ABSTRACT
"Minimal" orbital exenteration, obtained by excision of a lid tumor (that had recurred after local incision), removal of the conjunctival sac, enucleation, and tenonectomy were used to treat intraepithelial sebaceous epithelioma with pagetoid spread to conjunctiva and cornea in an 80-year-old man.
Subject(s)
Carcinoma in Situ/surgery , Eye Neoplasms/surgery , Eyelid Neoplasms/surgery , Sebaceous Gland Neoplasms/surgery , Adenocarcinoma/surgery , Aged , Aged, 80 and over , Carcinoma in Situ/pathology , Conjunctival Neoplasms/surgery , Corneal Diseases/surgery , Eyelid Neoplasms/pathology , Humans , MaleABSTRACT
Blue cone monochromacy (BCM) is an infrequent X-linked retinal disorder typified by poor central visual acuity and color discrimination, early onset of nystagmus, variable degrees of myopia and astigmatism, and a nearly normal retinal appearance. The physiologic functions of rods and blue cones are preserved. The regional location of the genetic mutation causing BCM has been unknown. We have applied the modern molecular techniques of analysis of restriction fragment length polymorphisms to three multigenerational kindreds in which BCM is segregating. Significant linkage is established to two DNA markers, DXS15 and DXS52, each of which maps to the vicinity of Xq28. Regional localization of the locus for BCM has the potential to improve carrier detection and to provide antenatal diagnosis in families at risk for the disease.
Subject(s)
Chromosome Mapping , Color Vision Defects/genetics , Eye Diseases/genetics , Genetic Linkage , X Chromosome , Female , Humans , Male , Pedigree , Polymorphism, Restriction Fragment Length , Recombination, GeneticABSTRACT
We recorded full-field electroretinograms from seven female obligate carriers of X-linked blue cone monochromatism and eight daughters of obligate carriers. We observed that all obligate carriers had one or more of the following abnormalities: delayed cone b-wave implicit times to 30-Hz white flicker, loss of the a1 oscillation in responses to single flashes of white light under dark-adapted conditions, subnormal b-wave amplitudes to single flashes of white light under dark-adapted conditions, and subnormal cone responses to 30-Hz white flicker. All had normal rod responses to blue light. Three of eight daughters of obligate carriers had abnormal electroretinograms comparable to those recorded from obligate carriers. These obligate carriers have a partial but comparable deficiency of red and green cone function.
Subject(s)
Color Vision Defects/genetics , Heterozygote , Photoreceptor Cells/physiopathology , Adult , Child , Color Vision Defects/physiopathology , Electroretinography , Female , Genetic Linkage , Humans , Middle Aged , Pedigree , Photic Stimulation/methods , X ChromosomeABSTRACT
Between 1976 and 1980, medical and social service sources were used to ascertain cases of retinitis pigmentosa in Maine (1980 population, I, 124,660). As of July 1, 1980, 241 clinically prevalent cases of retinitis pigmentosa were ascertained. Extensive pedigrees were collected for 185 of the subjects and medical records were obtained. One hundred fourteen cases were further evaluated by clinical examination including electroretinography. Adjusting for incorrect diagnosis (eight of 114, 7%) and underascertainment (23 of 185, 12.5%), we estimated that prevalence of retinitis pigmentosa in Maine is 236 cases, 21 per 100,000 population or 1:4,756. Excluding Usher and Bardet-Biedl syndromes, the prevalence is 1:5,193. Estimated birth incidence of persons who will become affected with non-syndrome retinitis pigmentosa is 1:3,544. Incidence of newly diagnosed cases per year is about six per 1,000,000 population. Among kindreds, 16 of 85 (19%) were autosomal dominant, 55 of 85 (65%) autosomal recessive or isolated cases, seven of 85 (8%) X-linked recessive, and seven of 85 (8%) not classified by mode of transmission.