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Enfermedades asociadas al cristalino por Dra. Karen Sanabria

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Enfermedades asociadas al cristalino por Dra. Karen Sanabria

  1. 1. Dra. Karen M. Sanabria S. Dr. Nelson Hernández Maldonado Profesor: Dr. Neil Ramírez
  2. 2. PATOLOGIA DEL CRISTALINO II: Enfermedades que cursan con Anomalías del Cristalino y Cataratas.
  3. 3. ENFERMEDADES QUE CURSAN CON ANOMALÍAS DEL CRISTALINO Y CATARATAS. <ul><li>DESÓRDENES METABÓLICOS </li></ul><ul><li>CATARATAS ASOCIADAS A ENFERMEDADES RENALES </li></ul><ul><li>CATARATAS ASOCIADAS A ENFERMEDADES DEL TEJIDO CONECTIVO Y ESQUELÉTICAS </li></ul>
  4. 4. <ul><li>HIPOGLICEMIA </li></ul><ul><li>GALACTOSEMIA </li></ul><ul><li>HIPOCALCEMIA </li></ul><ul><li>SDME. LOWE </li></ul><ul><li>HOMOCISTINURIA </li></ul>DESÓRDENES METABÓLICOS
  5. 5. HIPOGLICEMIA: Merck Manual of Diagnosis and Therapy. Simon and Schuster, Inc.;2001. National Organization for Rare Disorders U.S. National Library of Medicine
  6. 6. HIPOGLICEMIA <ul><li>Variantes: Idiopaticas, Neonatal y Cetonica. </li></ul><ul><li>Causas: </li></ul><ul><li>*Hiperinsulinismo </li></ul><ul><li>*Déficit de la disponibilidad de la glucosa. </li></ul><ul><li>*Embarazos complicados </li></ul><ul><li>* Hipoglucemia : 20 mgr % </li></ul>Merck Manual of Diagnosis and Therapy. Simon and Schuster, Inc.;2001. ( http://www.geocities.com ) National Organization for Rare Disorders U.S. National Library of Medicine
  7. 7. <ul><li>MANIFESTACIONES SISTÉMICAS: </li></ul><ul><li>Agudas: SNA- SNC </li></ul><ul><li>Crónicas: Desarrollo Psicomotor. </li></ul><ul><li>MANIFESTACIONES OCULARES: </li></ul><ul><li>Cataratas : bilaterales,> fr. Lamelar-Progresiva. </li></ul>
  8. 8. <ul><li>Diagnostico: </li></ul><ul><li>Antecedentes obstétricos-neonatales </li></ul><ul><li>Clínica </li></ul><ul><li>Paraclinicos </li></ul><ul><li>Tratamiento: </li></ul><ul><li>Dieta - Control </li></ul>Merck Manual of Diagnosis and Therapy. Simon and Schuster, Inc.;2001. National Organization for Rare Disorders U.S. National Library of Medicine
  9. 9. CATARATA LAMELAR http://www.atlasophthalmology.com/atlas/ 01/03/08.
  10. 11. GALACTOSEMIA Merck Manual of Diagnosis and Therapy. Simon and Schuster, Inc.;2001. National Organization for Rare Disorders U.S. National Library of Medicine
  11. 12. GALACTOSEMIA <ul><li>CONCEPTO: Es un desorden en el metabolismos de los carbohidratos , Galactosa. </li></ul><ul><li>RAZA: Todas, en especial la negra. </li></ul><ul><li>SEXO: Ambos. </li></ul><ul><li>EDAD: Desde el nacimiento. </li></ul>Merck Manual of Diagnosis and Therapy. Simon and Schuster, Inc.;2001. National Organization for Rare Disorders U.S. National Library of Medicine
  12. 13. GALACTOSEMIA NADPH NADP GAL GALACTICOL ALDOSA REDUCTASA (OXIDACIÓN) GALACTOQUINASA +ATP GAL 1-P + UDP GLUC GLUC 1-P + UDP GAL GAL 1 P URIDIL TRANSFERASA (GALT) <ul><li>GALT Y GALACTOQUINASA SE ENCUENTRAN EN HÍGADO Y ERITROCITOS </li></ul>www.geocistes.com 06/03/08
  13. 14. MANIFESTACIONES SISTÉMICAS: Forma Leve : alimentacion, vomitos, peso. Forma Severa: S.N.C-Higado-Riñon-Cristalino MANIFESTACIONES OCULARES: CATARATA: Un 75 % de estos pacientes. De aparición muy tempranamente. Inicialmente: signo de gota de aceite hasta cataratas lamelares y difusas. Merck Manual of Diagnosis and Therapy. Simon and Schuster, Inc.;2001. National Organization for Rare Disorders U.S. National Library of Medicine
  14. 15. <ul><li>DIAGNÓSTICO: por laboratorio. </li></ul><ul><li>Sustancias reductoras en orina. </li></ul><ul><li>Determinación cuantitativa de niveles de GALT y Galactoquinasa. </li></ul><ul><li>Pruebas de funcionalismo hepático. </li></ul><ul><li>Proteínas en orina: albúmina y aminoácidos. </li></ul><ul><li>TRATAMIENTO: </li></ul><ul><li>Dieta . </li></ul><ul><li>Las cataratas son generalmente reversibles. </li></ul>Merck Manual of Diagnosis and Therapy. Simon and Schuster, Inc.;2001. National Organization for Rare Disorders U.S. National Library of Medicine
  15. 16. GALACTOSEMIA: GOTA DE ACEITE Fuente: Dra. Solherny Belouche.Hospital Miguel Pérez Carreño
  16. 17. Fuente: Dra. Solherny Belouche.Hospital Miguel Pérez Carreño GALACTOSEMIA: GOTA DE ACEITE
  17. 18. CATARATA CORTICAL ASOCIADA CON GALACTOSEMIA ( http://www.geocities.com )
  18. 19. CATARATA CORTICAL ASOCIADA CON GALACTOSEMIA ( http://www.geocities.com )
  19. 20. HIPOCALCEMIA
  20. 21. <ul><li>Ca: < 8.5 mg/dl en niños, < de 8.0 mg/dl en neonatos, < de 7.5 mg/dl en pretérmino. </li></ul><ul><li>El Calcio es uno de los minerales más abundantes del organismo: 99% en hueso y 1% en plasma. Está regulado por PTH, Vitamina D, niveles de Mg y Fósforo, funcionalismo hepático y renal. </li></ul>Merck Manual of Diagnosis and Therapy. Simon and Schuster, Inc.;2001. National Organization for Rare Disorders U.S. National Library of Medicine
  21. 22. <ul><li>F actores de riesgos: prematuridad, bajo peso, hijo de madre diabética, hiperfosfatemia exógena (lactancia artificial). </li></ul><ul><li>Manifestaciones Clínicas: </li></ul><ul><li>asintomático o clínica musculares o del SNC. </li></ul>Merck Manual of Diagnosis and Therapy. Simon and Schuster, Inc.;2001. National Organization for Rare Disorders U.S. National Library of Medicine
  22. 23. Diagnostico: Niveles de Ca iónico y sérico. Magnesio, Fósforo, Na y K. Ph. Funcionalismo renal. Niveles de Calcio en orina. Tratamiento: Dieta Control Merck Manual of Diagnosis and Therapy. Simon and Schuster, Inc.;2001. National Organization for Rare Disorders U.S. National Library of Medicine
  23. 24. CATARATA EN ARBOL DE NAVIDAD
  24. 25. HOMOCISTINURIA
  25. 26. <ul><li>Concepto: Trastorno metabólico por déficit de la enzima cistationina-sintetasa. </li></ul><ul><li>La homocistina  metionina </li></ul><ul><li>Metionina: precursor cisteina-cistina  Musculatura-Esqueleto. </li></ul><ul><li>Enfermedad autosomica recesiva. </li></ul><ul><li>La H omocistinuria ,ocurre en aprox. 1 en 100,000 personas. </li></ul>Merck Manual of Diagnosis and Therapy. Simon and Schuster, Inc.;2001. National Organization for Rare Disorders U.S. National Library of Medicine
  26. 27. <ul><li>Manifestaciones Sistémicas. </li></ul><ul><li>Manifestaciones oftalmológicas : </li></ul><ul><li>*Ectopia del cristalino: inferonasal. </li></ul><ul><li>*Glaucoma secundario de ángulo cerrado por bloqueo pupilar. </li></ul><ul><li>*Iridodonesis secundaria </li></ul><ul><li>*Cataratas. </li></ul>Merck Manual of Diagnosis and Therapy. Simon and Schuster, Inc.;2001. National Organization for Rare Disorders U.S. National Library of Medicine
  27. 28. DIAGNOSTICO *Orina. *Cromatografía en papel o la electroforesis de alto voltaje. *Exámenes de sangre para confirmar el diagnóstico . *Radiografías. *Ex. Oftalmológico. TRATAMIENTO: Vitamina B6- Acido Fólico-Baja dieta en metionina, Cisteina,Frutas,verduras. Merck Manual of Diagnosis and Therapy. Simon and Schuster, Inc.;2001. National Organization for Rare Disorders U.S. National Library of Medicine
  28. 29. SUBLUXACION INFERIOR ( http://www.geocities.com )
  29. 30. Merck Manual of Diagnosis and Therapy. Simon and Schuster, Inc.;2001. National Organization for Rare Disorders U.S. National Library of Medicine
  30. 31. CATARATAS ASOCIADAS A ENFERMEDADES RENALES SINDROME DE LOWE SINDROME DE ALPORT
  31. 32. SINDROME DE LOWE
  32. 33. <ul><li>También llamado síndrome oculo- cerebro renal. </li></ul><ul><li>Desorden metabólico de herencia ligada al sexo, gen Xq25-26. </li></ul><ul><li>La mujer es portadora y solo exhibe las anomalías oculares. </li></ul>http://www.atlasophthalmology.com . Revisado 05/03/2008
  33. 34. <ul><li>INCIDENCIA: USA 1: 200.000 nac. vivos. </li></ul><ul><li>Cursan con clínica en Riñón, SNC. </li></ul><ul><li>Fascies: frente prominente, hundimiento bitemporal, mejillas abombadas, pliegue epicántico. </li></ul>http://www.atlasophthalmology.com . Revisado 05/03/2008
  34. 35. http://www.atlasophthalmology.com/atlas/photo.jsf;jsessionid . 01/03/08.
  35. 36. http://www.atlasophthalmology.com/atlas/photo.jsf;jsessionid . 01/03/08.
  36. 37. <ul><li>Manifestaciones oculares: </li></ul><ul><li>*Leucocoria </li></ul><ul><li>*Cristalino pequeño y discoide. </li></ul><ul><li>*Cápsula anterior engrosada </li></ul><ul><li>*Excrecencias en la cápsula posterior. </li></ul><ul><li>*Glaucoma: 50-60% a los 5 años. </li></ul><ul><li>*Pupilas mióticas  hipoplasia del músculo dilatador. </li></ul><ul><li>*Nistagmus es usual. </li></ul>http://www.atlasophthalmology.com . Revisado 05/03/2008
  37. 38. SINDROME DE ALPORT
  38. 39. <ul><li>Herencia ligada a X 85%. Hay transmisión autosómica recesiva, pero es poco frecuente. </li></ul><ul><li>Órganos blanco: riñón, oído, ojo, SNC. </li></ul><ul><li>Colágeno tipo IV-A5, que forma parte importante de las membranas básales. </li></ul><ul><li>INCIDENCIA: USA 1:5000 nac vivos. En 2.7% de los niños con IRCT. </li></ul>
  39. 40. MANIFESTACIONES SISTÉMICAS. MANIFESTACIONES OCULARES: Lenticono anterior: 25%.Bilateral Asociación: varón- miopía creciente. Se puede asociar a catarata subcapsular anterior. esferofaquia, lenticono posterior. Córnea : erosiones Retina. Charles Silberberg, D.O., Private Practice specializing in Nephrology, Affiliated with NY Medical College, Division of Nephrology, Valhalla, NY. Review provided by VeriMed Healthcare Network. Traducción y localización realizada por: DrTango, Inc. Sindrome de Alport
  40. 41. Diagnostico: <ul><li>Clínica: perdida audición-visión-color anormal orina </li></ul><ul><li>Examen paraclinicos </li></ul><ul><li>Ex. Oftalmologico-ORL </li></ul><ul><li>Biopsia renal. </li></ul><ul><li>Tratamiento: </li></ul><ul><li>Control Presión arterial </li></ul><ul><li>Corrección Qx catarata </li></ul><ul><li>ORL </li></ul><ul><li>Otros sintomas. </li></ul>Charles Silberberg, D.O., Private Practice specializing in Nephrology, Affiliated with NY Medical College, Division of Nephrology, Valhalla, NY. Review provided by VeriMed Healthcare Network. Traducción y localización realizada por: DrTango, Inc. Sindrome de Alport
  41. 42. LENTICONO ANTERIOR http://www.atlasophthalmology.com/atlas/photo.jsf;jsessionid . 01/03/08.
  42. 43. RETINOPATÍA EN PUNTO Y MANCHA http://www.atlasophthalmology.com/atlas/photo.jsf;jsessionid . 01/03/08.
  43. 44. LENTICONO POSTERIOR. (SIGNO DE LA GOTA DE ACEITE) http://www.atlasophthalmology.com/atlas/photo.jsf;jsessionid . 01/03/08.
  44. 45. CATARATA CORTICAL PUNCTATA EN UNA PORTADORA http://www.atlasophthalmology.com/atlas/photo.jsf;jsessionid . 01/03/08.
  45. 46. CATARATAS ASOCIADAS A ENFERMEDADES DEL TEJIDO CONECTIVO Y ESQUELÉTICAS SINDROME DE MARFAN
  46. 47. <ul><li>Enfermedad hereditaria dominante de expresividad variable. </li></ul><ul><li>Defecto en el gen de la FIBRILINA localizado en 15q21 </li></ul><ul><li>INCIDENCIA: USA 1:10.000 nac. vivos. Es uno de los más frecuentes. </li></ul><ul><li>RAZA: cualquiera. </li></ul><ul><li>SEXO: no hay predilección. </li></ul>http://www.hiperlaxitud.com
  47. 48. MANIFESTACIONES SISTEMICAS. MANIFESTACIONES OCULARES: *Ectopia lentis: 50- 80%. Usualmente lujación súpero temporal, bilateral y no progresiva. *Catarata nuclear en paciente mayores de 50 años. *Glaucoma por bloqueo pupilar. *Córnea plana. *Desprendimiento de Retina. http://www.hiperlaxitud.com
  48. 49. SINDROME DE MARFAN http://www.atlasophthalmology.com/atlas/photo.jsf;jsessionid . 01/03/08. ECTOPIA LENTIS
  49. 50. http://www.atlasophthalmology.com/atlas/photo.jsf;jsessionid . 01/03/08.
  50. 51. SÍNDROME DE MARFAN http://www.atlasophthalmology.com/atlas/photo.jsf;jsessionid . 01/03/08.
  51. 52. http://www.atlasophthalmology.com/atlas/photo.jsf;jsessionid . 01/03/08.
  52. 53. SÍNDROME DE MARFAN ECTOPIA LENTIS http://www.atlasophthalmology.com/atlas/photo.jsf;jsessionid . 01/03/08.
  53. 54. Evereklioglu C, Hepsen IF, Er H. Weill-Marchesani syndromein three generations. Eye 1999; 13: 773-777.
  54. 55. <ul><li>Condición hereditaria, que puede ser dominante o recesiva. </li></ul><ul><li>MANIFESTACIONES SISTÉMICAS: </li></ul><ul><li>Son braquimórficos, de baja estatura, manos cortas y anchas. No hay retardo mental. </li></ul>SINDROME DE WEILL MARCHESANI
  55. 57. Miembros de la familia del probando, en la que los tres hermanos situados a su derecha están afectos.ARCH SOC ESP OFTALMOL 2006; 81: 349-352
  56. 58. MANIFESTACIONES OCULARES <ul><li>CRISTALINO. </li></ul><ul><li>Microesferofaquia: casi constante. </li></ul><ul><li>Errores refractivos elevados. </li></ul><ul><li>Ectopia lentis :superotemporal </li></ul><ul><li>Luxación completa anterior </li></ul><ul><li>Cataratas. </li></ul><ul><li>Glaucoma por bloqueo pupilar o por anormalidades en el ángulo. </li></ul><ul><li>Microcórnea o megalocórnea. </li></ul>
  57. 59. SINDROME DE WEILL MARCHESANI MICROESFEROFAQUIA http://www.atlasophthalmology.com/atlas/photo.jsf;jsessionid . 01/03/08.
  58. 60. MICROESFEROFAQUIA http://www.atlasophthalmology.com/atlas/photo.jsf;jsessionid . 01/03/08.
  59. 61. ECTOPIA LENTIS http://www.atlasophthalmology.com/atlas/photo.jsf;jsessionid . 01/03/08. Ectopia lentis
  60. 62. http://www.hiperlaxitud.com
  61. 64. <ul><li>Disgenesia del segmento anterior por clivaje anormal de la cámara anterior. </li></ul><ul><li>Parece tener un patrón hereditario por una mutación en el gen PAX6. </li></ul><ul><li>Hay dos tipos: Tipo 1: sin adherencia cristalino-corneal, y el Tipo 2 con adherencias, suele ser el que se acompaña de anomalías sistémicas. </li></ul>http://www.hiperlaxitud.com
  62. 65. MANIFESTACIONES OCULARES <ul><li>Bilaterales en un 80%. </li></ul><ul><li>opacidad corneal central o paracentral </li></ul><ul><li>adherencias entre el cristalino </li></ul><ul><li>Glaucoma: 90%. </li></ul><ul><li>Otras anomalías oculares: aniridia, coloboma de iris y coroides, atrofia del N.O. </li></ul>
  63. 66. ANOMALÍA DE PETERS http://www.atlasophthalmology.com/atlas/photo.jsf;jsessionid . 01/03/08.
  64. 68. <ul><li>Condición hereditaria del tejido conectivo de transmisión autosómica recesiva, aunque se han descrito casos de transmisión dominante y ligada al sexo. </li></ul><ul><li>Anormalidad del tejido conectivo que afecta la fuerza, estabilidad, elasticidad y propiedades curativas de los diferentes tejidos </li></ul>
  65. 69. MANIFESTACIONES SISTÉMICAS. Fuente: Dra. Solherny Belouche.Hospital Miguel Pérez Carreño
  66. 70. SÍNDROME DE EHLERS DANLOS Fuente: Dra. Solherny Belouche.Hospital Miguel Pérez Carreño
  67. 71. SÍNDROME DE EHLERS DANLOS Fuente: Dra. Solherny Belouche.Hospital Miguel Pérez Carreño
  68. 72. SÍNDROME DE EHLERS DANLOS
  69. 74. SINDROME DE DOWN Fuente: Dra. Solherny Belouche.Hospital Miguel Pérez Carreño
  70. 75. Fuente: Dra. Solherny Belouche.Hospital Miguel Pérez Carreño
  71. 76. MANIFESTACIONES OCULARES <ul><li>Pliegue epicántico, hendidura inclinada. 89%. </li></ul><ul><li>Infecciones recurrentes de superficie ocular: conjuntivitis, blefaritis (46%), chalazión, hordeolum. </li></ul><ul><li>Córnea: queratocono, queratoglobo 15%.. </li></ul>
  72. 77. <ul><li>Errores refractivos altos, más de 5 dioptrías: 27%. </li></ul><ul><li>Iris: Manchas de Brushfield. 90% </li></ul><ul><li>Cataratas 13%, otras series 60-80%. </li></ul><ul><li>Glaucoma: aparece en la infancia. </li></ul><ul><li>Estrabismo y nistagmus 43%. </li></ul><ul><li>Retina: anomalías vasculares </li></ul>
  73. 78. QUERATOCONO Fuente: Dra. Solherny Belouche.Hospital Miguel Pérez Carreño
  74. 79. MANCHAS DE BRUSHFIELD Fuente: Dra. Solherny Belouche.Hospital Miguel Pérez Carreño
  75. 80. CATARATA LAMELAR http://www.atlasophthalmology.com/atlas/photo.jsf;jsessionid . 01/03/08.
  76. 81. CATARATA SUTURAL http://www.atlasophthalmology.com/atlas/photo.jsf;jsessionid . 01/03/08.
  77. 82. CATARATA TOTAL http://www.atlasophthalmology.com/atlas/photo.jsf;jsessionid . 01/03/08.
  78. 84. <ul><li>Patología poco frecuente, con transmisión autosómica recesiva, que cursa con un defecto en la reparación del ADN. </li></ul><ul><li>Parecen normales al nacer. </li></ul>Síndrome de Cockayne
  79. 85. <ul><li>MANIFESTACIONES OCULARES . </li></ul><ul><li>Opacidades corneales. </li></ul><ul><li>Pupilas mioticas. </li></ul><ul><li>Cataratas. </li></ul><ul><li>Retinopatía en sal y pimienta </li></ul><ul><li>Atrofia óptica. </li></ul>
  80. 86. MUCHAS GRACIAS,POR SU ATENCION

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