Retinoschisis associated with optic nerve pits. 1988.

Stereoscopic transparencies studied with magnification and projection suggest that the retinal elevation that communicates with optic pits is frequently a schisislike separation of the internal layers of retina. Thirteen of 15 eyes with optic pits and maculopathy fit the schisis pattern. Separation of the outer layers of the retina is a secondary phenomenon that starts in the macula.

Clyde E. Keeler: The Rodless Mouse and the Early Days of Retinal Genetic Research.

PURPOSE: To report the lifetime activities and accomplishments of Clyde E. Keeler (1900-1994), a pioneer in the study of retinal genetics. DESIGN: Retrospective review. METHODS: Assessment of published and unpublished biographical material. RESULTS: Nearly a century ago, Keeler discovered an inherited abnormality in the mouse that causes the absence of rod photoreceptors and is the mouse counterpart of 1 type of human retinitis pigmentosa. CONCLUSIONS: In 1923, Keeler serendipitously discovered the so-called rodless mouse, which is now known to be the result of a mutation in the PDEGB gene. The historical name for the mouse strain is rd. This same defect was reported in human patients with retinitis pigmentosa in 1993. Keeler's mouse model is still used in gene therapy studies seeking to cure retinitis pigmentosa.

Backwards Medicine: Female Atavism, Whiteness, and the Medical Profession in "The Pineal Eye".

This article examines atavism as a theory of racial science in the nineteenth-century United States that illuminates how the developing medical profession reinforced racial, class, and gender hierarchies to gain cultural authority. I use John S. Partridge's "The Pineal Eye," a little-known short story published in San Francisco's The Wave in 1894, as a case study that reveals how atavism was conceived as pathology within the purview of medical study. Partridge intertwines established atavistic discourse that asserted the Anglo-Saxon female body as paradoxically modern in terms of racial identity and primitive in terms of sex with scientific experimentation and male medical authority, resulting in evolutionary regression. Partridge portrays atavism as a lens with which to challenge medicine that relied on experimentation and scientific discovery rather than recuperative treatment. I argue that these connections between atavistic and medical discourse blur the boundaries between science and fiction during the period.

Axenfeld-Rieger syndrome in the age of molecular genetics.

PURPOSE: To review the molecular genetics of Axenfeld-Rieger syndrome and related phenotypes and to discuss how this information might affect the way that we classify these disorders. METHODS: A review of historical and recent literature on Axenfeld-Rieger syndrome and related disorders. The review includes clinical and molecular genetic literature relevant to these phenotypes. RESULTS: Three chromosomal loci have recently been demonstrated to link to Axenfeld-Rieger syndrome and related phenotypes. These loci are on chromosomes 4q25, 6p25, and 13q14. The genes at chromosomes 4q25 and 6p25 have been identified as PITX2 and FKHL7, respectively. Mutations in these genes can cause a wide variety of phenotypes that share features with Axenfeld-Rieger syndrome. Axenfeld anomaly, Rieger anomaly, Rieger syndrome, iridogoniodysgenesis anomaly, iridogoniodysgenesis syndrome, iris hypoplasia, and familial glaucoma iridogoniodysplasia all have sufficient genotypic and phenotypic overlap that they should be considered one condition. CONCLUSIONS: Axenfeld-Rieger syndrome is a term that can be used to describe a variety of overlapping phenotypes. To date, at least three known genetic loci can cause these disorders. The single most important feature of these phenotypes is that they confer a 50% or greater risk of developing glaucoma. Currently there is a fairly arbitrary grouping of disorders into small categories. Considering all of these phenotypes under the heading of Axenfeld-Rieger syndrome will allow easier communication between clinicians and scientists and eliminate arbitrary and confusing subclassification.

[Carl Gustav Carus (1789-1869) and his single ophthalmologic publication]. / Carl Gustav Carus (1789-1869) und seine einzige ophthalmologische Publikation.

Carl Gustav Carus is the most important personality in medicine in Dresden in the first half of the 19th century. He is well known for his manifold activity as a doctor, scientist and philosopher as well as a landscape painter of the romantic period. His literary output is estimated at about 25,000 printed pages. There is just one paper which touches ophthalmology and teratology: in 1842, Carus described the monstrous head of a pig with cyclopia. The discussion follows an idealistic line with comparative anatomical studies in fauna and flora.

Holoprosencephaly in Mexico: first reported autopsy case by Dr. Agustín Arellano.

INTRODUCTION: Holoprosencephaly with cyclocephaly is an early disturbance of organogenesis and has been classified as a severe brain malformation starting in 1755 by Eller in Germany, then in 1822 by Etienne Geoffroy de Saint-Hilaire in France, and finally in 1828 by Tiedemann in Germany. In 1839, Dr. Arellano published in Mexico a necropsy case of holoprosencephaly. This was the fourth publication worldwide on this kind of pathological alteration. Furthermore, in reference to diaphragmatic herniation, Arellano's paper is the fourth world report, having appeared 9 years before Bochdalek's publication. We have not found any other report that appeared before 1839 in the Americas on this particular malformation, and we consider that Arellano's paper was the first of its kind on the American continent. CONCLUSION: As is well known, the publications of this Mexican medical researcher were, for his time, at the level of those of the most developed countries. It is also important to know that the medical journal where Arellano's work was published, the "Periódico de la Academia de Medicina de Mégico(sic)," founded and directed by Dr. Manuel Carpio in 1836, is the direct forerunner of the present Gaceta Médica de México, the oldest currently published journal in the Americas.

The cyclopes in Odysseus' Apologos.

In Homer's Odyssey, Odysseus narrates the lifestyle and behavior of the Cyclopes. They were no larger than life-sized figures and lived in a land rich in natural products but cultivated nothing. They dwelled in caves, and their sociopolitical system was based on the family unit. There were no interfamilial congregations, institutions, or laws. They had no ships, nor were there any craftsmen who might build ships to visit the cities of other men. Perhaps the land of the Cyclopes described in Homer's Odyssey may have represented a place somewhat like the hospitals or islands which were used to isolate patients with leprosy. Otherwise, we can follow Thucydides' opinion: let it suffice, as the story has been told by poets, and each man has formed his own opinion about them.

Willem Vrolik on cyclopia.

One of the founders of the Museum Vrolikianum, Professor Willem Vrolik (1801-1862), was very interested in teratology, especially in a congenital malformation termed cyclopia. In 1834 he published a paper on cyclopia. This work was mainly based on studies of cyclopic specimens present in the collection of his father, Professor Gerardus Vrolik. In this study he proposed a classification system for cyclopes, in which he divided them into five main types. This study also formed the basis for the chapters on cyclopia in his Handbook of pathological anatomy (1842-1844) and his Tabulae ad illustrandam embryogenesin hominis et mammalium (1844-1849). In these studies the specimens of cyclopes of man and mammals, still present in the collection of the Museum Vrolik in the Department of Anatomy and Embryology of the University of Amsterdam, were described and illustrated with beautiful lithographs. The collection consists of five human cyclopes and nineteen other cyclopic mammals. These mammals are pigs, lambs and a cat.