Charles Usher
Encyclopedia
Charles Howard Usher was a Scottish ophthalmologist from Edinburgh
Edinburgh
Edinburgh is the capital city of Scotland, the second largest city in Scotland, and the eighth most populous in the United Kingdom. The City of Edinburgh Council governs one of Scotland's 32 local government council areas. The council area includes urban Edinburgh and a rural area...

. He studied medicine at St. Thomas Hospital in London
London
London is the capital city of :England and the :United Kingdom, the largest metropolitan area in the United Kingdom, and the largest urban zone in the European Union by most measures. Located on the River Thames, London has been a major settlement for two millennia, its history going back to its...

, and after receiving his doctorate in 1891, he remained at St. Thomas, working under Edward Nettleship
Edward Nettleship
Edward Nettleship was an English ophthalmologist.He was a native of Kettering. After finishing his medical studies, Nettleship became an assistant to Jonathan Hutchinson at the London Hospital, and a coworker with Warren Tay at the Moorfields Eye Hospital. Afterwards he spent nearly twenty years...

 (1845-1913). Later he was an eye surgeon
Surgeon
In medicine, a surgeon is a specialist in surgery. Surgery is a broad category of invasive medical treatment that involves the cutting of a body, whether human or animal, for a specific reason such as the removal of diseased tissue or to repair a tear or breakage...

 at the Aberdeen
Aberdeen
Aberdeen is Scotland's third most populous city, one of Scotland's 32 local government council areas and the United Kingdom's 25th most populous city, with an official population estimate of ....

 Hospital for Sick Children, and also worked in the Aberdeen Royal Infirmary
Aberdeen Royal Infirmary
Aberdeen Royal Infirmary or ARI is a teaching hospital on the Foresterhill site in Aberdeen, Scotland. It is run by NHS Grampian and has around 900 beds. ARI is a tertiary referral hospital serving a population of over 600,000 across the North of Scotland...

.

Usher is known for the eponymous Usher Syndrome
Usher syndrome
Usher syndrome is a relatively rare genetic disorder that is a leading cause of deafblindness and that is associated with a mutation in any one of 10 genes. Other names for Usher syndrome include Hallgren syndrome, Usher-Hallgren syndrome, rp-dysacusis syndrome and dystrophia retinae dysacusis...

, which he described in an 1914 treatise titled On the inheritance of retinitis pigmentosa. He based his findings on a survey of 69 individuals who suffered from visual problems associated with deafness. Usher demonstrated that the disease was inherited, and that parents passed the condition onto their children. His discovery was a continuation of the work done by German ophthalmologists Albrecht von Graefe and Richard Liebreich
Richard Liebreich
Richard Liebreich was a German ophthalmologist and physiologist who was a native of Königsberg.In 1853 he earned his doctorate at Halle, and from 1854 until 1862 was an assistant to Albrecht von Graefe in Berlin. He subsequently practiced medicine in Paris and London , where he was head of...

, who did extensive research of retinitis pigmentosa
Retinitis pigmentosa
Retinitis pigmentosa is a group of genetic eye conditions that leads to incurable blindness. In the progression of symptoms for RP, night blindness generally precedes tunnel vision by years or even decades. Many people with RP do not become legally blind until their 40s or 50s and retain some...

 and its link to deafness in the mid-19th century.

With Dr. Nettleship and Karl Pearson
Karl Pearson
Karl Pearson FRS was an influential English mathematician who has been credited for establishing the disciplineof mathematical statistics....

 (1857-1936), Usher produced an important work on albinism
Albinism
Albinism is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes due to absence or defect of an enzyme involved in the production of melanin...

called A Monograph on Albinism in Man.
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