Crystalline Retinopathies

Survey of Ophthalmology

Volumn 51, Issue 6, 2006, Pages 535-549

  Drenser, Kimberly ^a   Sarraf, David ^b,c,d   Jain, Atul ^e   Small, Kent W ^f  

^a ASSOCIATED RETINAL CONSULTANTS   (United States)

^b JULES STEIN EYE INSTITUTE   (United States)

^c VA GREATER LOS ANGELES HEALTHCARE SYSTEM   (United States)

^d KING DREW MEDICAL CENTER   (United States)

^e STANFORD UNIVERSITY   (United States)

^f Molecular Insight LLC   (United States)

Author keywords

crystalline maculopathy; crystalline retinopathy; refractile retinal deposits; retinal crystals

Indexed keywords

CANTHAXANTHIN; CITRIC ACID; METHOXYFLURANE; MULTIVITAMIN; NITROFURANTOIN; RETINOL; TAMOXIFEN;

AUTOSOMAL RECESSIVE DISORDER; BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY; BREAST CANCER; CANCER HORMONE THERAPY; CLINICAL FEATURE; COLOR VISION DEFECT; CORNEA OPACITY; CRYSTALLINE RETINOPATHY; CYSTINOSIS; DIAGNOSTIC VALUE; DRUG DOSE REGIMEN; DRUG MEGADOSE; DRUG WITHDRAWAL; DRUSEN; GENETIC COUNSELING; HUMAN; IDIOPATHIC JUXTAFOVEAL TELANGIECTASIS TYPE 2; KJELLIN SYNDROME; MEDICAL EXAMINATION; OXALOSIS; PATHOLOGY; PATIENT MONITORING; PHOTODYNAMIC THERAPY; PRIORITY JOURNAL; RETINA DETACHMENT; RETINA DYSTROPHY; RETINA MACULOPATHY; RETINA NEOVASCULARIZATION; RETINOPATHY; REVIEW; SJOEGREN LARSSON SYNDROME; TREATMENT OUTCOME; URINARY TRACT INFECTION; VISUAL DISORDER; WEST AFRICAN CRYSTALLINE MACULOPATHY;

CRYSTALLIZATION; HUMANS; METABOLISM, INBORN ERRORS; PHARMACEUTICAL PREPARATIONS; RETINAL DISEASES;

EID: 33751070016     PISSN: 00396257     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.survophthal.2006.08.006     Document Type: Review

References (108)

1. Choroidal Neovascularization Prevention Trial Research Group. Laser treatment in fellow eyes with large drusen: updated findings from a pilot randomized clinical trial. Ophthalmology 110 (2003) 971-978
2. Age-Related Eye Disease Study Research group. A randomized, placebo-controlled, clinical trial of high-dose supplementation with vitamins C and E, beta carotene, and zinc for age-related macular degeneration and vision loss: AREDS report no. 8. Arch Ophthalmol 119 (2001) 1417-1436
3. Abujamra S., Bonanomi M.T., Cresta F.B., et al. Idiopathic juxtafoveolar retinal telangiectasis: clinical pattern in 19 cases. Ophthalmologica 214 (2000) 406-411
4. Ahmed I., McDonald H.R., Schatz H., et al. Crystalline retinopathy associated with chronic retinal detachment. Arch Ophthalmol 116 (1998) 1449-1453
5. Albert D.M., Bullock J.D., Lahav M., et al. Flecked retina secondary to oxalate crystals from methoxyflurane anesthesia: clinical and experimental studies. Trans Am Acad Ophthalmol Otolaryngol 79 (1975) 817-826
6. Ambati J., Ambati B.K., Yoo S.H., et al. Age-related macular degeneration: etiology, pathogenesis, and therapeutic strategies. Surv Ophthalmol 48 (2003) 257-293
7. Berson E.L., Rosner B., Sandberg M.A., et al. Vitamin A supplementation for retinitis pigmentosa. Arch Ophthalmol 111 (1993) 1456-1459
8. Bietti G.B. Su alcune forme atipiche o rare di degenerazione retinica. Boll. Oculist 16 (1937) 1159-1239
9. Boudreault G., Cortin P., Corriveau L.A., et al. [Canthaxanthine retinopathy: 1. Clinical study in 51 consumers]. Can J Ophthalmol 18 (1983) 325-328
10. Bressler N.M., Bressler S.B., and Fine S.L. Age-related macular degeneration. Surv Ophthalmol 32 (1988) 375-413
11. Browning D.J. West African crystalline maculopathy. Ophthalmology 111 (2004) 921-925
12. Brucker A.J. Disk and peripheral retinal neovascularization secondary to talc and cornstarch emboli. Am J Ophthalmol 88 (1979) 864-867
13. Bullock J.D., and Albert D.M. Flecked retina. Appearance secondary to oxalate crystals from methoxyflurane anesthesia. Arch Ophthalmol 93 (1975) 26-31
14. Bullock J.D., and Albert D.M. Generalized oxalosis with retinal involvement following methoxyflurane anesthesia. Anesthesiology 41 (1974) 296-302
15. Bullock J.D., Albert D.M., Skinner H.C., et al. Calcium oxalate retinopathy associated with generalized oxalosis: x-ray diffraction and electron microscopic studies of crystal deposits. Invest Ophthalmol 13 (1974) 256-265
16. Chew E.Y., Murphy R.P., Newsome D.A., et al. Parafoveal telangiectasis and diabetic retinopathy. Arch Ophthalmol 104 (1986) 71-75
17. Cogan D.G. Development and senescence of the human retinal vasculature. Trans Ophthalmol 83 (1963) 465-489
18. Daicker B., Schiedt K., Adnet J.J., et al. Canthaxanthin retinopathy. An investigation by light and electron microscopy and physicochemical analysis. Graefes Arch Clin Exp Ophthalmol 225 (1987) 189-197
19. Danpure C.J., and Jennings P.R. Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I. FEBS Lett 201 (1986) 20-24
20. Farmer S.G., Longstreth W.T., Kalina R.E., et al. Fleck retina in Kjellin's syndrome. Am J Ophthalmol 99 (1985) 45-50
21. Friberg T.R., Gragoudas E.S., and Regan C.D. Talc emboli and macular ischemia in intravenous drug abuse. Arch Ophthalmol 97 (1979) 1089-1091
22. Frisch I.B., Haag P., Steffen H., et al. Kjellin's syndrome: fundus autofluorescence, angiographic, and electrophysiologic findings. Ophthalmology 109 (2002) 1484-1491
23. Gass J.D., and Blodi B.A. Idiopathic juxtafoveolar retinal telangiectasis. Update of classification and follow-up study. Ophthalmology 100 (1993) 1536-1546
24. Gass J.D., and Oyakawa R.T. Idiopathic juxtafoveolar retinal telangiectasis. Arch Ophthalmol 100 (1982) 769-780
25. Gilbert W.R., Smith J.L., and Nyhan W.L. The Sjogren-Larsson syndrome. Arch Ophthalmol 80 (1968) 308-316
26. Goralczyk R., Barker F.M., Buser S., et al. Dose dependency of canthaxanthin crystals in monkey retina and spatial distribution of its metabolites. Invest Ophthalmol Vis Sci 41 (2000) 1513-1522
27. Gorin M.B., Day R., Costantino J.P., et al. Long-term tamoxifen citrate use and potential ocular toxicity. Am J Ophthalmol 125 (1998) 493-501
28. Green W.R., Quigley H.A., De la Cruz Z., et al. Parafoveal retinal telangiectasis. Light and electron microscopy studies. Trans Ophthalmol Soc UK 100 (1980) 162-170
29. Grigor R.R., and Hughes G.R. Chronic sarcoid arthritis. Br Med J 2 (1976) 1044
30. Hanscom T.A. Indirect treatment of peripheral retinal neovascularization. Am J Ophthalmol 93 (1982) 88-91
31. Harnois C., Cortin P., Samson J., et al. Static perimetry in canthaxanthin maculopathy. Arch Ophthalmol 106 (1988) 58-60
32. Harnois C., Samson J., Malenfant M., et al. Canthaxanthin retinopathy. Anatomic and functional reversibility. Arch Ophthalmol 107 (1989) 538-540
33. Harrison R.J., Acheson R.R., and Dean-Hart J.C. Bietti's tapetoretinal degeneration with marginal corneal dystrophy (crystalline retinopathy): case report. Br J Ophthalmol 71 (1987) 220-223
34. Hayasaka S., and Okuyama S. Crystalline retinopathy. Retina 4 (1984) 177-181
35. Hernell O., Holmgren G., Jagell S.F., et al. Suspected faulty essential fatty acid metabolism in Sjögren-Larsson syndrome. Pediatr Res 16 (1982) 45-49
36. Hu D.N. Ophthalmic genetics in China. Ophthal Paediat Genet 2 (1983) 39-45
37. Ibanez H.E., Williams D.F., and Boniuk I. Crystalline retinopathy associated with long-term nitrofurantoin therapy. Arch Ophthalmol 112 (1994) 304-305
38. Jagell S. SLS or not SLS. Sjögren-Larsson syndrome. Pediatr Neurol 19 (1998) 399
39. Jagell S., and Lidén S. Treatment of the ichthyosis of the Sjögren-Larsson syndrome with etretinate (Tigason). Acta Derm Venereol 63 (1983) 89-91
40. Jagell S., Polland W., and Sandgren O. Specific changes in the fundus typical for the Sjögren-Larsson syndrome. An ophthalmological study of 35 patients. Acta Ophthalmol (Copenh) 58 (1980) 321-330
41. Jampol L.M., Setogawa T., Rednam K.R., et al. Talc retinopathy in primates. A model of ischemic retinopathy: I. Clinical studies. Arch Ophthalmol 99 (1981) 1273-1280
42. Jiao X., Munier F.L., Iwata F., et al. Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35. Am J Hum Genet 67 (2000) 1309-1313
43. Kaga N., Tso M.O., and Jampol L.M. Talc retinopathy in primates: a model of ischemic retinopathy. III. An electron microscopic study. Arch Ophthalmol 100 (1982) 1649-1657
44. Kaga N., Tso M.O., Jampol L.M., et al. Talc retinopathy in primates: a model of ischemic retinopathy. II. A histopathologic study. Arch Ophthalmol 100 (1982) 1644-1648
45. Kaiser-Kupfer M.I., Caruso R.C., Minkler D.S., et al. Long-term ocular manifestations in nephropathic cystinosis. Arch Ophthalmol 104 (1986) 706-711
46. Kaiser-Kupfer M.I., Chan C.C., Markello T.C., et al. Clinical biochemical and pathologic correlations in Bietti's crystalline dystrophy. Am J Ophthalmol 118 (1994) 569-582
47. Kaiser-Kupfer M.I., Gazzo M.A., Datiles M.B., et al. A randomized placebo-controlled trial of cysteamine eye drops in nephropathic cystinosis. Arch Ophthalmol 108 (1990) 689-693
48. Kaiser-Kupfer M.I., Kupfer C., and Rodrigues M.M. Tamoxifen retinopathy. A clinicopathologic report. Ophthalmology 88 (1981) 89-93
49. Kalowski S., Radford N., and Kincaid-Smith P. Crystalline and macrocrystalline nitrofurantoin in the treatment of urinary-tract infection. N Engl J Med 290 (1974) 385-387
50. Kresca L.J., Goldberg M.F., and Jampol L.M. Talc emboli and retinal neovascularization in a drug abuser. Am J Ophthalmol 87 (1979) 334-339
51. Lazzaroni F., Scorolli L., Pizzoleo C.F., et al. Tamoxifen retinopathy: does it really exist?. Graefes Arch Clin Exp Ophthalmol 236 (1998) 669-673
52. Lee H.C., Liu M., and Ho A.C. Idiopathic juxtafoveal telangiectasis in association with celiac sprue. Arch Ophthalmol 122 (2004) 411-413
53. Leumann E., and Hoppe B. The primary hyperoxalurias. J Am Soc Nephrol 12 (2001) 1986-1993
54. Leumann E., Hoppe B., and Neuhaus T. Management of primary hyperoxaluria: efficacy of oral citrate administration. Pediatr Nephrol 7 (1993) 207-211
55. Lewis J.M., Park I., Ohji M., et al. Diamond-dusted silicone cannula for epiretinal membrane separation during vitreous surgery. Am J Ophthalmol 124 (1997) 552-554
56. Leyon H., Ros A.M., Nyberg S., et al. Reversibility of canthaxanthin deposits within the retina. Acta Ophthalmol (Copenh) 68 (1990) 607-611
57. Lidén S., and Jagell S. The Sjögren-Larsson syndrome. Int J Dermatol 23 (1984) 247-253
58. Mashimo T., Tashiro C., and Yoshiya I. Effects of volatile anesthetics on light-induced proton uptake of rhodopsin in bovine rod outer segment disk membrane. Anesthesiology 61 (1984) 439-443
59. Mazze R.I. Fluorinated anaesthetic nephrotoxicity: an update. Can Anaesth Soc J 31 (1984) 16-22
60. McGuinness R., and Beaumont P. Canthaxanthine (orobronze) retinopathy. Aust NZ J Ophthalmol 14 (1986) 239-241
61. Meredith T.A., Wright J.D., Gammon J.A., et al. Ocular involvement in primary hyperoxaluria. Arch Ophthalmol 102 (1984) 584-587
62. Metge P., Mandirac-Bonnefoy C., and Bellaube P. [Retinal thesaurismosis caused by canthaxanthin]. Bull Mem Soc Fr Ophtalmol 95 (1983) 547-549
63. Michelson J.B., Whitcher J.P., Wilson S., et al. Possible foreign body granuloma of the retina associated with intravenous cocaine addiction. Am J Ophthalmol 87 (1979) 278-280
64. Moisseiev J., Lewis H., Bartov E., et al. Superficial retinal refractile deposits in juxtafoveal telangiectasis. Am J Ophthalmol 109 (1990) 604-605
65. Nadim F., Walid H., and Adib J. The differential diagnosis of crystals in the retina. Int Ophthalmol 24 (2001) 113-121
66. Nilsson S.E., and Jagell S. Lipofuscin and melanin content of the retinal pigment epithelium in a case of Sjögren-Larsson syndrome. Br J Ophthalmol 71 (1987) 224-226
67. Nishimura S., Mashimo T., Hiraki K., et al. Volatile anesthetics cause conformational changes of bacteriorhodopsin in purple membrane. Biochim Biophys Acta 818 (1985) 421-424
68. Noureddin B.N., Seoud M., Bashshur Z., et al. Ocular toxicity in low-dose tamoxifen: a prospective study. Eye 13 (1999) 729-733
69. Owens S.L., Bunce C., Brannon A.J., et al. Prophylactic laser treatment appears to promote choroidal neovascularisation in high-risk ARM: results of an interim analysis. Eye 17 (2003) 623-627
70. Poh-Fitzpatrick M.B., and Barbera L.G. Absence of crystalline retinopathy after long-term therapy with beta-carotene. J Am Acad Dermatol 11 (1984) 111-113
71. Potter M.J., Szabo S.M., Sarraf D., et al. Photodynamic therapy for subretinal neovascularization in type 2A idiopathic juxtafoveolar telangiectasis. Can J Ophthalmol 41 (2006) 34-47
72. Purdue P.E., Takada Y., and Danpure C.J. Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1. J Cell Biol 111 (1990) 2341-2351
73. Read J., Goldberg M.F., Fishman G., et al. Nephropathic cystinosis. Am J Ophthalmol 76 (1973) 791-796
74. Richards B.W., Brodstein D.E., Nussbaum J.J., et al. Autosomal dominant crystalline dystrophy. Ophthalmology 98 (1991) 658-665
75. Rizzo W.B., and Craft D.A. Sjögren-Larsson syndrome. Deficient activity of the fatty aldehyde dehydrogenase component of fatty alcohol:NAD+ oxidoreductase in cultured fibroblasts. J Clin Invest 88 (1991) 1643-1648
76. Rogers G.R., Markova N.G., De Laurenzi V., et al. Genomic organization and expression of the human fatty aldehyde dehydrogenase gene (FALDH). Genomics 39 (1997) 127-135
77. Romanes G.J. Sjögren-Larson syndrome. Br J Ophthalmol 52 (1968) 174-177
78. Ros A.M., Leyon H., and Wennersten G. Crystalline retinopathy in patients taking an oral drug containing canthaxanthine. Photodermatol 2 (1985) 183-185
79. Sarks J.P., Sarks S.H., and Killingsworth M.C. Evolution of geographic atrophy of the retinal pigment epithelium. Eye 2 (1988) 552-577
80. Sarraf D., Ceron O., Rasheed K., et al. West African crystalline maculopathy. Arch Ophthalmol 121 (2003) 338-342
81. Sarraf D., Gin T., Yu F., et al. Long-term drusen study. Retina 19 (1999) 513-519
82. Scallon L.J., Burke J.M., Mieler W.F., et al. Canthaxanthine-induced retinal pigment epithelial changes in the cat. Curr Eye Res 7 (1988) 687-693
83. Scheinman J.I., and Saborio P. Optimal management of renal failure in primary hyperoxaluria in infancy, and the use of combined kidney/liver transplantation. Pediatr Transplant 1 (1997) 4-7
84. Schneider J.A., Bradley K.H., and Seegmiller J.E. Transport and intracellular fate of cysteine-35S in leukocytes from normal subjects and patients with cystinosis. Pediatr Res 2 (1968) 441-450
85. Schneider J.A., Wong V., Bradley K., et al. Biochemical comparisons of the adult and childhood forms of cystinosis. N Engl J Med 279 (1968) 1253-1257
86. Sillén A., Alderborn A., Pigg M., et al. Detailed genetic and physical mapping in the Sjögren-Larsson syndrome gene region in 17p11.2. Hereditas 128 (1998) 245-250
87. Sillén A., Anton-Lamprecht I., Braun-Quentin C., et al. Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome. Hum Mutat 12 (1998) 377-384
88. Sillén A., Jagell S., and Wadelius C. A missense mutation in the FALDH gene identified in Sjögren-Larsson syndrome patients originating from the northern part of Sweden. Hum Genet 100 (1997) 201-203
89. Sjogren T., and Larsson T. Oligophrenia in combination with congenital ichthyosis and spastic disorders: a clinical and genetic study. Acta Psychiat Neurol Scand 32 (1957) 1-112
90. Small K.W., Letson R., and Scheinman J. Ocular findings in primary hyperoxaluria. Arch Ophthalmol 108 (1990) 89-93
91. Small K.W., Pollock S., and Scheinman J. Optic atrophy in primary oxalosis. Am J Ophthalmol 106 (1988) 96-97
92. Small K.W., Scheinman J., and Klintworth G.K. A clinicopathological study of ocular involvement in primary hyperoxaluria type I. Br J Ophthalmol 76 (1992) 54-57
93. Tang R., Shields J., Schiffman J., et al. Retinal changes associated with tamoxifen treatment for breast cancer. Eye 11 (1997) 295-297
94. Toler S.M. Oxidative stress plays an important role in the pathogenesis of drug-induced retinopathy. Exp Biol Med (Maywood) 229 (2004) 607-615
95. Town M., Jean G., Cherqui S., et al. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat Genet 18 (1998) 319-324
96. Traboulsi E.I. Fleck retina in Kjellin's syndrome. Am J Ophthalmol 99 (1985) 738-739
97. Tse D.T., and Ober R.R. Talc retinopathy. Am J Ophthalmol 90 (1980) 624-640
98. van Domburg P.H., Willemsen M.A., Rotteveel J.J., et al. Sjögren-Larsson syndrome: clinical and MRI/MRS findings in FALDH-deficient patients. Neurology 52 (1999) 1345-1352
99. van Norren D., and Padmos P. Influence of anesthetics, ethyl alcohol, and Freon on dark adaptation of monkey cone ERG. Invest Ophthalmol Vis Sci 16 (1977) 80-83
100. Vissian L., Raibaudi R., and Vaillaud J.C. [Sjögren-Larsson syndrome in an infant]. Bull Soc Fr Dermatol Syphiligr 78 (1971) 500-504
101. Watts R.W. The clinical spectrum of the primary hyperoxalurias and their treatment. J Nephrol 11 Suppl 1 (1998) 4-7
102. Weber U., Kern W., Novotny G.E., et al. Experimental carotenoid retinopathy. I. Functional and morphological alterations of the rabbit retina after 11 months dietary carotenoid application. Graefes Arch Clin Exp Ophthalmol 225 (1987) 198-205
103. Weber U., Michaelis L., Kern W., et al. Experimental carotenoid retinopathy. II. Functional and morphological alterations of the rabbit retina after acute canthaxanthin application with small unilamellar phospholipid liposomes. Graefes Arch Clin Exp Ophthalmol 225 (1987) 346-350
104. Weinberg D.V., Sieving P.A., Bingham E.L., et al. Bietti crystalline retinopathy and juvenile retinoschisis in a family with a novel RS1 mutation. Arch Ophthalmol 119 (2001) 1719-1721
105. Welch R.B. Bietti's tapetoretinal degeneration with marginal corneal dystrophy crystalline retinopathy. Trans Am Ophthalmol Soc 75 (1977) 164-179
106. Wells C.G., Johnson R.J., Qingli L., et al. Retinal oxalosis. A clinicopathologic report. Arch Ophthalmol 107 (1989) 1638-1643
107. Willemsen M.A., Cruysberg J.R., Rotteveel J.J., et al. Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjögren-Larsson syndrome. Am J Ophthalmol 130 (2000) 782-789
108. Wilson D.J., Weleber R.G., Klein M.L., et al. Bietti's crystalline dystrophy. A clinicopathologic correlative study. Arch Ophthalmol 107 (1989) 213-221