Sub-retinal pigment epithelial deposits in a dominant late-onset retinal degeneration

Investigative Ophthalmology and Visual Science

Volumn 37, Issue 9, 1996, Pages 1772-1782

  Kuntz, Christopher A ^a   Jacobson, Samuel G ^b,c   Cideciyan, Artur V ^b,c   Li, Zong Yi ^a   Stone, Edwin M ^d   Possin, Daniel ^a   Milam, Ann H ^a  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF IOWA   (United States)

Author keywords

retinal pigment epithelium; retinitis pigmentosa; Sorsby fundus dystrophy; TIMP 3

Indexed keywords

PERIPHERIN; RHODOPSIN; TISSUE INHIBITOR OF METALLOPROTEINASE;

AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRUCH MEMBRANE; CASE REPORT; DYSTROPHY; EYE FUNDUS; GENETIC LINKAGE; HUMAN; HUMAN TISSUE; MALE; NIGHT BLINDNESS; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RETINA DEGENERATION; RETINA PIGMENT EPITHELIOPATHY; RETINITIS PIGMENTOSA;

ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; CORNEA; DNA; ELECTRORETINOGRAPHY; FEMALE; GENES, DOMINANT; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MICROSCOPY, ELECTRON; MIDDLE AGED; PEDIGREE; PIGMENT EPITHELIUM OF EYE; RETINAL DEGENERATION; VISUAL ACUITY;

EID: 0029790359     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (23)

1. Green WR, Enger C. Age-related macular degeneration histopathologic studies: The 1992 Lorenz E. Zimmerman Lecture. Ophthalmology. 1993;100:1519-1535.
2. Capon MR, Marshall H, Krafft JI, et al. Sorsby's fundus dystrophy: A light and electron microscopic study. Ophthalmology. 1989;96:1769-1777.
3. Steinmetz RL, Polkinghorne PC, Fitzke FW, et al. Abnormal dark adaptation and rhodopsin kintetics in Sorsby's fundus dystrophy. Invest Ophthalmol Vis Sci. 1992;33:1633-1636.
4. Steinmetz RL, Haimovici R, Jubb C, et al. Symptomatic abnormalities of dark adaptation in patients with age-related Bruch's membrane change. Br J Ophthalmol. 1993;77:549-554.
5. Weber BH, Vogt G, Pruett RC. Mutations in the tissue inhibitor of metalloproteinase-3 (TIMP3) in patients with Sorsby's fundus dystrophy. Nature Genet. 1994; 8:352-356.
6. Milam AH, Jacobson SG. Photoreceptor rosettes with blue cone opsin immunoreactivity in retinitis pigmentosa. Ophthalmology. 1990;97:1620-1631.
7. Jacobson SG, Kemp CM, Cideciyan AV, et al. Phenotypes of stop codon and splice site rhodopsin mutations causing retinitis pigmentosa. Invest Ophthalmol Vis Sci. 1994;35:2521-2534.
8. Azevedo DFG, Cideciyan AV, Regunath G, et al. An automated imaging dark adaptometer for investigating hereditary retinal degenerations. In: Parel J-M, Ren Q, Joos KM, eds. Ophthalmic Technologies V. Bellingham, WA: SPIE; 1995;2393:313-321.
9. Li Z-Y, Possin DE, Milam AH. Histopathology of bone spicule pigmentation in retinitis pigmentosa. Ophthalmology. 1995;102:805-816.
10. Li Z-Y, Kljavin IJ, Milam AH. Rod photoreceptor neurite sprouting in retinitis pigmentosa. J Neurosci. 1995;15:5429-5438.
11. Jacobson SG, Cideciyan AV, Regunath G, et al. Night blindness in Sorsby's fundus dystrophy reversed by vitamin A. Nature Genet. 1995;11:27-32.
12. Alexander KR, Fishman GA. Prolonged rod dark adaptation in retinitis pigmentosa. Br J Ophthalmol. 1984; 68:561-569.
13. Jacobson SG, Kemp CM, Sung C-H, et al. Retinal function and rhodopsin levels in autosomal dominant retinitis pigmentosa with rhodopsin mutations. Am J Ophthalmol. 1991;112:256-271.
14. Kemp CM, Jacobson SG, Roman AJ, et al. Abnormal rod dark adaptation in autosomal dominant retinitis pigmentosa with proline-23-histidine rhodopsin mutation. Am J Ophthalmol. 1992;113:165-174.
15. Moore AT, Fitzke FW, Kemp CM, et al. Abnormal dark adaptation kinetics in autosomal dominant sector retinitis pigmentosa due to rod opsin mutation. Br J Ophthalmol. 1992;76:465-469.
16. Kemp CM, Jacobson SG, Faulkner DJ, et al. Visual function and rhodopsin levels in humans with vitamin A deficiency. Exp Eye Res. 1988;46:185-197.
17. Li Z-Y, Jacobson SG, Milam AH. Autosomal dominant retinitis pigmentosa caused by the threonine-17-methionine rhodopsin mutation: Retinal histopathology and immunocytochemistry. Exp Eye Res. 1994;58:397-408.
18. Deutman AF. Macular dystrophies. In: Ryan S, ed. Retina. Vol. 2. St. Louis: CV Mosby; 1994:1186-1240.
19. Duvall J, McKechnie NM, Lee WR, et al. Extensive subretinal pigment epithelial deposit in two brothers suffering from dominant retinitis pigmentosa: A histopathological study. Graefe's Arch Clin Exp Ophthalmol. 1986;224:299-309.
20. Brosnahan DM, Kennedy SM, Converse CA, et al. Pathology of hereditary retinal degeneration associated with hypobetalipoproteinemia. Ophthalmology. 1994; 101:38-45.
21. Bressler NM, Bressler SB, Fine SL. Age-related macular degeneration. Surv Ophthalmol. 1988;32:375-413.
22. Moore DJ, Hussain AA, Marshall J. Age-related variation in the hydraulic conductivity of Bruch's membrane. Invest Ophthalmol Vis Sci. 1995;36:1290-1297.
23. Pauleikhoff D, Sheraidah G, Marshall J, et al. Biochemical and histochemical analysis of age related lipid deposits in Bruch's membrane. Ophthalmologe. 1994;91:730-734.