PCR y genotipado del gen SCA7 estableció el diagnóstico de SCA-7, un síndrome genético por expansión de poliglutaminas.Discusión: SCA-7 es un síndrome genético por expansión de poliglutaminas y la única ataxia espinocerebelosa que asocia una distrofia conos-bastones, probablemente por una interacción anómala con proteínas reguladoras de genes específicos de fotorreceptores

Clinical case: A 21-year-old male presented with bilateral loss of visual acuity within the last year, and cerebellar ataxia since childhood. Two members of his family had a similar disorder. Examination showed bilateral central scotomas, as well as an electroretinogram pattern and optic coherence tomography images consistent with cone-rod dystrophy. Molecular analysis by PCR amplification and genotyping of the SCA7 gene established the diagnosis of SCA-7. Discussion: SCA-7 is a polyglutamine expansion disorder and the only spinocerebellar ataxia that shows a cone-rod dystrophy phenotype, which probably results from interference with the action of specific cone-rod genes