@article{1f64ed5200a64e138398529e1034e1f4,
title = "Iris transillumination and variable expression in ectopia lentis et pupillae",
abstract = "Six children in three families showed variations of the rare genetic syndrome, ectopia lentis et pupillae. The siblings in two affected families demonstrated intermingling of simple lens ectopia with ectopia lentis et pupillae, suggesting that some types of simple ectopia lentis represent an incompletely expressed form of the full ectopia lentis et pupillae syndrome. Those patients with simple lens ectopia as well as those with ectopic lenses and pupils had striking transillumination of the iris periphery. Microphakia, cataract, and other anterior segment abnormalities were also observed.",
author = "Luebbers, {James A.} and Goldberg, {Morton F.} and Robert Herbst and John Hattenhauer and Maumenee, {A. Edward}",
note = "Funding Information: Case 1—A white boy (A-II-1, Fig. 1), born in 1971, was the product of a nine-month gestation and uncomplicated delivery. The mother and maternal family had no history of notable eye disease; the father was unknown. The mother had no obvious eye defects. The patient was first seen at the University of Illinois at the age of 5 months for evaluation of photophobia, {"}jumping eyes{"} (pendular nystagmus), and eccentric pupils. Under ketamine anesthesia at the age of 7 months, From the Department of Ophthalmology, University of Illinois Eye and Ear Infirmary, Chicago, Illinois (Drs. Luebbers and Goldberg); the San Diego Naval Hospital, San Diego, California (Dr. Herbst); the Wausau Eye Clinic, Wausau, Wisconsin (Dr. Hattenhauer); and the Wilmer Ophthalmological Institute, Baltimore, Maryland (Dr. Maumenee). This study was supported in part by Public Health Service training grant PHS EY 24-14, 16, 17; by an unrestricted grant from Research to Prevent Blindness, Inc., New York; and by the Illinois Society for the Prevention of Blindness.",
year = "1977",
month = may,
doi = "10.1016/0002-9394(77)90130-1",
language = "English (US)",
volume = "83",
pages = "647--649",
journal = "American journal of ophthalmology",
issn = "0002-9394",
publisher = "Elsevier USA",
number = "5",
}