Twenty years of International Council of Ophthalmology fellowships: description of the programme and the impact on more than 1100 awardees.

BACKGROUND/AIMS: The International Council of Ophthalmology (ICO) offers fellowship programmes to help young ophthalmologists, mainly from low-resource countries, improve their practical or research skills in ophthalmology subspecialty areas. Using questionnaires, the objective of the present study was to evaluate how the ICO Fellowship Programme has impacted on improving knowledge, skills and the careers of young ophthalmologists from low-resource countries. METHODS: From 2001 to 2019 overall 1140 ICO fellowships were awarded. A questionnaire was sent to ICO fellows after the conclusion of their fellowship and another 3 years later. Part 1 contained 26 questions, while Part 2 had 21 questions. The answers were collected through an online platform and analysed descriptively thereafter. RESULTS: 1101 Part 1 questionnaires had been sent to former fellows, with a return rate of 47% (516 responses) and 829 Part 2 questionnaires with a return rate of 47% (390 responses). Overall, 98.3% strongly or somewhat agreed that knowledge in their subspecialty has improved considerably. Whereas only 19% of them held a lecturer, senior lecturer or head of subspecialty department position prior to the fellowship, 46% of them held such a position 3 years after the fellowship was completed. CONCLUSIONS: The ICO Fellowship Programmes aim to promote the enhancement of eye care delivery and eye health in low-resource countries, the professional development of young leaders and the improvement of eye care. The results of the current study confirm the expectation of such a positive impact. Moreover, almost half of the responding participants have been appointed to a local leadership position in their home country.

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.

Hans Goldmann (1899-1991).

Hans Goldmann (1899-1991), born in Komotau in Bohemia, studied medicine in Prague. He was trained in physiology by A.V. Tchermak-Seysenegg and in ophthalmology by A. Elschnig in Prague and by A. Siegrist in Berne. He succeeded Siegrist as chairman of the Department of Ophthalmology in Berne in 1935. He was granted Swiss citizenship in 1936. For almost 70 years, Hans Goldmann has influenced, and continues to influence, the daily practice of ophthalmology. In 1933, he and W. Haag and H. Papritz produced the Haag-Streit-Slitlamp 320. This instrument, together with contact lenses that he developed, enabled the whole eye from the surface of the cornea to the fundus to be examined with the patient in the seated position. In 1945, the Goldmann Cupola-Perimeter followed, which allowed the standardization of background and target luminance. The applanation tonometer was introduced in 1954 and, in 1958, the Haag-Streit Slitlamp 900. The presentation of every new instrument was accompanied by a clinical article demonstrating its value. Goldmann's research culminated in the understanding of the production and outflow of the aqueous. He determined the volume of the anterior chamber in 1941, detected the aqueous veins in 1945, proved that these contain aqueous in 1949, measured aqueous production by fluorescein dilution curves in 1950, and coined the formula that determines outflow facility. This article is to remind the current generation of ophthalmologists of an outstanding man who developed our understanding of disease and who created the many of the instruments that still determine the daily practice of ophthalmology worldwide.

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.

BIGH3 mutation spectrum in corneal dystrophies.

PURPOSE: To investigate the molecular pathology underlying BIGH3-related corneal dystrophies (CDs) and to further delineate genotype-phenotype specificity. METHODS: Sixty-one index patients with CDs were subjected to phenotypic and genotypic characterization. The corneal phenotypes of all patients were assessed by biomicroscopy and documented by slit lamp photography. The BIGH3 gene was amplified exon by exon from constitutional DNA to perform single-strand conformation polymorphism (SSCP) analysis, followed by direct bidirectional sequencing of abnormal conformers. RESULTS: The phenotypes of CDs were classified as lattice CD in 30 patients, Groenouw type I in 12 (CDGGI), Avellino in 7 (CDA), Reis-Bückler in 8 (CDRB), and Thiel-Behnke in 4 (CDTB). Fifty occurrences of 16 distinct mutations were identified, including 8 novel mutations responsible for lattice type IIIA in three patients (CDLIIA), intermediate type I/IIIA (CDLI/IIIA) in four patients, and atypical CDL with deep deposits in one patient (CDL-deep). CONCLUSIONS: Disease-causing mutations were identified in 80% of the patients (50/61). All mutations localize in two regions of kerato-epithelin: the amino acid R124 and BIGH3 fasc domain 4. This study also confirms the mutation hot spot at positions R124 and R555 with nearly 50% of the mutations targeting these two amino acids (24/50). In addition the corneal phenotypes induced by changes at R124 and R555 are amino acid specific: R124C in CDLI, R555W and R124S in CDGGI, R124H in CDA, R124L in CRRB, and R555Q in CDTB. In CDLIIIA, CDLI/IIIA, and CDL-deep the genotype-phenotype correlation is domain specific, with all changes occurring at the boundary or within the fasc4 domain.