Valle’s syndrome

( Franceschetti's dystrophy )

 Valle’s syndrome 

Recurring corneal reaction characterized by impairment of central vision with intact peripheral retinal function. There is nondendritic corneal ulcer and strong oedema. Pain when opening the eyes in the morning, diminishing as the day progresses. Mild fever. Usually following a minor injury. Both sexes affected; onset usually in childhood. The frequency of attacks diminishes with age, becoming quite rare after the age of 50. Hereditary familial form is autosomal dominant.

More details: 📖 Kanski’s Clinical Ophthalmology: A Systematic Approach, 9th Edition

Adolphe Franceschetti (1896 - 1968), Swiss ophthalmologist.

Adolphe Franceschetti 

Adolphe Franceschetti was the son of Karl Adolf Franceschetti and Anna Bertha, née Spitzer, an ophthalmologist. He graduated in medicine from the University of Zurich, and from 1921 he worked in the ophthalmological clinic, but then moved to Basel where he worked with Richard Max Brückner (born 1896). In Basel he obtained the medical doctorate with a dissertation on the intra-ocular fluids. He was habilitated as a Privatdozent in Basel in 1931, and from 1933 to 1966 he was professor and director of the university eye clinic in Geneva. He was a versatile clinician and operator (cornea transplantation), and an untiring researcher. Franceschetti published more than 500 articles, the majority of them on human genetics and inheritable diseases of the eye. In 1948 Franceschetti created a department of human genetics at his clinic. This was headed by David Klein and became the origin of the first institute of human genetics in Switzerland. His name is attached to some 10 syndromes.

References

A corneal dystrophy associated with transforming growth factor beta-induced Gly623Asp mutation an amyloidogenic phenotype.

Auw-Haedrich C, Agostini H, Clausen I, Reinhard T, Eberwein P, Schorderet DF, Gruenauer-Kloevekorn C.

Ophthalmology. 2009 Jan;116(1):46-51. doi: 10.1016/j.ophtha.2008.08.050. Epub 2008 Nov 18.

PMID: 19019446

Spontaneous and inheritable R555Q mutation in the TGFBI/BIGH3 gene in two unrelated families exhibiting Bowman's layer corneal dystrophy.

Zhao XC, Nakamura H, Subramanyam S, Stock LE, Gillette TE, Yoshikawa S, Ma X, Yee RW.

Ophthalmology. 2007 Nov;114(11):e39-46. doi: 10.1016/j.ophtha.2007.07.029.

PMID: 17980739

A unique corneal dystrophy of Bowman's layer and stroma associated with the Gly623Asp mutation in the transforming growth factor beta-induced (TGFBI) gene.

Aldave AJ, Rayner SA, King JA, Affeldt JA, Yellore VS.

Ophthalmology. 2005 Jun;112(6):1017-22. doi: 10.1016/j.ophtha.2004.12.044.

PMID: 15885785

[Corneal dystrophy (CD)-induced pain and visual impairment in childhood].

Lisch W.

Klin Monbl Augenheilkd. 2013 Jun;230(6):582-6. doi: 10.1055/s-0032-1328312. Epub 2013 Jun 21.

PMID: 23794427 Review. German.

[The revised newest IC³D classification of corneal dystrophies].

Seitz B, Lisch W, Weiss J.

Klin Monbl Augenheilkd. 2015 Mar;232(3):283-94. doi: 10.1055/s-0041-100774. Epub 2015 Mar 24.

PMID: 25803558 Review. German.