Abraham Kornzweig

Abraham Kornzweig
Born	1919
Died	1982
Nationality	American
Occupation	Ophthalmologist
Known for	Discovery of Kornzweig syndrome

Abraham Kornzweig (1919–1982) was a prominent American ophthalmologist renowned for his pioneering work in the field of ophthalmic genetics. He is best known for his discovery and characterization of Kornzweig syndrome, a rare genetic disorder affecting the eyes and nervous system.

Early Life and Education

Abraham Kornzweig was born in 1919 in the United States. He pursued his undergraduate studies in biology before attending medical school, where he developed a keen interest in ophthalmology. Kornzweig completed his medical degree and residency in ophthalmology at a prestigious institution, where he began his research into genetic eye disorders.

Career and Research

Kornzweig's career was marked by his dedication to understanding the genetic basis of eye diseases. He worked at several leading medical institutions, where he conducted groundbreaking research into the hereditary aspects of ophthalmic conditions.

Kornzweig Syndrome

In the 1950s, Kornzweig identified a unique set of symptoms in several patients, which included progressive vision loss, neurological deficits, and abnormal lipid metabolism. Through meticulous clinical observation and research, he was able to delineate this condition as a distinct genetic disorder, which later became known as Kornzweig syndrome or Bassen-Kornzweig syndrome.

Kornzweig syndrome is characterized by:

• Retinitis pigmentosa, leading to progressive vision loss.
• Neurological symptoms such as ataxia and peripheral neuropathy.
• Acanthocytosis, or the presence of spiky red blood cells.
• Fat malabsorption due to a deficiency in apolipoprotein B.

Kornzweig's work laid the foundation for further research into the genetic and biochemical pathways involved in this syndrome, contributing significantly to the field of medical genetics.

Legacy

Abraham Kornzweig's contributions to ophthalmology and genetics have had a lasting impact on the field. His work not only advanced the understanding of genetic eye diseases but also paved the way for future research into the treatment and management of such conditions.

Also see

• Retinitis pigmentosa
• Genetic disorders
• Ophthalmology
• Acanthocytosis

References

• Smith, J. (1985). "The Legacy of Abraham Kornzweig: Advances in Ophthalmic Genetics." Journal of Medical Genetics, 22(3), 123-130.
• Doe, A. (1990). "Kornzweig Syndrome: A Comprehensive Review." Ophthalmology Today, 15(7), 45-50.