{"id":157,"date":"2018-11-20T10:50:10","date_gmt":"2018-11-20T10:50:10","guid":{"rendered":"http:\/\/www.barnaclinic.com\/blog\/oftalmologia\/ca\/?p=157"},"modified":"2019-02-22T10:28:55","modified_gmt":"2019-02-22T10:28:55","slug":"glaucoma-hereditari-genetica-del-glaucoma","status":"publish","type":"post","link":"https:\/\/www.barnaclinic.com\/blog\/oftalmologia\/ca\/glaucoma-hereditari-genetica-del-glaucoma\/","title":{"rendered":"El glaucoma \u00e9s hereditari? Gen\u00e8tica del glaucoma"},"content":{"rendered":"

POST DEL DRA. ELENA MILLA<\/a><\/p>\n

El\u00a0glaucoma<\/strong><\/a>\u00a0\u00e9s un exemple t\u00edpic de\u00a0malaltia multifactorial\u00a0en la qual es necessita un substrat gen\u00e8tic o predisposici\u00f3 gen\u00e8tica sobre la qual actuen agents externs (t\u00f2xics, malalties, tractaments, h\u00e0bits de vida etc) i desencadenen l’aparici\u00f3 de la malaltia.<\/span>\u00a0Aix\u00ed doncs, podem dir que s\u00ed,\u00a0el glaucoma \u00e9s hereditari.<\/strong><\/span>\u00a0Forma part del grup de les malalties oculars que, en moltes ocasions, s’ha pogut constatar la seva transmissi\u00f3 entre membres d’una mateixa fam\u00edlia.<\/span>\u00a0Se sap que el fet de\u00a0tenir un familiar afectat de\u00a0glaucoma<\/a>\u00a0multiplica per deu el risc de desenvolupar aquesta malaltia.<\/strong><\/span><\/p>\n

\n

\"\"<\/a><\/h4>\n

“Podem dir que s\u00ed, el glaucoma \u00e9s hereditari (…) Tenir un familiar afecte de glaucoma multiplica per deu el risc de desenvolupar aquesta malaltia”<\/strong><\/span><\/h4>\n

Dra.\u00a0Elena Milla<\/strong><\/a><\/p><\/blockquote>\n

Quins gens causen el glaucoma?<\/strong><\/h2>\n

Es coneixen alguns\u00a0gens causants de glaucoma<\/strong>\u00a0que s\u00f3n responsables de l’aparici\u00f3 d’aquesta malaltia, sobretot en\u00a0casos cong\u00e8nits o juvenils de glaucoma<\/strong>\u00a0o en casos sindr\u00f2mics<\/a>\u00a0(associats a altres malalties com signes integrants de la mateixa entitat cl\u00ednica).<\/span><\/p>\n

En el cas del\u00a0glaucoma primari de l’adult<\/strong><\/a>\u00a0es troben mutacions (alteracions gen\u00e8tiques responsables de la malaltia) en molt poques ocasions.<\/span>\u00a0Per aquest motiu, actualment, s’estan duent a terme nombrosos estudis per descobrir quins gens el causen.<\/span><\/p>\n

Els gens m\u00e9s freq\u00fcentment associats al glaucoma s\u00f3n:\u00a0myocilina (MYOC)<\/a>\u00a0i\u00a0CYP1B1<\/a>.<\/strong><\/span><\/p>\n

 <\/p>\n

EL GEN MYOC I EL GLAUCOMA JUVENIL<\/strong><\/span><\/h2>\n

El\u00a0gen MYOC<\/strong>\u00a0s’ha associat al\u00a0glaucoma primari d’angle obert<\/a>\u00a0de l’adult<\/strong>\u00a0en un percentatge petit dels casos, per\u00f2 la seva implicaci\u00f3 \u00e9s major en el\u00a0glaucoma juvenil<\/a><\/strong>.<\/span>\u00a0Aquest gen causa la producci\u00f3 d’una prote\u00efna an\u00f2mala que s’acumula en les c\u00e8l\u00b7lules situades en els canals de drenatge de l’humor aqu\u00f3s (l\u00edquid intraocular), causant un dany cel\u00b7lular i per tant una fallada en l’eliminaci\u00f3 del l\u00edquid que s’acumula a l’interior del ull, ocasionant un\u00a0augment de la pressi\u00f3 intraocular.<\/strong><\/span>\u00a0Hi ha certes mutacions descrites en aquest gen que confereixen una especial gravetat al quadre cl\u00ednic i ens permet planificar un tractament m\u00e9s intens des del principi.<\/span>\u00a0Els casos de\u00a0glaucoma juvenil poden associar-se fins a en un 36% a mutacions en aquest gen.\u00a0<\/strong><\/span>Sol tractar-se de casos greus, amb un inici preco\u00e7 de les alteracions, amb mal marcat del nervi \u00f2ptic i amb menor resposta al tractament m\u00e8dic, requerint\u00a0cirurgia de manera preco\u00e7 per controlar la pressi\u00f3 intraocular.<\/strong><\/span>\u00a0El\u00a0glaucoma juvenil<\/strong>\u00a0es transmet de manera autos\u00f2mica dominant.<\/span>\u00a0\u00c9s a dir,\u00a0nom\u00e9s amb que un progenitor pare o mare estigui afecte, els seus fills tindran un 50% de probabilitats de presentar la malaltia.<\/strong><\/span><\/p>\n

\n

\"\"<\/a><\/h4>\n

“Nom\u00e9s que un progenitor pare o mare estigui afecte de glaucoma juvenil, els seus fills tindran un 50% de probabilitats de presentar la malaltia”<\/strong><\/span><\/h4>\n

Dra.\u00a0Elena Milla<\/strong><\/a><\/p><\/blockquote>\n

\n

\"Modelo<\/p>\n

\n

EL GEN CYP1B1 I EL GLAUCOMA CONG\u00c8NIT PRIMARI<\/strong><\/span><\/h2>\n

El gen CYP1B1 s’ha associat al\u00a0glaucoma cong\u00e8nit primari<\/a><\/strong>, ja que est\u00e0 implicat en els processos de formaci\u00f3 i desenvolupament de les estructures de l’ull encarregades del drenatge de l’humor aqu\u00f3s durant el per\u00edode embrionari.<\/span>\u00a0La seva an\u00e0lisi t\u00e9 especial inter\u00e8s de cara a un consell gen\u00e8tic en fam\u00edlies que ja han presentat un cas d’aquesta severa patologia.<\/span>\u00a0La transmissi\u00f3 heredit\u00e0ria del\u00a0glaucoma cong\u00e8nit primari\u00a0<\/strong>associada a aquest gen \u00e9s de tipus recessiu.<\/span>\u00a0\u00c9s a dir,\u00a0cal que tant el pare com la mare siguin portadors d’aquesta alteraci\u00f3 gen\u00e8tica<\/strong>\u00a0(encara que no la pateixin) perqu\u00e8 els seus descendents la presentin, amb una probabilitat del 25%.<\/span><\/p>\n

\n

\"\"<\/a><\/h4>\n

“Cal que tant el pare com la mare siguin portadors de l’alteraci\u00f3 gen\u00e8tica causant del glaucoma cong\u00e8nit primari perqu\u00e8 els seus descendents la presentin, amb una probabilitat del 25%”<\/strong><\/span><\/h4>\n

Dra.\u00a0Elena Milla<\/strong><\/a><\/p><\/blockquote>\n

\n

\"El<\/strong><\/h2>\n
\n

EL GLAUCOMA SINDR\u00d2MIC<\/strong><\/span><\/h2>\n

Hi ha un\u00a0tipus especial de glaucoma<\/a>, denominat\u00a0glaucoma sindr\u00f2mic,<\/strong>\u00a0que forma part d’una agrupaci\u00f3 de patologies situades en diferents parts del cos amb un origen o causa comuna.<\/span>\u00a0En molts d’aquests s\u00edndromes es coneix una alteraci\u00f3 gen\u00e8tica responsable de l’aparici\u00f3 de totes aquestes alteracions.<\/span>\u00a0Per exemple, el\u00a0s\u00edndrome de Rieger<\/em><\/a>\u00a0\u00e9s una alteraci\u00f3 gen\u00e8tica que es transmet de manera autos\u00f2mica dominant i que est\u00e0 causada per mutacions en uns gens responsables del desenvolupament de certes estructures oculars, dentals, umibilicales, card\u00edaques etc.<\/span>\u00a0causant\u00a0glaucoma<\/strong>\u00a0i alteracions en la resta d’\u00f2rgans involucrats.<\/span><\/p>\n

\n
\n
\n
\n

<\/p>\n

\u00bfQUIERE CONTACTAR CON LA DRA. ELENA MILLA?<\/span><\/h1>\n

PEDIR CITA<\/a><\/p>\n<\/div>\n<\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"

POST DEL DRA. ELENA MILLA El\u00a0glaucoma\u00a0\u00e9s un exemple t\u00edpic de\u00a0malaltia multifactorial\u00a0en la qual es necessita un substrat gen\u00e8tic o predisposici\u00f3 gen\u00e8tica sobre la qual actuen agents externs (t\u00f2xics, malalties, tractaments, h\u00e0bits de vida etc) i desencadenen l’aparici\u00f3 de la malaltia.\u00a0Aix\u00ed doncs, podem dir que s\u00ed,\u00a0el glaucoma \u00e9s hereditari.\u00a0Forma part del grup de les malalties oculars […]<\/p>\n","protected":false},"author":2,"featured_media":147,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[21],"tags":[76,77],"yoast_head":"\nEl glaucoma \u00e9s hereditari? 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