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Familial Internal Limiting Membrane Dystrophy: A New Sheen Retinal Dystrophy

Familial Internal Limiting Membrane Dystrophy: A New Sheen Retinal Dystrophy Abstract Objective: To describe the clinicopathologic features of a previously unreported retinal dystrophy. Methods: Fourteen members of a single family were examined. The medical records of 2 additional family members were reviewed. Pathologic examination was performed on 2 eyes of 1 affected patient. Results: Five individuals were identified with a retinal dystrophy characterized by a glistening inner retinal surface throughout the posterior pole. Visual loss occurred in 3 affected patients in later life owing to superficial polycystic retinal edema and retinal folds. Electroretinographic testing revealed a selective diminution of the b wave. Pathologic examination revealed an abnormal internal limiting membrane with schisis cavities in the inner retina. Endothelial cell swelling, pericyte degeneration, and basement membrane thickening were present in retinal capillaries. Conclusions: A previously unreported sheen retinal dystrophy is described. Pedigree analysis suggests an autosomal dominant mode of inheritance. A primary defect in Müller cells is the suspected, but unproved, cause. No effective treatment for the associated visual loss is known. The term familial internal limiting membrane dystrophy is proposed to describe this condition. References 1. O'Donnell FE, Welch RB. Fenestrated sheen macular dystrophy: a new autosomal dominant maculopathy . Arch Ophthalmol . 1979;97:1292-1296.Crossref 2. Slagsvold JE. Fenestrated sheen macular dystrophy: a new autosomal dominant maculopathy . Acta Ophthalmol . 1981;59:683-688. 3. Daily MJ, Mets MB. Fenestrated sheen macular dystrophy . Arch Ophthalmol . 1984;102:855-856.Crossref 4. Sneed SR, Sieving PA. Fenestrated sheen macular dystrophy . Am J Ophthalmol . 1991;112:1-7. 5. Foos RY. Vitreoretinal juncture: topographical variations . Invest Ophthalmol . 1972;11:801-808. 6. Green WR. The retina . In: Spencer WH, ed. Ophthalmic Pathology: An Atlas and Textbook . 4th ed. Philadelphia, Pa: WB Saunders Co; 1996;2:673-674, 1124-1128. 7. Hogan MJ. The vitreous, its structure, and relation to the ciliary body and retina . Invest Ophthalmol . 1963;2:418-445. 8. Newman EA, Frishman LJ. The b-wave . In: Heckenlively JR, Arden GB, eds. Principles and Practice of Clinical Electrophysiology of Vision . St Louis, Mo: Mosby-Year Book Inc; 1991;101-111. 9. Carlson EC. Human retinal capillary basement membrane leaflets are morphologically distinct: a correlated TEM and SEM analysis . Exp Eye Res . 1989;49:967-981.Crossref 10. Gass JDM, Blodi BA. Idiopathic juxtafoveolar retinal telangiectasis: update of classification and follow-up study . Ophthalmology . 1993;100:1536-1546.Crossref 11. Yanoff M, Rahn EK, Zimmerman LE. Histopathology of juvenile retinoschisis . Arch Ophthalmol . 1968;79:49-53.Crossref 12. Hirose T, Wolf E, Hara A. Electrophysiological and psychophysical studies in congenital retinoschisis of X-linked recessive inheritance . Doc Ophthalmol Proc Ser . 1977;13:173-184. 13. Peachey NS, Fishman GA, Derlacki DJ, Brigell MG. Psychophysical and electroretinographic findings in X-linked juvenile retinoschisis . Arch Ophthalmol . 1987;105:513-516.Crossref 14. Condon GP, Brownstein S, Wang NS, Kearns JA, Ewing CC. Congenital hereditary (juvenile X-linked) retinoschisis: histopathologic and ultrastructural findings in three eyes . Arch Ophthalmol . 1986;104:576-583.Crossref 15. Lewis H, Abrams GW, Blumenkranz MS, Campo RV. Vitrectomy for diabetic macular traction and edema associated with posterior hyaloidal traction . Ophthalmology . 1992;99:753-759.Crossref 16. Renie WA. Fundamentals of genetics . In: Renie WA, ed. Goldberg's Genetic and Metabolic Eye Disease . 2nd ed. Boston, Mass: Little Brown & Co; 1986:11-12, 14-15. 17. Gass JDM. Stereoscopic Atlas of Macular Diseases . 3rd ed. St Louis, Mo: CV Mosby Co; 1987:676-683, 694-713. 18. Smiddy WE, Green WR, Michels RG, de la Cruz Z. Ultrastructural studies of vitreomacular traction syndrome . Am J Ophthalmol . 1989;107:177-185. 19. Smiddy WE, Maguire AM, Green WR, et al. Idiopathic epiretinal membranes: ultrastructural characteristics and clinicopathologic correlation . Ophthalmology . 1989;96:811-821.Crossref 20. Gass JDM. Stereoscopic Atlas of Macular Diseases . 2nd ed. St Louis, Mo; CV Mosby Co; 1977:153. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Ophthalmology American Medical Association

Familial Internal Limiting Membrane Dystrophy: A New Sheen Retinal Dystrophy

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Publisher
American Medical Association
Copyright
Copyright © 1997 American Medical Association. All Rights Reserved.
ISSN
0003-9950
eISSN
1538-3687
DOI
10.1001/archopht.1997.01100160048007
Publisher site
See Article on Publisher Site

Abstract

Abstract Objective: To describe the clinicopathologic features of a previously unreported retinal dystrophy. Methods: Fourteen members of a single family were examined. The medical records of 2 additional family members were reviewed. Pathologic examination was performed on 2 eyes of 1 affected patient. Results: Five individuals were identified with a retinal dystrophy characterized by a glistening inner retinal surface throughout the posterior pole. Visual loss occurred in 3 affected patients in later life owing to superficial polycystic retinal edema and retinal folds. Electroretinographic testing revealed a selective diminution of the b wave. Pathologic examination revealed an abnormal internal limiting membrane with schisis cavities in the inner retina. Endothelial cell swelling, pericyte degeneration, and basement membrane thickening were present in retinal capillaries. Conclusions: A previously unreported sheen retinal dystrophy is described. Pedigree analysis suggests an autosomal dominant mode of inheritance. A primary defect in Müller cells is the suspected, but unproved, cause. No effective treatment for the associated visual loss is known. The term familial internal limiting membrane dystrophy is proposed to describe this condition. References 1. O'Donnell FE, Welch RB. Fenestrated sheen macular dystrophy: a new autosomal dominant maculopathy . Arch Ophthalmol . 1979;97:1292-1296.Crossref 2. Slagsvold JE. Fenestrated sheen macular dystrophy: a new autosomal dominant maculopathy . Acta Ophthalmol . 1981;59:683-688. 3. Daily MJ, Mets MB. Fenestrated sheen macular dystrophy . Arch Ophthalmol . 1984;102:855-856.Crossref 4. Sneed SR, Sieving PA. Fenestrated sheen macular dystrophy . Am J Ophthalmol . 1991;112:1-7. 5. Foos RY. Vitreoretinal juncture: topographical variations . Invest Ophthalmol . 1972;11:801-808. 6. Green WR. The retina . In: Spencer WH, ed. Ophthalmic Pathology: An Atlas and Textbook . 4th ed. Philadelphia, Pa: WB Saunders Co; 1996;2:673-674, 1124-1128. 7. Hogan MJ. The vitreous, its structure, and relation to the ciliary body and retina . Invest Ophthalmol . 1963;2:418-445. 8. Newman EA, Frishman LJ. The b-wave . In: Heckenlively JR, Arden GB, eds. Principles and Practice of Clinical Electrophysiology of Vision . St Louis, Mo: Mosby-Year Book Inc; 1991;101-111. 9. Carlson EC. Human retinal capillary basement membrane leaflets are morphologically distinct: a correlated TEM and SEM analysis . Exp Eye Res . 1989;49:967-981.Crossref 10. Gass JDM, Blodi BA. Idiopathic juxtafoveolar retinal telangiectasis: update of classification and follow-up study . Ophthalmology . 1993;100:1536-1546.Crossref 11. Yanoff M, Rahn EK, Zimmerman LE. Histopathology of juvenile retinoschisis . Arch Ophthalmol . 1968;79:49-53.Crossref 12. Hirose T, Wolf E, Hara A. Electrophysiological and psychophysical studies in congenital retinoschisis of X-linked recessive inheritance . Doc Ophthalmol Proc Ser . 1977;13:173-184. 13. Peachey NS, Fishman GA, Derlacki DJ, Brigell MG. Psychophysical and electroretinographic findings in X-linked juvenile retinoschisis . Arch Ophthalmol . 1987;105:513-516.Crossref 14. Condon GP, Brownstein S, Wang NS, Kearns JA, Ewing CC. Congenital hereditary (juvenile X-linked) retinoschisis: histopathologic and ultrastructural findings in three eyes . Arch Ophthalmol . 1986;104:576-583.Crossref 15. Lewis H, Abrams GW, Blumenkranz MS, Campo RV. Vitrectomy for diabetic macular traction and edema associated with posterior hyaloidal traction . Ophthalmology . 1992;99:753-759.Crossref 16. Renie WA. Fundamentals of genetics . In: Renie WA, ed. Goldberg's Genetic and Metabolic Eye Disease . 2nd ed. Boston, Mass: Little Brown & Co; 1986:11-12, 14-15. 17. Gass JDM. Stereoscopic Atlas of Macular Diseases . 3rd ed. St Louis, Mo: CV Mosby Co; 1987:676-683, 694-713. 18. Smiddy WE, Green WR, Michels RG, de la Cruz Z. Ultrastructural studies of vitreomacular traction syndrome . Am J Ophthalmol . 1989;107:177-185. 19. Smiddy WE, Maguire AM, Green WR, et al. Idiopathic epiretinal membranes: ultrastructural characteristics and clinicopathologic correlation . Ophthalmology . 1989;96:811-821.Crossref 20. Gass JDM. Stereoscopic Atlas of Macular Diseases . 2nd ed. St Louis, Mo; CV Mosby Co; 1977:153.

Journal

Archives of OphthalmologyAmerican Medical Association

Published: Jul 1, 1997

References