Controversy over the etiology and therapy of retinal detachment: the struggles of Jules Gonin.

Retinal tears were recognized as soon as ophthalmoscopy became available. They were initially considered to be secondary events, from choroidal exudation and pressure behind the detached retina. This led von Graefe and others to recommend cuts in the retina to drain subretinal fluid into the vitreous cavity. De Wecker (1875, 1879) and Leber (1882) first proposed that intrinsic tears within the retina are the cause of retinal detachment, but they faced extreme and long lasting opposition for this view. Surgical results at this time were uniformly disastrous, and therapeutic nihilism still prevailed when Dufour and Gonin became convinced around 1904-1906 that the retinal tear was indeed the origin of the detachment. It took ten years, however, before Gonin figured out how to close tears by exact placement of heat coagulation ("thermopuncture") and provide therapeutic evidence for his beliefs. When he first presented his results in 1921, colleagues jeered at him, especially Deutschmann and Sourdille who, like the other ophthalmic surgeons, denied the role of the tear (and still made "therapeutic" incisions through the detached retina). Recognition of Gonin's approach finally came at the International Congresses in Amsterdam 1928 and in Madrid in 1933. Sourdille modified his approach when his son Gabriel convinced him to change after 1930, but Deutschmann stuck to his horrific procedure until his death in 1935. Then a new generation of retinal surgeons took over, with subsequent discussion focused on finding the best methods to close the tears.

Franz Fankhauser: the father of the automated perimeter.

Franz Fankhauser is known as the father of automated perimetry and of the q-switched Nd:YAG laser knife. His 15-year journey to computerize perimetry started in 1958 with unsuccessful attempts to automate kinetic perimetry. The switch to using static perimetry resulted in a breakthrough in 1973, and in 1975 the OCTOPUS perimeter came on the market. At the same time Fankhauser was working on the use of light sources for the treatment of ocular tissues. During his career, Fankhauser worked in very close collaboration with mathematicians, physicists, engineers. One of the most astonishing characteristics of Fankhauser was his ability to find and to motivate young scientists to work as a cohesive group for his projects.

Alfred vogt (1879-1943).

Alfred Vogt (1879-1943) was one of three ophthalmologists from the German-speaking part of Switzerland who had an exceptional impact on ophthalmology during the 20th century; the other two were Hans Goldmann (1899-1991) and Franz Fankhauser (1924-). Vogt is known for his natural gift of observation, his extraordinary memory for facts, and an enormous working capacity. Unfortunately, Vogt's merits and exceptional surgical skills were sometimes overshadowed by his aggressive nature.

A novel PITX2 mutation and a polymorphism in a 5-generation family with Axenfeld-Rieger anomaly and coexisting Fuchs' endothelial dystrophy.

PURPOSE: To investigate the clinical and genetic appearance of Axenfeld-Rieger anomaly or syndrome (ARAS) and Fuchs' endothelial dystrophy (FED) in a 5-generation pedigree coexpressing both pathologic features in a large number of family members. DESIGN: Observational case-control and DNA linkage and screening study. PARTICIPANTS: Of 114 family members, 50 underwent clinical investigation and DNA analysis between July 2001 and March 2004. METHODS: Linkage at the PITX2 locus was demonstrated using a number of microsatellites mapping to the critical region 4q25 to 4q26. The PITX2 gene was subsequently screened for mutations in all investigated family members. MAIN OUTCOME MEASURE: Linkage of the ARAS and FED phenotype and mutation detection in the PITX2 gene. RESULTS: Twenty-seven patients were identified as being affected by ARAS. Fuchs' endothelial dystrophy was found in 19 patients. Fifteen patients presented both kinds of anomaly. Deoxyribonucleic acid sequencing revealed 2 heteroallelic DNA variants that segregated together (on the same allele) and were present in all severely affected ARAS individuals. The first variant, g.20913G>T, assumed to be the causative mutation for ARAS, causes amino acid substitution at codon 137 (G137V). A statistically significant 2-point logarithm of the odds score of 4.06 was obtained with marker D4S406. The second variant is likely a polymorphism in the intron between exons 2 and 3 (IVS2+8delCinsGTT) and was detected in heterozygous form in 20% of control individuals. CONCLUSION: This gene analysis revealed a novel PITX2 mutation and a polymorphism in a family with ARAS. Whether FED, also manifested in the severely affected individuals, is due to a different but cosegregating gene is to be determined.