Poul Kjer
Encyclopedia
Paul Kjer, Danish ophthalmologist, studied a condition in nineteen families that was characterized by infant
ile optic
atrophy
along with a dominant inheritance mode. In 1959, the condition was named Kjer's optic neuropathy in his honor.
Infant
A newborn or baby is the very young offspring of a human or other mammal. A newborn is an infant who is within hours, days, or up to a few weeks from birth. In medical contexts, newborn or neonate refers to an infant in the first 28 days after birth...
ile optic
Optic
Optic may mean:* optic, a British term for a device for dispensing fixed amounts of alcoholic spirits* Optics, the study of the behavior and properties of light* An optical element or component, such as a lens, prism, or mirror...
atrophy
Atrophy
Atrophy is the partial or complete wasting away of a part of the body. Causes of atrophy include mutations , poor nourishment, poor circulation, loss of hormonal support, loss of nerve supply to the target organ, disuse or lack of exercise or disease intrinsic to the tissue itself...
along with a dominant inheritance mode. In 1959, the condition was named Kjer's optic neuropathy in his honor.
Partial bibliography
- Kjer, P. (1959). "Infantile optic atrophy with dominant mode of inheritance; A clinical and genetic study of 19 Danish families". [Tr. from the Danish]. Acta ophthalmologica, 54. Copenhagen: Munksgaard. OCLC 13752952
- Thiselton, Dawn L, Christiane Alexander, Alex Morris, Simon Brooks, Thomas Rosenberg, Hans Eiberg, Birgit Kjer, Poul Kjer, Shomi S Bhattacharya, and Marcela Votruba. 2001. "A Frameshift Mutation in Exon28 of the OPA1 Gene Explains the High Prevalence of Dominant Optic Atrophy in the Danish Population: Evidence for a Founder Effect". Human Genetics. 109, no. 5: 498.