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Enfoque práctico ante la sospecha de maculopatía

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Pediatric maculopathies are challenging specially at young ages. Clues to manage this patients are presented in this paper.

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Enfoque práctico ante la sospecha de maculopatía

  1. 1. NIÑOS CON BAJA VISIÓN QUE NO MEJORAN CON GAFAS ENFOQUE PRÁCTICO ANTE LA SOSPECHA DE MACULOPATÍAVII jornada nacional oftalmología pediátrica Jaume Català Mora Hospital Sant Joan de Déu. Esplugues de Llobregat. Barcelona
  2. 2. AnamnesisHistoria clínica Hemeralopia, Fotofobia, Visión próxima, Discriminación coloresAntecedentes médicos Prematuridad, Sufrimiento fetalAntecedentes familiares Exploración familiares. Árbol genético. Genética ClínicaAgudeza visual Comportamiento visualRefracción bajo cicloplejia
  3. 3. Sospecha patología fundoscópica Test de coloreswww.univie.ac.at/Vergl-www.univie.ac.at/ Vergl- Physiologie/colortest/colortestF-en.html#test Physiologie/ colortest/ colortestF- Campimetría Retinografía Angiografía Fluoresceínica Tomografía de Coherencia Óptica (OCT) Potenciales Evocados Visuales ERG fotópico y escotópico ElectroOculoGrama Biología Molecular
  4. 4. Pruebas electrofisiológicas Fishman GA, Birch DG, Holder GE, Brigell MG (eds). Electrophysiologic Testing in Disorders of theRetina, Optic Nerve, and Visual Pathway, 2nd ed. Ophthalmology Monograph 2. The Foundation of the American Academy of Ophthalmology: San Francisco, CA, 2001.
  5. 5. Potenciales Evocados Visuales (PEV)Registro del potencialen el córtex occipitala diferentes estímulosvisualesPEV flash/pattern apartir 6 m-1 aNo patognomónicode lesión del nervioóptico
  6. 6. PEV: valoración de la respuestaEstímulo lumínico (flash) Latencia Simetría de la respuesta Estudio global fibras nerviosasEstímulo estructurado(damero) Pequeño (15-20’) fóvea Grande (60-70’) parafóvea Amplitud, Latencia Valoración AV y estudio fibras nerviosas centrales
  7. 7. Electrorretinograma (ERG)Registro corneal de la respuestaeléctrica de la retina en masa a unestímulo luminoso difusoEvalúa la función de los bastones(escotópico) y de los conos (fotópico)
  8. 8. ERG flash Protocolo ISCEV: Escotópico/Fotópico > 10 aERG mesópico: flash blanco/flicker: desde 3-6m Repetir las pruebas a los 3 mesesOnda a Onda b Onda a N Onda bDisminución difusa o ERG negativo:abolición. Distrofias Retinosquisis ligada al X, retinianas. Ceguera congénita estacionaria nocturna
  9. 9. Electrooculograma (EOG)Es un registro del potencial dereposo entre la retina y la córnea,inducido por el movimiento ocularrespecto a los electrodos y quevaría según el nivel de iluminaciónde fondo.Evalúa la función del epiteliopigmentario (D) y de lossegmentos externos de losfotorreceptores (L)Coeficiente de Arden: Amplitud delpotencial con luz y oscuridadLP/DTDistrofia viteliformeNiños colaboradores a partir 10 a
  10. 10. Electrorretinograma multifocal (mfERG)Estimulaciónsimultánea retinianapara obtener unmapa topográficode la respuesta de30-50º centrales de laretina (densidad derespuesta)Niños colaboradores10 a
  11. 11. Biología molecular Ventajas: Diagnóstico preciso, pronóstico visual, identificación de portadores y consejo genético, futuras estrategias de tratamiento. Métodos. Secuenciación automática: costoso, sensibilidad limitada, falsos positivos (polimorfismos) Correlación fenotipo-genotipo Secuenciación mutaciones más frecuentes Microarrays o chips de enfermedadesKoenekoop RK et al. Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions. Clinical and Experimental Ophthalmology 2007; 35: 473–485
  12. 12. Biología molecularMaculopatía sin historia familiar:microchips diagnósticos Chip ABCA4: Enfermedad Stargardt 50-70% Chip LCA: Amaurosis congénita de Leber 60-70 % Chip Usher: Enfermedad Usher 25-48 % Chip RP (pendiente comercialización)Secuenciación automática: Retinosquisis ligada al X Maculopatías con antecedentes familiares, herencia conocida y disponibilidad muestras Goodwin P. Hereditary retinal disease. Current Opinion in Ophthalmology 2008;19:255–262
  13. 13. Clasificación distrofias maculares 1. Capas internas retina: 1. Retinosquisis juvenil ligada al X 2. Fotorreceptores: 1. Acromatopsia 2. Distrofia de conos 3. Distrofia combinada de conos-bastones y bastones-conos 4. Enfermedad de Stargardt 5. Amaurosis congénita de Leber 6. Ceguera Congénita Estacionaria Nocturna 3. Epitelio pigmentario de la retina: 1. Distrofia viteliforme 2. AlbinismoDeutman AF. Hoyng CB. Macular dystrophies. In: Ryan SJ. Retina. 3rd Ed. St Louis: Mosby, 2001; 1210-1257
  14. 14. ConclusionesHistoria clínica: Síntomas, antecedentesfamiliaresEstudio de fondo de ojo y retinografíaUtilidad OCTPruebas electrofisiológicas dirigidas ConfirmaciónGenética clínica: árbol genealógico. Consejo genéticoPapel biología molecularTerapia visual precoz (ONCE)
  15. 15. GRACIASwww.jaumecatala.com

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