📂 Diseases
familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome — Definition
Ailesel ilerleyici retinal distrofi-iris kolobomu-konjenital katarakt sendromu / familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
This syndrome is a rare genetic disease characterized by a retinal degeneration, a slit-like defect (colobom) and congenital cataract. Vision loss usually starts during childhood and can lead to blindness by transmitting over time. Otozomal dominant or resesif inheritance may show paterni and is subject to genetic tests with diagnostic clinical findings.
Frequently Asked Questions
❓ What is Ailesel ilerleyici retinal distrofi-iris kolobomu-konjenital katarakt sendromu?
Ailesel ilerleyici retinal distrofi-iris kolobomu-konjenital katarakt sendromu; this syndrome is a rare genetic disease characterized by a retinal degeneration, a slit-like defect (colobom) and congenital cataract. Vision loss usually starts during childhood and can lead to blindness by transmitting over time. Otozomal dominant or resesif inheritance may show paterni and is subject to genetic tests with diagnostic clinical findings.
❓ What is familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome in Turkish?
The Turkish equivalent of "familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome" is Ailesel ilerleyici retinal distrofi-iris kolobomu-konjenital katarakt sendromu.
❓ Which medical field is Ailesel ilerleyici retinal distrofi-iris kolobomu-konjenital katarakt sendromu related to?
This term belongs to the Diseases category.