Improved predictive diagnosis of diabetic macular edema based on hybrid models: An observational study.

Diabetic Macular Edema (DME) is the most common sight-threatening complication of type 2 diabetes. Optical Coherence Tomography (OCT) is the most useful imaging technique to diagnose, follow up, and evaluate treatments for DME. However, OCT exam and devices are expensive and unavailable in all clinics in low- and middle-income countries. Our primary goal was therefore to develop an alternative method to OCT for DME diagnosis by introducing spectral information derived from spontaneous electroretinogram (ERG) signals as a single input or combined with fundus that is much more widespread. Baseline ERGs were recorded in 233 patients and transformed into scalograms and spectrograms via Wavelet and Fourier transforms, respectively. Using transfer learning, distinct Convolutional Neural Networks (CNN) were trained as classifiers for DME using OCT, scalogram, spectrogram, and eye fundus images. Input data were randomly split into training and test sets with a proportion of 80 %-20 %, respectively. The top performers for each input type were selected, OpticNet-71 for OCT, DenseNet-201 for eye fundus, and non-evoked ERG-derived scalograms, to generate a combined model by assigning different weights for each of the selected models. Model validation was performed using a dataset alien to the training phase of the models. None of the models powered by mock ERG-derived input performed well. In contrast, hybrid models showed better results, in particular, the model powered by eye fundus combined with mock ERG-derived information with a 91 % AUC and 86 % F1-score, and the model powered by OCT and mock ERG-derived scalogram images with a 93 % AUC and 89 % F1-score. These data show that the spontaneous ERG-derived input adds predictive value to the fundus- and OCT-based models to diagnose DME, except for the sensitivity of the OCT model which remains the same. The inclusion of mock ERG signals, which have recently been shown to take only 5 min to record in daylight conditions, therefore represents a potential improvement over existing OCT-based models, as well as a reliable and cost-effective alternative when combined with the fundus, especially in underserved areas, to predict DME.

Toxicidad de memantina intravítrea en retina de conejos / Intravitreal memantine retinal toxicity in rabbits

OBJETIVO: Valorar histopatológicamente si existe toxicidad en la retina de conejos, posterior a la aplicación intravítrea de memantina. MÉTODOS: Se utilizaron 16 ojos de 16 conejos raza Nueva Zelanda de 3 kg, divididos en 4 grupos de 4 conejos cada uno. Al grupo A se le aplicó una dosis de 70 ng/ml de memantina intravítrea, al grupo B se le aplicó una dosis de 150 ng/ml de memantina intravítrea, al grupo C se le aplicó una dosis de 400 ng/ml de memantina intravítrea, y al grupo D se le aplicó 1 ml de solución salina balanceada. Se enucleó el ojo inyectado en la mitad de cada grupo a los 15 días, y el resto del grupo se enucleó a los 30 días posterior a la inyección. Posterior a la enucleación, cada ojo fue colocado en formaldehido al 10%. Se realizó análisis histopatológico a cada uno de los ojos enucleados. Los animales fueron tratados de acuerdo a los estatutos de la Association for Research on Vision and Ophthalmology (ARVO). RESULTADOS: Los grupos A, B y D no presentaron alteraciones histopatológicas tras 15 y 30 días de enucleación. El grupo C presentó alteración a nivel de la capa de fotorreceptores a los 15 y 30 días posterior a la enucleación. CONCLUSIONES: La memantina intravítrea a dosis de 70 mg/dl y 150 mg/dl no es tóxica a nivel estructural en la retina. La memantina a dosis de 400 mg/dl es tóxica a nivel estructural en la retina. La memantina podría ser considerada en el futuro para el tratamiento de distrofias de retina. Diversos estudios deberán ser realizados al respecto

OBJECTIVE: To histologically evaluate whether the intravitreal application of memantine produces retinal toxicity in rabbits. METHODS: A cross-sectional design, experimental, descriptive study was performed on 16 eyes of 16 New Zealand rabbits of 3 kg, divided in 4 groups of 4 rabbits. A dose of 70 ng/ml of intravitreal memantine was administered in Group A, a dose of 150 ng/ml in Group B, a dose of 400 ng/ml in Group C, and Group D received 1 ml of balanced salt solution. The injected eye of half of each group was enucleated 15 days after the injection, and the rest within 30 days after injection. Following enucleation, each eye was placed in 10% formaldehyde. Histopathological analysis was performed on all enucleated eyes. The animals were treated according to the guidelines of the Association for Research on Vision and Ophthalmology (ARVO). RESULTS: Groups A, B and D did not show any histopathological changes after their enucleation at 15 and 30 days. Group C showed changes in the photoreceptor layer after enucleation at 15 and 30 days. CONCLUSIONS: In our study, it was observed that memantine concentrations at 70 ng/ml and 150 ng/ml are safe when administered intravitreally; however, doses of 400 ng/ml produced retinal structural changes. This research should continue to assess its clinical usefulness

Intravitreal memantine retinal toxicity in rabbits.

OBJECTIVE: To histologically evaluate whether the intravitreal application of memantine produces retinal toxicity in rabbits. METHODS: A cross-sectional design, experimental, descriptive study was performed on 16 eyes of 16 New Zealand rabbits of 3 kg, divided in 4 groups of 4 rabbits. A dose of 70 ng/ml of intravitreal memantine was administered in Group A, a dose of 150 ng/ml in Group B, a dose of 400 ng/ml in Group C, and Group D received 1 ml of balanced salt solution. The injected eye of half of each group was enucleated 15 days after the injection, and the rest within 30 days after injection. Following enucleation, each eye was placed in 10% formaldehyde. Histopathological analysis was performed on all enucleated eyes. The animals were treated according to the guidelines of the Association for Research on Vision and Ophthalmology (ARVO). RESULTS: Groups A, B and D did not show any histopathological changes after their enucleation at 15 and 30 days. Group C showed changes in the photoreceptor layer after enucleation at 15 and 30 days. CONCLUSIONS: In our study, it was observed that memantine concentrations at 70 ng/ml and 150 ng/ml are safe when administered intravitreally; however, doses of 400 ng/ml produced retinal structural changes. This research should continue to assess its clinical usefulness.

[Septo-optic dysplasia (Morsier's syndrome): a case report]. / Displasia septóptica (síndrome de Morsier): a propósito de un caso.

CASE REPORT: We report the case of an infant with septo-optic dysplasia, or Morsier's syndrome, which is a condition affecting the central nervous system that can only be confirmed by means of neuroimaging. This syndrome involves hypoplasia of one or both optic nerves, absence of septum pellucidum, agenesis of the corpus callosum, cerebellar atrophy, ventricular dilatation and brain cysts, together with ectopic, aplastic or hypoplastic neurohypophysis. CONCLUSIONS: It is an infrequent disease and its causation is uncertain, although the predominant hypothesis suggests a genetic foundation. The mechanism by which it is transmitted by inheritance is unknown. The age of the mother is characteristically low; it is known that over half the children affected by this condition were born to mothers below the age of 20. It may be accompanied by liver damage and it is essential to establish a diagnosis and treatment as early as possible. Prognosis is general favourable.

Displasia septóptica (síndrome de Morsier): a propósito de un caso / Septo-optic dysplasia (Mosier’s syndrome): A case report

Caso clínico. Se presenta el caso de una lactante con displasia septóptica o síndrome de Morsier, una entidad del sistema nervioso central que sólo puede confirmarse por medio de neuroimágenes. Este síndrome consiste en la hipoplasia de uno o ambos nervios ópticos, ausencia de septo pelúcido, agenesia de cuerpo calloso, atrofia cerebelosa, dilatación ventricular y quistes cerebrales, junto con neurohipófisis ectópica, aplásica o hipoplásica. Conclusiones. Se trata de una enfermedad infrecuente y de etiología poco clara, en la que predomina la hipótesis genética. No se conoce el mecanismo de transmisión hereditaria. De forma característica, la edad materna suele ser baja; es conocido que en más de la mitad de los niños afectados eran hijos de madres con edad inferior a 20 años. Puede acompañarse de daño hepático y es de gran importancia su diagnósticotemprano e instauración de tratamiento. El pronóstico en general es bueno

We report the case of an infant with septo-optic dysplasia, or Morsier’s syndrome, which is a conditionaffecting the central nervous system that can only be confirmed by means of neuroimaging. This syndrome involves hypoplasia of one or both optic nerves, absence of septum pellucidum, agenesis of the corpus callosum, cerebellar atrophy, ventricular dilatation and brain cysts, together with ectopic, aplastic or hypoplastic neurohypophysis. Conclusions. It is an infrequent disease and its causation is uncertain, although the predominant hypothesis suggests a genetic foundation. The mechanism by which it is transmitted by inheritance is unknown. The age of the mother is characteristically low; it is known that over half the children affected by this condition were born to mothers below the age of 20. It may be accompanied by liver damage and it is essentialto establish a diagnosis and treatment as early as possible. Prognosis is general favourable

Hipertrofia congénita del epitelio pigmentado de la retina en un paciente con tumor hipofisario / Congenital hypertrophy of the retinal pigment epithelium in a patient with a pituitary tumour

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Tomographic findings in traumatic globe evulsion caused by blunt head trauma.

Evulsion of the globe as a result of trauma is a rarity; to the best of our knowledge, only four "evulsions of the globe" have been described. We present the case of a 35-year-old Hispanic woman with traumatic evulsion of the right eye and subarachnoid haemorrhage. The management of brain injury was the priority over preservation of globe structures. We briefly describe the tomographic features of this uncommon situation and the proposed "evulsion" mechanism.

[Sub-tenon steroid treatment in choroidal neovascularization caused by serpiginous choroiditis. A case report]. / Esteroides subtenonianos en neovascularización coroidea secundaria a coroiditis serpinginosa. Presentación de un caso.

CASE REPORT: We present a report of a patient suffering from serpiginous choroiditis complicated by choroidal neovascularization (CNV). Sub-tenon steroid treatment, added to the usual immunosuppressive therapy, resolved the CNV, improving visual acuity in one eye. DISCUSSION: Choroidal neovascularization is a sight-threatening complication of posterior uveitis. Our case suggests that sub-tenon steroid treatment, added to systemic immunosuppressive therapy, may accelerate the CNV resolution in posterior uveitis.

Esteroides subtenonianos en neovascularización coroidea secundaria a coroiditis serpinginosa. Presentación de un caso / Sub-tenon steroid treatment in choroidal neovascularization caused by serpiginous choroiditis. A case report

Caso clínico: Se presenta el caso clínico de una paciente con coroiditis serpiginosa y neovascularización coroidea (NVC) activa en ambos ojos. Tras tratamiento con terapia inmunosupresiva sistémica junto con inyección sub-Tenon posterior de esteroides, conseguimos la resolución de la NVC en ambos ojos, mejorando la capacidad visual en uno de los ojos. Discusión: La NVC es una complicación de las uveítis posteriores, cuya presencia amenaza de forma importante la visión. El presente caso sugiere que los esteroides subtenonianos añadidos a terapia inmunosupresiva sistémica, pueden acelerar la resolución de NVC tras uveítis posteriore (AU)

Case report: We present a report of a patient suffering from serpiginous choroiditis complicated by choroidal neovascularization (CNV). Sub-tenon steroid treatment, added to the usual immunosuppressive therapy, resolved the CNV, improving visual acuity in one eye. Discussion: Choroidal neovascularization is a sight-threatening complication of posterior uveitis. Our case suggests that sub-tenon steroid treatment, added to systemic immunosuppressive therapy, may accelerate the CNV resolution in posterior uveitis (AU)

[Macular hole surgery without postoperatory <> down positioning. Pilot study]. / Cirugía de agujero macular sin posición <> postoperatoria. Estudio piloto.

PURPOSE: To evaluate the visual and anatomical outcomes of macular hole surgery using phacoemulsification, vitrectomy and intraocular gas tamponade without the use of postoperative face down positioning. METHODS: Phacoemulsification with an intraocular lens implant, followed by vitrectomy with internal limiting membrane peeling and perfluoropropane (C3F8), was performed in patients with stage 3 or 4 macular holes. After surgery, patients had to avoid the supine position for 15 days. Patients with a gas level <50% during the first week had a fluid-gas exchange. Visual acuity and closure of the macular hole were evaluated after 1 year of follow-up. RESULTS: 20 eyes of 20 patients, aged 60 to 75 years (median age 68 years), were included in this study. The best initial visual acuity ranged from 0.05 to 0.13 (ETDRS), with the median being 0.06. The final visual acuity was 0.05 to 0.30 with a median of 0.10. A statistically significant improvement (p=0.001, Wilcoxon) was found. The anatomic postoperative results revealed 90% (n=18) of the macular holes were closed while 10% (n=2) were not. CONCLUSIONS: Macular hole surgery has, in general, good results and patients can achieve improvement in their visual acuity without the need for uncomfortable and unbearable post operative posture positions.

Cirugía de agujero macular sin posición «boca abajo» postoperatoria. Estudio piloto / Macular hole surgery without postoperatory «face fown» positioning. Pilot study

Objetivos: Evaluar los resultados visuales y anatómicosen el tratamiento del agujero macular confacoemulsificación, vitrectomía y gas intraocularsin mantenimiento de posición boca abajo en elpostoperatorio.Material y metodos: Se realizó cirugía de facoemulsificacióncon implante de lente intraocular,vitrectomía con pelado de la membrana limitanteinterna y gas perfluoropropano (C3F8) al 17% enpacientes con diagnóstico de agujero macular gradosIII y IV. En el postoperatorio se indicó evitar laposición supina durante 15 días. Se realizó intercambioliquido gas en los pacientes con menos del50% de gas a la primera semana. Se evaluó la mejoríade la agudeza visual y el porcentaje de cierre delagujero macular después de un año de seguimiento.Resultados: Se incluyeron 20 ojos de 20 pacientescon edad entre 60 y 75 años con una mediana de 68años. La mejor agudeza visual corregida (AVcc)inicial varió de 0,05 a 0,13 con una mediana de0,06. La AVcc final estuvo entre 0,05 a 0,3 con una clasificamedianade 0,10. Al comparar la agudeza visual inicialy final se encontró una mejoría estadísticamentesignificativa de p=0.001(Wilcoxon). Los resultadospostoperatorios en cuanto al estado anatómicofinal del agujero macular fueron exitosos en el 90%(n= 18) y sin éxito en el 10% (n=2).Conclusiones: La cirugía de agujero macular esgeneralmente beneficiosa y los pacientes puedenmejorar su visión sin ser necesario el mantenimientode posiciones incomodas e intolerables paraalgunos pacientes

Purpose: To evaluate the visual and anatomical outcomes of macular hole surgery using phacoemulsification, vitrectomy and intraocular gas tamponade without the use of postoperative face down positioning. Methods: Phacoemulsification with an intraocular lens implant, followed by vitrectomy with internal limiting membrane peeling and perfluoropropane (C3F8), was performed in patients with stage 3 or 4 macular holes. After surgery, patients had to avoid the supine position for 15 days. Patients with a gas level <50% during the first week had a fluid-gas exchange. Visual acuity and closure of the macular hole were evaluated after 1 year of follow-up. Results: 20 eyes of 20 patients, aged 60 to 75 years (median age 68 years), were included in this study. The best initial visual acuity ranged from 0.05 to 0.13 (ETDRS), with the median being 0.06. The final visual acuity was 0.05 to 0.30 with a median of 0.10. A statistically significant improvement (p=0.001, Wilcoxon) was found. The anatomic postoperative results revealed 90% (n=18) of the macular holes were closed while 10% (n=2) were not. Conclusions: Macular hole surgery has, in general, good results and patients can achieve improvement in their visual acuity without the need for uncomfortable and unbearable post operative posture positions

[Retained intraocular foreign body. an unusual presentation]. / Presentación inusual de un cuerpo extraño intraocular.

CLINICAL CASE: A 25-year-old man presented with a unilateral retinal detachment, and an ipsilateral preretinal mass; ultrasonographic findings included a high-reflective peripheral mass and a retinal fold. A presumptive diagnosis of a peripheral toxocara granuloma was entertained. We performed a 360 degree circumferential scleral buckle and a conventional vitrectomy via the pars plana. Histologic examination of the mass defined a central non-metallic foreign body surrounded by fibrous tissue. DISCUSSION: An intraocular non-metallic foreign body, surrounded by a fibrous capsule and feeding and draining blood vessels, can mimic the characteristics of a peripheral toxocara granuloma, and the differential diagnosis has to be kept in mind.

Presentación inusual de un cuerpo extraño intraocular / Retained intraocular foreign body. An unusual presentation

Caso Clínico: Se trata de un hombre de 25 años con desprendimiento de retina unilateral y presencia de una masa pre-retiniana ipsilateral. Ecográficamente la masa periférica presentaba una reflectividad alta. Se realizó un cerclaje escleral en 360Þ con vitrectomía vía pars plana convencional. El examen histopatológico reveló un CEIO no metálico rodeado por una cubierta de tejido fibroso.Discusión: Los cuerpos extraños intraoculares rodeados con tejido fibroso y presencia de vasos nutricios se pueden presentar con las características de un granuloma periférico por toxocara, otro diagnóstico diferencial para tener presente

Clinical case: A 25-year-old man presented with a unilateral retinal detachment, and an ipsilateral preretinal mass; ultrasonographic findings included a high-reflective peripheral mass and a retinal fold. A presumptive diagnosis of a peripheral toxocara granuloma was entertained. We performed a 360 degree circumferential scleral buckle and a conventional vitrectomy via the pars plana. Histologic examination of the mass defined a central non-metallic foreign body surrounded by fibrous tissue. Discussion: An intraocular non-metallic foreign body, surrounded by a fibrous capsule and feeding and draining blood vessels, can mimic the characteristics of a peripheral toxocara granuloma, and the differential diagnosis has to be kept in mind

Radial optic neurotomy for ischaemic central vein occlusion.

BACKGROUND/AIMS: Ischaemic central retinal vein occlusion (CRVO) accounts for 20-50% of all CRVO. No treatment has been proved to be effective. The efficacy of radial optic neurotomy (RON) was evaluated in eyes with ischaemic CRVO. METHODS: 10 patients with ischaemic CRVO underwent RON. After pars plana vitrectomy, a microvitreoretinal blade was used to incise the scleral ring, cribriform plate, and adjacent sclera at the nasal edge of the optic disc. Best corrected visual acuity (BCVA), intraocular pressure (IOP), fluorescein angiography (FA), multifocal electroretinography (mfERG), and optical coherence tomography (OCT) were measured preoperatively and at 1, 3, and 6 months postoperatively. RESULTS: No visual improvement was noted in the eyes that underwent RON. FA and mfERG showed no increase in retinal perfusion or retinal function postoperatively. Mean macular central thickness changed from 841 (SD 170) mum preoperatively to 162 (SD 34) microm at the sixth postoperative month. One patient had retinal central artery perforation intraoperatively. One patient developed neovascular glaucoma. CONCLUSION: RON in ischaemic CRVO did not improve visual function (by mfERG) or visual acuity although macular thickness did improve. This technique may be associated with potential risks. Randomised studies are needed to corroborate these results.

[Phacoemulsification cataract surgery in vitrectomized eyes]. / Facoemulsificación en ojos post-vitrectomía pars plana.

OBJECTIVE: This study focuses on determining the intra- and post-operative complications stemming from technical difficulties, anatomical aspects, intraoperatory management and visual outcome of post-vitrectomized patients that undergo phacoemulsification. METHOD: In this prospective, longitudinal, observational and descriptive study phacoemulsification was performed in 25 post-vitrectomized eyes that required cataract surgery. Pre-surgical variables: sex, age, affected eye, visual accuity, underlying vitreoretinal disease, anterior segment morphological findings such as: cataract density and pupil alterations. Intrasurgical variables: characteristic of anterior chamber and pupil, phacoemulsification technique and time and the presence of complications. Post-surgical variables were also registered: visual capacity and the presence of complications. Minimum six-month follow-up period. RESULTS: The average interval between pars plana vitrectomy and phacoemulsification was 18.5 months. Silicone oil was the most frequent tamponade used in our serie (44%). Biomicroscopical findings were miosis 28% and posterior synechies 24%. The average interval of phaco time was 2.26 minutes. The intraoperative findings were fluctuations in the anterior chamber depth (24%) and anterior capsular tears (12%). The postoperative complications most frequently seen were posterior capsular plaque (28%) and corneal edema (16%). CONCLUSIONS: Phacoemulsification is a safe and effective technique in eyes after pars plana vitrectomy that require cataract surgery. The surgeon must be aware of the morphological and anatomical findings of these eyes. Visual rehabilitation will generally be determined by the presence of an underlying vitreo-retinal pathology.

Facoemulsificación en ojos post-vitrectomía pars plana / Phacoemulsification cataract surgery in vitrectomized eyes

Objetivo: Determinar las complicaciones intra y postoperatorias en ojos de pacientes post-vitrectomizados que ameritan cirugía de catarata con técnica de facoemulsificación. Método: Estudio prospectivo, longitudinal observacional y descriptivo en 25 ojos de 25 pacientes, previa vitrectomía pars plana que requerían cirugía de catarata. Variables prequirúrguicas: edad, sexo, ojo afectado, capacidad visual, patología vitreorretiniana, características morfológicas del segmento anterior tales como grado de opacidad del cristalino, características de la cámara anterior y de la pupila. Variables intraoperatorias: técnica, tiempo de facoemulsificación y complicaciones intraoperatorias. Variables post-operatorias: Complicaciones y capacidad visual. Seguimiento no menor de 6 meses. Resultados: El tiempo promedio entre la vitrectomía pars plana y la facoemulsificación fue de 18,5 meses. La silicona fue el material de tamponamiento utilizado con mayor frecuencia 44%. Hallazgos biomicroscópicos: miosis 28% y sinequias posteriores 24%. El tiempo promedio de facoemulsificación: 2,26 minutos. Complicaciones intraoperatorias: cámara anterior inestable 24% y el desgarro de la capsulorrexis anterior 12%. La complicación post-operatoria más frecuente fue la placa subcapsular posterior 28% y el edema corneal 16%. Conclusiones: La facoemulsificación en ojos con vitrectomía pars plana previa que ameriten cirugía de catarata, es una técnica bastante segura y efectiva. El cirujano debe familiarizarse con los hallazgos y modificaciones anatómicas que sufren estos ojos. La rehabilitación visual por lo general va a estar limitada por la patología vitreo-retiniana de base(AU)

Objective: This study focuses on determining the intra- and post-operative complications stemming from technical difficulties, anatomical aspects, intraoperatory management and visual outcome of post-vitrectomized patients that undergo phacoemulsification. Method: In this prospective, longitudinal, observational and descriptive study phacoemulsification was performed in 25 post-vitrectomized eyes that required cataract surgery. Pre-surgical variables: sex, age, affected eye, visual accuity, underlying vitreoretinal disease, anterior segment morphological findings such as: cataract density and pupil alterations. Intrasurgical variables: characteristic of anterior chamber and pupil, phacoemulsification technique and time and the presence of complications. Post-surgical variables were also registered: visual capacity and the presence of complications. Minimum six-month follow-up period. Results: The average interval between pars plana vitrectomy and phacoemulsification was 18.5 months. Silicone oil was the most frequent tamponade used in our serie (44%). Biomicroscopical findings were miosis 28% and posterior synechies 24%. The average interval of phaco time was 2.26 minutes. The intraoperative findings were fluctuations in the anterior chamber depth (24%) and anterior capsular tears (12%). The postoperative complications most frequently seen were posterior capsular plaque (28%) and corneal edema (16%). Conclusions: Phacoemulsification is a safe and effective technique in eyes after pars plana vitrectomy that require cataract surgery. The surgeon must be aware of the morphological and anatomical findings of these eyes. Visual rehabilitation will generally be determined by the presence of an underlying vitreo-retinal pathology(AU)

[Bilateral macular cysts secondary to electric current strike. A case report]. / Quistes maculares bilaterales inducidos por descarga eléctrica. Presentación de un caso.

OBJECTIVE: To report the clinical and tomographic findings in a case of maculopathy secondary to high-tension electric current strike. CASE REPORT: A 27-year-old male refers a reduction in his visual acuity after electric strike. Visual acuity was 0.05 in both eyes. Circular reddish macular lesions measuring 400 micro m in RE and 200 micro m in LE were evident. Optical coherence tomography (OCT) showed intraretinal foveal cysts. At the third month follow-up visit, visual acuity had improved to 0.4 in RE and 0.5 in LE. Clinical and tomographic evaluation showed a reduction of the foveal cysts. DISCUSSION: Electricity affects retinal pigment epithelium and retina by thermal denaturation. OCT provides a conclusive diagnosis.

Quistes maculares bilaterales inducidos por descarga eléctrica. Presentación de un caso / Bilateral macular cysts secondary to electric current strike. A case report

Objetivo: Reportar hallazgos clínicos y tomográficos de maculopatía por descarga eléctrica. Caso Clinico: Paciente varón, 27 años con disminución visual tras descarga eléctrica. Agudezas visuales de 0,05 en ambos ojos. Lesiones maculares circulares, rojizas, de 400 µm en OD y 200 µm en OI. Tomografía óptica coherente demostró lesiones foveales quísticas intraretinianas. A los 3 meses la agudeza visual mejoró a 0,4 en OD y 0,5 en OI con reducción de los quistes foveales clínica y tomográficamente. Discusión: La electricidad afecta el epitelio pigmentario y retina externa por desnaturalización térmica. La tomografía es concluyente para el diagnóstico (AU)

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Complete achromatopsia associated with skeletal anomalies: a new autosomal recessive syndrome.

Complete achromatopsia associated with skeletal anomalies: a new autosomal recessive syndrome: Achromatopsia or rod monochromatism is the complete absence of color discrimination, with an estimated frequency of 1 in 100,000. To date the McKusick Catalogue includes more than 10 entities related to Achromatopsia. This paper describes four Mexican sibs with a stationary rod monochromatism, associated with long fingers and toes, hypothenar and thenar hypoplasia and pes planus, suggesting a new genetic entity probably inherited in an autosomal recessive mode.