Iq 1956 a woman came to my office with the single complaint of a slightly fainting vision. She had central macular depigmentations and visual acuity 0. D. = 0,4; 0. S. = 0,8 (V: 49 in pedigree chart, Figure 1). On a direct question the patient told me that one or two of her four sons had poor vision. Further investigations revealed several cases of cent r d tapetoretinal alterations in residents of one parish, wAr, in the Swedish province of Dalecarlia. A causal relationship between the cases observed was sought and is tentatively reported here. MATERIAL AND METHODSTo secure patients for this study my original office patients were asked for information concerning their families. Additional cases were obtained through the files of the Ophthalmiatric Department of the Falu Hospital, where 10 cases had been observed by my predecessor. 59 cases were traced and observed by me at the ophthalmiatric outpatients department and followed up during half a year to four years. Ten of these patients were admitted for neurological and medical observation by me and my colleagues at the Medical Department.Relationship between patients with macular alterations was sought for by interviews and by means of objective genealogic methods, resorting to birth and parish registers. RESULTSA total of 69 persons were observed to have central retinal alterations, 39 men and 30 women. In 63 instances, 36 men and 27 women, the patients belonged to six frequently intermarrying kindreds from parish >>AN, they are represented in Figure 1, where the Roman numerals refer to generations, the Arabic to individuals. In the following report patients are denoted accordingly. 663
Two large families with hereditary macular degeneration (HMD), one from central Sweden (116 cases), the other from northern Sweden (130 cases), were found to have a common origin. The disease was traced to a couple born in central Sweden (county of Kopparberg) in the 17th century. The disease was introduced to northern Sweden (county of Västerbotten) in the 18th century. Age of onset and severity of the disease varied widely in the 246 patients, 130 men and 116 women, carrying the same mutated gene. The distribution of age of onset was bimodal with one maximum before and one maximum after puberty. Women more often than men had their onset before puberty. The disease was inherited as an autosomal dominant trait with a high but not complete penetrance. At least one patient appeared to be homozygous.
A Binkhorst iridocapsular intraocular lens was implanted into an eye of a patient after an extracapsular cataract extraction. The patient died 4 months after surgery of gastric cancer. The eye was obtained for histopathologic examination at the autopsy. The superior loop was inside the residual capsular bag causing no damage to the iris and ciliary body. The inferior loop, however, was found outside the capsular sac and caused depression of the iris tissue but neither inflammation nor scamng of the iris had developed. These findings emphasize the importance of the location of iridocapsular intraocular lenses which can cause mechanical damage to the supporting tissues if the loops are not placed inside the capsular bag.
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