A new missense variant in RAB3GAP2 in a family with muscular dystrophy-short stature and defective autophagy: An expansion of the micro/Martsolf spectrum or a new phenotype?

We describe a sibling pair of Mennonite origin born from consanguineous parentage with a likely new phenotype of limb-girdle muscular dystrophy, short stature, ptosis, and tracheomalacia. Exome sequencing in the affected subjects identified a novel homozygous RAB3GAP2 missense variant as the potential causal variant. As RAB3GAP2 has been recently shown to be involved in the autophagy process, we analyzed patient-derived fibroblasts by fluorescence microscopy and demonstrated defective autophagic flux under rapamycin and serum starvation conditions when compared with wild-type cells. The phenotype in the siblings described here is distinct from Martsolf and Warburg's micro syndromes, the currently known diseases arising from RAB3GAP2 pathogenic variants. Thus, this work describes a potentially novel recessive phenotype associated with a RAB3GAP2 defect and manifesting as a muscular dystrophy-short stature disorder with no ocular anomalies. Functional analyses indicated defective autophagy in patient-derived fibroblasts, supporting the involvement of RAB3GAP2 in the etiology of this disorder. Our results contribute to a better characterization of the Martsolf/micro spectrum phenotype.

A Diagnostic Approach to Spastic ataxia Syndromes.

Spastic ataxia is characterized by the combination of cerebellar ataxia with spasticity and other pyramidal features. It is the hallmark of some hereditary ataxias, but it can also occur in some spastic paraplegias and acquired conditions. It often presents with heterogenous clinical features with other neurologic and non-neurological symptoms, resulting in complex phenotypes. In this review, the differential diagnosis of spastic ataxias are discussed and classified in accordance with inheritance. Establishing an organized classification method based on mode inheritance is fundamental for the approach to patients with these syndromes. For each differential, the clinical features, neuroimaging and genetic aspects are reviewed. A diagnostic approach for spastic ataxias is then proposed.

Tumor de hipófise em paciente com hidrocefalia: um desafio diagnóstico / Pituitary tumor in a patient with hydrocephalus: a diagnostic challenge

RESUMO A hidrocefalia é definida como a dilatação ventricular pelo aumento da pressão intraventricular e intracraniana quando não tratada ou por insucesso do tratamento. Muitas vezes, leva ao dano das vias ópticas, podendo causar atrofia óptica, devido à proximidade dessas vias com o ventrículo lateral quando ocorre a dilatação. Assim como a hidrocefalia pode levar à atrofia óptica, outras patologias também podem. Tumores hipofisários compartilham desse mesmo sinal, além de causar hemianospsia bitemporal quando o tumor comprime quiasma óptico. Ademais, a hemianopsia bitemporal é o distúrbio visual mais comum encontrado em pacientes com tumor de hipófise. Os tumores de hipófise, por exemplo, geram manifestações clínicas que podem estar relacionadas à disfunção da glândula ou aos efeitos mecânicos da expansão tumoral. Sinais e sintomas visuais estão mais ligados ao efeito mecânico do tumor. Assim, muitas vezes, o paciente procura o oftalmologista antes do endocrinologista. Neste caso, analisaremos uma paciente portadora de hidrocefalia que apresentava, concomitantemente, um tumor hipofisário, e a investigação oftalmológica fez toda a diferença no tratamento da paciente.

ABSTRACT Hydrocephalus is defined as ventricular dilation caused by increased intraventricular and intracranial pressure when untreated or due to treatment failure. Optical pathways can often cause optic atrophy due to the proximity to the lateral hazard when dilation occurs. Hydrocephalus can lead to optic atrophy, as well as other pathologies. Pituitary tumors share this same sign, in addition to causing bitemporal hemianopia when it compresses the optic chiasm. In addition, bitemporal hemianopia is the visual disturbance most commonly found in patients with pituitary tumors. Pituitary tumors, for example, have clinical manifestations that may be related to gland dysfunction, or to mechanisms of tumor expansion. Visual signs and symptoms are more linked to the mechanical effect of the tumor. Therefore, the patient usually seeks the ophthalmologist before the endocrinologist. In this case, we analyzed a patient with hydrocephalus who presented, at the same time, a pituitary tumor, and the ophthalmological investigation made all the difference in the treatment of the patient.

Deficiencia visual y neurológica posterior a la disfunción del sistema de derivación ventrículoperitoneal: reporte de caso / Visual and neurological impairment post-dysfunction in the ventricle-peritoneal shunt system: A case report

Resumen | Las alteraciones visuales de origen neurológico en los niños tienen diversas causas, algunas reversibles y otras no. La hidrocefalia es una de las más comunes e importantes, ya que puede producir deficiencias permanentes. Las causas de la hidrocefalia son variadas; entre las principales está la hemorragia intraventricular, generalmente debida al sangrado de la matriz germinal, el cual es muy común en recién nacidos prematuros. Se presenta el caso clínico de una paciente prematura con parálisis cerebral infantil, hemorragia intraventricular e hidrocefalia, producto de un embarazo múltiple, que presentó atrofia óptica en la infancia secundaria a la disfunción del sistema de derivación ventrículo-peritoneal. Durante su rehabilitación y tratamiento, ha recibido sesiones de neurorrehabilitación que le han permitido mejorar su agudeza y capacidad visual. Se comparó el caso de la paciente con algunos similares para establecer las semejanzas y las diferencias entre los cuadros clínicos presentados y la importancia del tipo de tratamiento médico utilizado en el curso de recuperación de la capacidad visual.

Abstract | Neurological visual impairments in children have multiple causes, some of them reversible while others are not. Hydrocephalus is one of the most important and common ones as it can result in permanent impairment. There are multiple causes of hydrocephalus, intraventricular hemorrhage being the main one. This generally occurs when the germinal matrix bleeds and is very common in preterm newborns. We present the clinical case of a patient with cerebral palsy, intraventricular hemorrhage, and hydrocephalus as a result of a preterm multiple pregnancy who developed optic atrophy during childhood secondary to ventricle-peritoneal shunt dysfunction. During the rehabilitation and treatment period, she received neurorehabilitation sessions, which improved her visual acuity and capacity. We found similarities and differences with other cases and we confirmed the importance of the treatment chosen for the recovery of visual capacity.

Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia.

Ophthalmological abnormalities may occur in specific subtypes of hereditary spastic paraplegia (HSP) and in genetic diseases that present with spastic paraplegia mimicking HSP. These ophthalmological changes may precede the motor symptoms and include pigmentary retinal degeneration, ophthalmoplegia, optic atrophy, cataracts and nystagmus. Some ophthalmological abnormalities are more prevalent in specific forms of HSP. Considering that the diagnosis of HSP is usually difficult and complex, specific ophthalmological changes may guide the genetic testing. There are other genetic diseases such as autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), X-linked adrenoleukodystrophy and spastic paraplegia, optic atrophy and neuropathy (SPOAN) that may mimic HSP and also may present with specific ophthalmological changes. In this article, we review the main ophthalmological changes observed in patients with HSP and HSP-like disorders.

Síndrome de Wolfram - Diagnóstico clínico de condição rara multissistêmica / Wolfram syndrome - Clinical diagnosis of rare multisystemic condition

Resumo A Síndrome de Wolfram consiste em uma patologia neurodegenerativa de caráter genético, também conhecida pela sigla DIDMOAD que traduz os principais achados dessa doença, Diabetes Insipidus, Diabetes Mellitus, Atrofia Óptica e Surdez. O artigo visa relatar ocaso de um paciente diagnosticado clinicamente com essa síndrome em um ambulatório geral de oftalmologia. Tendo em vistaque os pacientes portadores dessa alteração genética apresentam mais de um par craniano afetado e quadro clínico sem históricode meningite ou outras alterações neurológicas, tem-se que pensar em alterações raras, como é o caso dessa síndrome. A partir dodiagnóstico, aplicou-se o questionário WRUS em consulta, o qual permitiu a comparação do paciente abordado com dados obtidosinternacionalmente disponíveis na literatura.

Abstract Wolfram Syndrome consists of a neurodegenerative pathology of genetic character, also known by the acronym DIDMOAD that translates the main findings of this disease, Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness. The article report the case of a patient diagnosed clinically with this syndrome in a general ophthalmology out patient clinic. Considering that patients with this genetic alteration have more than one cranial nerve affected by the disease and clinical history without meningitis or other neurological alterations, one has to think about rare alterations, as is the case with this syndrome. From the diagnosis, the WRUS questionnaire was applied in consultation, which all owed the comparation of the patient with concepts obtained internationally available in the literature.

Motor impairment in a rare form of spastic paraplegia (Spoan syndrome): a 10-year follow-up.

BACKGROUND: Spastic paraplegia, optic atrophy and neuropathy (Spoan syndrome) is an autosomal recessive disease with approximately 70 cases recorded in Brazil and Egypt. METHODS: This is a prospective longitudinal study performed with 47 patients affected with Spoan syndrome of seven communities of Rio Grande do Norte (Brazil) to investigate changes in motor function based on comparative data obtained from a 10-year follow-up. RESULTS: The mean age of the participants was 47.21 ± 12.42 years old, and the mean age at loss of ambulation and hand function were 10.78 ± 5.55 and 33.58 ± 17.47 years old, respectively. Spearman's correlation analysis between the score on the Modified Barthel Index and the investigated variables evidenced statistical significance for age (p < 0.001) and right- and left-hand grip strength (p = 0.042 and p = 0.021, respectively). Statistical significance was not evidenced for the remainder of the variables, including age at onset of symptoms (p = 0.634), age at loss of ambulation (p = 0.664) and age at loss of hand function (p = 0.118). CONCLUSIONS: Our analysis allows asserting that the participants exhibited slight dependence until age 35. The greatest losses occurred from ages 35 to 41, and starting at 50, practically all patients become completely dependent. These findings are relevant for determining the prognosis as well as suitable treatment, rehabilitation and assistive technology for these individuals.

[Extension of TORCH spectrum in ophthalmology: congenital Zika, case report]. / Ampliación del espectro TORCH en oftalmología: Zika congénito, reporte de un caso.

BACKGROUND: Zika is a flavivirus that can be transmitted transplacentally. Eye abnormalities have been reported in 70% of Zika cases, and 41.7% of them can occur in the absence of microcephaly. The most common ocular abnormalities are macular atrophy, optic atrophy and chorioretinal coloboma. The objective was to report the case of eye disorders associated with Zika, acquired transplacentally, despite negative results for TORCH, and serology and PCR analyses for Zika. CLINICAL CASE: 9-month-old female patient, born in Chiapas, Mexico, brought to an ophthalmologic evaluation because she did not follow objects. As family background patient's mother had Zika, confirmed serologically at 9 weeks gestation. Physical examination revealed microcephaly, redundant skin on neck, joint stiffness and delayed psychomotor development. Ophthalmological examination revealed in right eye atrophy of the optic nerve, and left eye with exotropia, macular scar and optic nerve aplasia. TORCH profile and serology and PCR for Zika were negative. CONCLUSIONS: Despite the negative serology for Zika, given the history of pregnancy and the pre and post-natal clinical manifestations, diagnosis of embryopathy secondary to Zika infection with optic nerve aplasia, chorioretinal atrophy, macular scar, microcephaly and global neurodevelopmental delay was made.

INTRODUCCIÓN: el Zika es un flavivirus que puede ser transmitido de forma transplacentaria. Las anomalías oculares han sido reportadas en un 70% de los casos y se ha visto que 41.7% de ellas pueden ocurrir en ausencia de microcefalia. Las alteraciones oculares más comunes son: atrofia macular, atrofia óptica y coloboma coriorretiniano. El objetivo de este estudio fue reportar un caso de alteraciones oculares asociadas a Zika, adquirido de forma transplacentaria, a pesar de los resultados negativos para el perfil TORCH y Zika de los análisis de serología y PCR. CASO CLÍNICO: paciente femenina de nueve meses de edad, originaria de Chiapas, México, traída a revisión oftalmológica porque no seguía objetos. Como antecedentes, la paciente tenía madre con diagnóstico de Zika confirmado serológicamente a las nueve semanas de gestación. A la exploración física se encontró microcefalia, piel redundante en cuello, rigidez articular y retraso en el desarrollo psicomotor. A la exploración oftalmológica fueron evidentes atrofia del nervio óptico de ojo derecho, ojo izquierdo con exotropía, cicatriz macular y aplasia del nervio óptico. Tanto el perfil TORCH como la serología y la PCR para Zika fueron negativos. CONCLUSIONES: a pesar de la serología negativa para Zika, dados los antecedentes de la gestación y las manifestaciones clínicas pre y postnatales se integró el diagnóstico de embriopatía secundaria a infección por Zika con aplasia del nervio óptico, atrofia coriorretiniana, cicatriz macular, microcefalia y retraso global del neurodesarrollo.

Acute visual loss and optic disc edema followed by optic atrophy in two cases with deeply buried optic disc drusen: a mimicker of atypical optic neuritis.

BACKGROUND: Sudden visual loss and optic disc edema caused by optic neuritis (ON) is usually followed by significant visual recovery. However, little or no recovery occurs when the loss is caused by atypical ON, especially in patients with neuromyelitis optica (NMO). Optic disc drusen (ODD) is a cause of pseudo optic disc edema and may be a predisposing factor for non-arteritic anterior ischemic optic neuropathy (NAION), thereby mimicking atypical ON. In such cases, if globular concretions are seen protruding from the disc substance, ODD may be suspected. The purpose of this paper is to describe two patients with acute visual loss followed by optic disc atrophy initially labeled as atypical ON. Though not suspected on clinical examination, optical coherence tomography (OCT) revealed deeply buried ODD as a predisposing factor for NAION. CASE PRESENTATIONS: Case 1: A 48-year-old woman had bilateral sequential visual loss associated with optic disc edema. Despite treatment, vision did not improve and severe disc pallor ensued. Atypical ON was suspected. Eventually, she was started on immunosuppressant therapy based on a tentative diagnosis of NMO-spectrum disorder. On examination 5 years later, only severe optic disc pallor was observed, but OCT radial B-scans showed ovoid hyporeflective areas in the retrolaminar region of both eyes, compatible with ODD; this led to a diagnosis of NAION and deeply buried ODD. Case 2. A 35-year-old woman with suspicion of ON in the left eye and a history of previous atypical ON in the right eye was referred for neuro-ophthalmic examination which revealed diffuse optic disc pallor and a dense arcuate visual field defect in the right eye. OCT B-scans passing through the disc showed large ovoid areas of reduced reflectivity in the retrolaminar region of the optic disc in the right eye. These findings helped confirm the diagnosis of NAION in one eye, with deeply buried ODD as predisposing factor. CONCLUSIONS: Deeply buried ODD may be associated with NAION causing irreversible visual loss and optic disc pallor, a condition easily mistaken for atypical ON. Awareness of such occurrence is important to avoid unnecessary testing and minimize the risk of mismanagement.

A novel complex neurological phenotype due to a homozygous mutation in FDX2.

Defects in iron-sulphur [Fe-S] cluster biogenesis are increasingly recognized as causing neurological disease. Mutations in a number of genes that encode proteins involved in mitochondrial [Fe-S] protein assembly lead to complex neurological phenotypes. One class of proteins essential in the early cluster assembly are ferredoxins. FDX2 is ubiquitously expressed and is essential in the de novo formation of [2Fe-2S] clusters in humans. We describe and genetically define a novel complex neurological syndrome identified in two Brazilian families, with a novel homozygous mutation in FDX2. Patients were clinically evaluated, underwent MRI, nerve conduction studies, EMG and muscle biopsy. To define the genetic aetiology, a combination of homozygosity mapping and whole exome sequencing was performed. We identified six patients from two apparently unrelated families with autosomal recessive inheritance of a complex neurological phenotype involving optic atrophy and nystagmus developing by age 3, followed by myopathy and recurrent episodes of cramps, myalgia and muscle weakness in the first or second decade of life. Sensory-motor axonal neuropathy led to progressive distal weakness. MRI disclosed a reversible or partially reversible leukoencephalopathy. Muscle biopsy demonstrated an unusual pattern of regional succinate dehydrogenase and cytochrome c oxidase deficiency with iron accumulation. The phenotype was mapped in both families to the same homozygous missense mutation in FDX2 (c.431C > T, p.P144L). The deleterious effect of the mutation was validated by real-time reverse transcription polymerase chain reaction and western blot analysis, which demonstrated normal expression of FDX2 mRNA but severely reduced expression of FDX2 protein in muscle tissue. This study describes a novel complex neurological phenotype with unusual MRI and muscle biopsy features, conclusively mapped to a mutation in FDX2, which encodes a ubiquitously expressed mitochondrial ferredoxin essential for early [Fe-S] cluster biogenesis.

Perinatal Chikungunya Virus-associated Encephalitis Leading to Postnatal-Onset Microcephaly and Optic Atrophy.

Chikungunya virus is capable of affecting the nervous system of children and adults. We describe a case of sepsis and encephalitis triggered by this agent in a newborn whose mother developed symptoms of acute infection 2 days before delivery. Consequently, the infant had severe encephalitis that evolved with postnatal-onset microcephaly, bilateral optic atrophy, epilepsy and cerebral palsy.

Diabetes mellitus and optic atrophy: study of the Wolfram syndrome / Diabetes mellitus y atrofia óptica: estudio del síndrome de Wolfram

Background: Wolfram syndrome (WS), also known by the acronym DIDMOAD, is a rare and progresive hereditary disease of autosomal recessive inheritance which minimum ascertainment diagnostic criteria are the occurrence together of diabetes mellitus and optic atrophy before 15 years of age. Objective: To describe the clinical, biochemical and molecular profile of WS in a tertiary care hospital in Mexico. Materials and Methods: We reviewed patients records who fulfill the minimum ascertainment diagnostic criteria of WS presenting between January 1987 and May 2015 in a tertiary care hospital in Mexico. Results: Five patients fulfill the inclusion criteria (three male and two female). Diabetes mellitus was the first manifestation of the syndrome in all of them, with a mean age at diagnosis of 5.8 ± 2.71 years, while the WS diagnosis was established at a mean age of 15.8 ± 8.37 years. All the patients had optic atrophy and two of them presented with the complete DIDMOAD spectrum. We found new associations with autoimmune hepatitis and testicular cancer. Conclusions: This study shows the variability of clinical presentation of WS, as well as two new associations.

Antecedentes: El síndrome de Wolfram (SW), también conocido por el acrónimo DIDMOAD, es una enfermedad hereditaria rara y progresiva, de transmisión autosómica recesiva, cuyos criterios diagnósticos mínimos son diabetes mellitus y atrofia óptica antes de los 15 años de edad. Objetivo: Describir la presentación clínica, bioquímica y molecular del SW en un hospital de tercer nivel en México. Material y Métodos: Se revisaron los expedientes de pacientes que cumplían con criterios diagnósticos clínicos mínimos de SW atendidos entre enero de 1987 y mayo de 2015 en un hospital de tercer nivel en México. Resultados: Cinco pacientes cumplieron con los criterios de inclusión (tres hombres y dos mujeres). La diabetes mellitus fue la primera manifestación del síndrome en todos ellos, con una media de edad al diagnóstico de 5.8 ± 2.71 años, mientras que el diagnóstico del SW se estableció en promedio a los 15.8 ± 8.37 años. Todos los pacientes tenían atrofia óptica y dos presentaron el espectro DIDMOAD completo. Se describen nuevas asociaciones con hepatitis autoinmunitaria y cáncer de testículo. Conclusiones: El presente estudio muestra la variabilidad de presentación clínica del SW y dos asociaciones no descritas previamente.

Síndrome GAPO, a propósito de un caso / GAPO syndrome: case report

El síndrome GAPO es una rara enfermedad autosómica recesiva caracterizada por retraso en el crecimiento, alopecia, pseudoanodoncia y atrofia óptica. Se han descrito mutaciones en el gen ANTXR1 como origen etiológico. Presenta afectación de múltiples aparatos, por lo que requiere un manejo multidisciplinar para lograr su adecuado tratamiento.

GAPO syndrome is a rare autosomal recessive disease characterized by growth retardation, alopecia, pseudoanodontia and optic atrophy. Gene alterations in the ANTXR1 gene have been reported to be causative of this disorder. Abnormalities of diverse organs and systems have been described. A multidisciplinary management to achieve an adequate treatment is required.

Caracterización de una población con discapacidad visual (baja visión y ceguera) atendida en dos instituciones prestadoras de salud de Medellín / Characterization of a population with visual disabilities (low vision and blindness) attended in two health institutions from Medellín / Caracterização de uma população com incapacidade visual (baixa visão e cegueira) atendida em duas instituições prestadoras de saúde de Medellín

Objetivo: caracterizar, en los ámbitos clínico y sociodemográfico, una población de pacientes con discapacidad visual atendidos en dos instituciones de salud de la ciudad de Medellín (departamento de Antioquia/Colombia), con énfasis en la etiología del déficit visual irreversible. Metodología: estudio observacional descriptivo. Estudio macro sobre deficiencias visuales unilaterales y bilaterales en 1 742 registros de historias clínicas para identificar pacientes con baja visión o ceguera. Aplicación de un formato de investigación orientado a validar los pacientes con discapacidad visual y se seleccionaron 107 historias clínicas. Resultados: el 56.6% presenta discapacidad visual tipo baja visión y el 43.4% discapacidad visual tipo ceguera. El déficit visual responsable de la discapacidad visual fue del 39% por causas oftalmológicas, 20% por alteraciones neuro-oftalmológicas y 17% por trastornos neurológicos de cortezas visuales. Además de la agudeza visual, se encontraron otras deficiencias de la función visual: atrofia óptica, alteración electrofisiológica de la conducción visual y encefalomalacia en cortezas visuales. El 82% de los pacientes tiene al menos una comorbilidad no oftalmológica. Conclusiones: es fundamental un adecuado registro de las características biológicas, sociales, psicológicas y de las actividades de rehabilitación de los pacientes con baja visión y ceguera, para entender en forma integral no sólo la discapacidad sino el impacto que produce.

Objective: to characterize the clinical and socio-demographical characteristics of a population of patients with visual impairment attended at two health institutions in Medellín (Antioquia, Colombia), with an emphasis on the etiology of irreversible vision loss. Methodology: Observational, descriptive study of unilateral and bilateral visual impairment in 1 742 medical records to identify patients with low vision or blindness. A research form was used to validate patients with visual impairment, and 107 medical records were selected. Results: 56.6% presented low vision and 43.4% presented blindness. Vision loss was due to ophthalmic causes in 39% of cases, 20% were caused by neuro-ophthalmic alterations and 17% by neurological disorders of the visual cortex. In addition to visual acuity, other visual impairments were found, such as optic atrophy, electrophysiological alteration of the visual pathway, and encephalomalacia in visual cortices. 82% of patients had at least one nonophthalmic comorbidity. Conclusions: Adequate registration of rehabilitation activity, biological, social, and psychological characteristics of patients with low vision and blindness is essential in order to fully understand both the impairment and its impact.

Objetivo: caracterizar, nos âmbitos clínico e sócio-demográfico, uma população de pacientes com incapacidade visual atendidos em duas instituições de saúde da cidade de Medellín (departamento de Antioquia/Colômbia), com énfase na etiologia do déficit visual irreversível. Metodologia: estudo observacional descritivo. Estudo macro sobre deficiências visuais unilaterais e bilaterais em 1 742 registros de histórias clínicas para identificar pacientes com baixa visão ou cegueira. Aplicação de um formato de investigação orientado a validar os pacientes com incapacidade visual e se selecionaram 107 histórias clínicas. Resultados: 56.6% apresenta incapacidade visual tipo baixa visão e 43.4% incapacidade visual tipo cegueira. O déficit visual responsável da incapacidade visual foi de 39% por causas oftalmológicas, 20% por alterações neuro-oftalmológicas e 17% por transtornos neurológicos de córtex visual. Ademais da agudeza visual, se encontraram outras deficiências da função visual: atrofia óptica, alteração eletrofisiológica da condução visual e encefalomalácia em córtex visual. 82% dos pacientes têm pelo menos uma comorbilidade não oftalmológica. Conclusões: é fundamental um adequado registro das características biológicas, sociais, psicológicas e das atividades de reabilitação dos pacientes com baixa visão e cegueira, para entender em forma integral não só a incapacidade senão o impacto que produz.

Atrofia coroidea relacionada con la edad en pacientes hispanos: serie de casos / Age-related choroidal atrophy in hispanics patients: a case series

Propósito: describir los hallazgos y la medición del grosor coroideo subfoveal utilizando tomografía óptica coherente de imagen de profundidad mejorada (EDI OCT), en paciente hispanos con sospecha clínica de atrofia coroidea relacionada con la edad (ARCA). Métodos: estudio descriptivo y trasversal en 17 pacientes con impresión clínica de ARCA, basados en: disminución de la agudeza visual de reciente aparición, alteraciones pigmentarias en la macula, apariencia de fondo de ojo atigrado y atrofia peripapilar a pesar de no ser miope. A todos se les realizó examen oftalmológico completo, que incluía: Agudeza visual mejor corregida (BCVA), biomicroscopía con lámpara de hendidura y evaluación del fondo de ojo bajo dilatación. A estos pacientes se les realizó fotografía digital del fondo de ojo y tomografía óptica coherente de imagen de profundidad mejorada (EDI OCT). Se realizó un total de 5 mediciones del grosor coroideo en el área macular en cada ojo. Resultados: se evaluaron 26 ojos de 14 pacientes, con una edad media de 70,86 años (DS± 8,46 años). El 57.14% fueron mujeres y el 42.86% hombres. El promedio de la agudeza visual fue 20/47 (0,38 LogMAR), el 80.2% presentaron manifestación binocular. La media del grosor coroideo fue 119,53 µm (DS±49,68µm). No hubo correlación estadísticamente signifi cativa entre la BCVA y grosor coroideo (P=0.407). Conclusión: la atrofia coroidea relacionada con la edad es una condición que puede presentarse en pacientes hispanos de edad avanzada. Afecta igualmente a hombres y mujeres, es usualmente bilateral y el grado de adelgazamiento de la coroides no predice la agudeza visual final.

Purpose: to describe the findings and measure the subfoveal choroidal thickness with Enhanced Depth Imaging (EDI) OCT in hispanics subjects with clinical impression of age-related choroidal atrophy (ARCA). Methods: a descriptive and cross-sectional study of 17 subjects with clinical impression of ARCA: based on recently decreased visual acuity, pigmentary alterations in the macula, a tessellated fundoscopic appearance, and peripapillary atrophy despite being not myopic. All patients had a comprehensive ocular examination, including BCVA, biomicroscopic and fundus examination. They underwent color fundus photography and EDI OCT. A total of 5 measurements were took of each eye. Results: twenty six eyes were included from 14 patients, with a mean age 70,86 years (SD ± 8,46 years). The 57,14% were female and 42.86% male. The mean visual acuity was 20/47 (0,38 LogMAR Equivalent), 80.2% had bilateral disease. The mean choroidal thickness was 119,53 µm (SD ± 49,68 µm). There was no statistically significant correlation between BCVA and choroidal thickness (p =0,407). Conclusions: the ARCA is a condition that can be present in elderly Hispanics subjects. Affects equally male and female, it is usually bilateral and the degree of choroidal thinning does not predict the final visual acuity.