Sindromes oculorrenales Flashcards

1
Q

Sindrome de Lowe (mutacion hemicigotica el OCRL)

A

Cataratas congenitas bilaterales y glaucoma. Pupilas tipicamente mioticas, lentes pequeñas y gruesas.

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2
Q

Sindrome de Alport (enfermedad de membrana basal)

A

Lenticono anterior, catarata, distrofia corneal polimorfa posterior y retinopatia con manchas.

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3
Q

Ciliopatias

A

Distrofia retiniana,

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