Pigmented and depigmented lesions of the ocular fundus

Current Opinion in Ophthalmology

Volumn 23, Issue 5, 2012, Pages 337-343

  Traboulsi, Elias I ^a  

^a LERNER RESEARCH INSTITUTE   (United States)

Author keywords

adenomatous polyposis coli; congenital hypertrophy of the retinal pigment epithelium; grouped pigmentation of the retina; pigmented ocular fundus lesions; torpedo

Indexed keywords

CLINICAL FEATURE; CONGENITAL RETINA PIGMENT EPITHELIUM HYPERTROPHY; DEPIGMENTED OCULAR FUNDUS LESION; DIAGNOSTIC ACCURACY; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; EYE FUNDUS; FAMILIAL COLON POLYPOSIS; GENETIC SCREENING; HUMAN; MUTATIONAL ANALYSIS; OCULAR FUNDUS TORPEDO LESION; OPHTHALMOSCOPY; PATIENT REFERRAL; PIGMENT EPITHELIUM; PIGMENTED OCULAR FUNDUS LESION; PRIORITY JOURNAL; RETINA DISEASE; REVIEW;

ADENOMATOUS POLYPOSIS COLI; FUNDUS OCULI; HUMANS; RETINAL DISEASES; RETINAL PIGMENT EPITHELIUM;

EID: 84865521886     PISSN: 10408738     EISSN: 15317021     Source Type: Journal    
DOI: 10.1097/ICU.0b013e32835622b0     Document Type: Review

References (73)

1. Coleman P, Barnard NA. Congenital hypertrophy of the retinal pigment epithelium: prevalence and ocular features in the optometric population. Ophthalmic Physiol Opt 2007; 27:547-555. (Pubitemid 47621768)
2. Champion R, Daicker BC. Congenital hypertrophy of the pigment epithelium: light microscopic and ultrastructural findings in young children. Retina 1989; 9:44-48. (Pubitemid 19106253)
3. Jones IS, Reese AB. Benign melanomas of the retinal pigment epithelium. Am J Ophthalmol 1956; 42:207-212.
4. Kurz GH, Zimmerman LE. Vagaries of the retinal pigment epithelium. Int Ophthalmol Clin 1962; 2:441-464.
5. Buettner H. Congenital hypertrophy of the retinal pigment epithelium. Am J Ophthalmol 1975; 79:177-189.
6. Traboulsi EI, Krush AJ, Gardner EJ, et al. Prevalence and importance of pigmented ocular fundus lesions in Gardner's syndrome. N Engl J Med 1987; 316:661-667. (Pubitemid 17032951)
7. Lewis RA, Crowder WE, Eierman LA, et al. The Gardner syndrome. Significance of ocular features. Ophthalmology 1984; 91:916-925. (Pubitemid 14057309)
8. Purcell JJ Jr, Shields JA. Hypertrophy with hyperpigmentation of the retinal pigment epithelium. Arch Ophthalmol 1975; 93:1122-1126.
9. Norris JL, Cleasby GW. An unusual case of congenital hypertrophy of the retinal pigment epithelium. Arch Ophthalmol 1976; 94:1910-1911. (Pubitemid 8258107)
10. Boldrey EE, Schwartz A. Enlargement of congenital hypertrophy of the retinal pigment epithelium. Am J Ophthalmol 1982; 94:64-66. (Pubitemid 12080551)
11. Cleary PE, Gregor Z, Bird AC. Retinal vascular changes in congenital hypertrophy of the retinal pigment epithelium. Br J Ophthalmol 1976; 60:499-503.
12. Shields CL, Pirondini C, Bianciotto C, et al. Autofluorescence of congenital hypertrophy of the retinal pigment epithelium. Retina 2007; 27:1097-1100. (Pubitemid 350304014)
13. Shields CL, Materin MA, Walker C, et al. Photoreceptor loss overlying congenital hypertrophy of the retinal pigment epithelium by optical coherence tomography. Ophthalmology 2006; 113:661-665.
14. Blair NP, Trempe CL. Hypertrophy of the retinal pigment epithelium associated with Gardner's syndrome. Am J Ophthalmol 1980; 90:661-667. (Pubitemid 11250555)
15. Shields JA, Shields CL, Shah PG, et al. Lack of association among typical congenital hypertrophy of the retinal pigment epithelium, adenomatous polyposis, and Gardner syndrome. Ophthalmology 1992; 99:1709-1713.
16. Shields JA, Shields CL, Singh AD. Acquired tumors arising from congenital hypertrophy of the retinal pigment epithelium. Arch Ophthalmol 2000; 118:637-641. (Pubitemid 30327340)
17. Shields JA, Eagle RC Jr, Shields CL, et al. Malignant transformation of congenital hypertrophy of the retinal pigment epithelium. Ophthalmology 2009; 116:2213-2216.
18. Santos A, Morales L, Hernandez-Quintela E, et al. Congenital hypertrophy of the retinal pigment epithelium associated with familial adenomatous polyposis. Retina 1994; 14:6-9. (Pubitemid 24119494)
19. Gass JD. Focal congenital anomalies of the retinal pigment epithelium. Eye 1989; 3 (Pt 1):1-18. (Pubitemid 19092077)
20. Wirz K, Lee WR, Coaker T. Progressive changes in congenital hypertrophy of the retinal pigment epithelium. Graefes Arch Clin Exp Ophthalmol 1982; 219:214-221. (Pubitemid 13247325)
21. Lloyd WCd, Eagle RC Jr, Shields JA, et al. Congenital hypertrophy of the retinal pigment epithelium. Electron microscopic and morphometric observations. Ophthalmology 1990; 97:1052-1060. (Pubitemid 20251137)
22. Mauthner L. A Textbook of Ophthalmoscopy. Viena: Tendler, 1868.
23. Hoeg N. Grouped pigmentation of the ocular fundus. Klin Monatsbl Augenheilkd 1911; 49:49-77.
24. Egerer I. Congenital grouped pigmentation of the retina (author's transl). Klin Monatsbl Augenheilkd 1976; 168:672-677.
25. de Jong PT, Delleman JW. Familial grouped pigmentation of the retinal pigment epithelium. Br J Ophthalmol 1988; 72:439-441.
26. Renardel de Lavalette VW, Cruysberg JR, Deutman AF. Familial congenital grouped pigmentation of the retina. Am J Ophthalmol 1991; 112:406-409.
27. Mann WAJ. Grouped pigmentation of the retina. Arch Ophthalmol 1932; 8:66-71.
28. Blake EM. Congenital grouped pigmentation of the retina. Tr Am Ophthalmol Soc 1926; 24:223-233.
29. Shields JA, Tso MO. Congenital grouped pigmentation of the retina. Histopathologic description and report of a case. Arch Ophthalmol 1975; 93:1153.
30. de Jong PTVM, Delleman JW, Witmer JP, Zeilstra C. Rieger's anomaly with retinal pigmentations. Ophthalmologica 1979; 178:107-108.
31. Yoshida T, Adachi-Usami E, Kimura T. Three cases of grouped pigmentation of the retina. Ophthalmologica 1995; 209:101-105.
32. McGregor IS. Macular coloboma with bilateral grouped pigmentation of the retina. Br J Ophthalmol 1945; 39:132-136.
33. Regillo CD, EagleRCJr, Shields JA, et al. Histopathologic findings in congenital grouped pigmentation of the retina. Ophthalmology 1993; 100:400-405. (Pubitemid 23088541)
34. Siddiqui AM, Everman DB, Rogers RC, et al. Microcephaly and congenital grouped pigmentation of the retinal pigment epithelium associated with submicroscopic deletions of 13q33.3-q34 and 11p15.4. Ophthalmic Genet 2009; 30:136-141.
35. Gardner EJ. A genetic and clinical study of intestinal polyposis, a predisposing factor for carcinoma of the colon and rectum. Am J Human Genet 1951; 3:167-176.
36. Gardner EJ, Richards RC. Multiple cutaneous and subcutaneous lesions occurring simultaneously with hereditary polyposis and osteomatosis. Am J Human Genet 1953; 5:139-147.
37. Burger B, Cattani N, Trueb S, et al. Prevalence of skin lesions in familial adenomatous polyposis: a marker for presymptomatic diagnosis? Oncologist 2011; 16:1698-1705.
38. Krush AJ, Traboulsi EI, Offerhaus JA, et al. Hepatoblastoma, pigmented ocular fundus lesions and jaw lesions in Gardner syndrome. Am J Med Genet 1988; 29:323-332. (Pubitemid 18068256)
39. Jones EL, Cornell WP. Gardner's syndrome; review of the literature and report on a family. Arch Surg 1966; 92:287-300.
40. Whitson WE, Orcutt JC, Walkinshaw MD. Orbital osteoma in Gardner's syndrome. Am J Ophthalmol 1986; 101:236-241. (Pubitemid 16136584)
41. Traboulsi EI, Maumenee IH, Krush AJ, et al. Pigmented ocular fundus lesions in the inherited gastrointestinal polyposis syndromes and in hereditary nonpolyposis colorectal cancer. Ophthalmology 1988; 95:964-969.
42. Munden PM, Sobol WM, Weingeist TA. Ocular findings in Turcot syndrome (glioma-polyposis). Ophthalmology 1991; 98:111-114.
43. Stein EA, Brady KD. Ophthalmologic and electro-oculographic findings in Gardner's syndrome. Am J Ophthalmol 1988; 106:326-331.
44. Romania A, Zakov ZN, McGannon E, et al. Congenital hypertrophy of the retinal pigment epithelium in familial adenomatous polyposis. Ophthalmology 1989; 96:879-884. (Pubitemid 19165117)
45. Szwarcberg J, Limacher JM, Fricker JP, Flament J. Congenital hypertrophy of retinal pigment epithelium: a marker in familial adenomatous polyposis. J Fr Ophtalmol 1999; 22:364-370. (Pubitemid 29206950)
46. Chen CS, Phillips KD, Grist S, et al. Congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial colorectal cancer. Fam Cancer 2006; 5:397-404. (Pubitemid 44924117)
47. Tiret A, Parc C. Fundus lesions of adenomatous polyposis. Curr Opin Ophthalmol 1999; 10:168-172. (Pubitemid 29263939)
48. Gebert HF, Jagelman DG, McGannon E. Familial polyposis coli. Am Fam Physician 1986; 33:127-137. (Pubitemid 16105280)
49. Offerhaus GJ, Levin LS, Giardiello FM, et al. Occult radiopaque jaw lesions in familial adenomatous polyposis coli and hereditary nonpolyposis colorectal cancer. Gastroenterology 1987; 93:490-497. (Pubitemid 17130851)
50. Parisi ML. Congenital hypertrophy of the retinal pigment epithelium serves as a clinical marker in a family with familial adenomatous polyposis. J Am Optom Assoc 1995; 66:106-112.
51. Tourino R, Conde-Freire R, Cabezas-Agricola JM, et al. Value of the congenital hypertrophy of the retinal pigment epithelium in the diagnosis of familial adenomatous polyposis. Int Ophthalmol 2004; 25:101-112. (Pubitemid 38801846)
52. Kasner L, Traboulsi EI, Delacruz Z, Green WR. A histopathologic study of the pigmented fundus lesions in familial adenomatous polyposis. Retina 1992; 12:35-42.
53. Traboulsi EI, Murphy SF, DeLaCruz ZC, et al. A clinicopathologic study of the eyes in familial adenomatous polyposis with extracolonic manifestations (Gardner's syndrome). Am J Ophthalmol 1990; 110:550-561. (Pubitemid 20360686)
54. Bodmer WF, Bailey CJ, Bodmer J, et al. Localization of the gene for familial adenomatous polyposis on chromosome 5. Nature 1987; 328:614-616. (Pubitemid 17103960)
55. Dunlop MG, Wyllie AH, Steel CM, et al. Linked DNA markers for presymptomatic diagnosis of familial adenomatous polyposis. Lancet 1991; 337:313-316.
56. Leppert M, Dobbs M, Scambler P, et al. The gene for familial polyposis coli maps to the long arm of chromosome 5. Science 1987; 238:1411-1413. (Pubitemid 18015963)
57. Meera Khan P, Tops CM, v.d. Broek M, et al. Close linkage of a highly polymorphic marker (D5S37) to familial adenomatous polyposis (FAP) and confirmation of FAP localization on chromosome 5q21-q22. Hum Genet 1988; 79:183-185.
58. Groden J, Thliveris A, Samowitz W, et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 1991; 66:589-600.
59. Kinzler KW, Nilbert MC, Su LK, et al. Identification of FAP locus genes from chromosome 5q21. Science 1991; 253:661-665. (Pubitemid 21917199)
60. Caspari R, Friedl W, Boker T, et al. Predictive diagnosis in familial adenomatous polyposis: evaluation of molecular genetic and ophthalmologic methods. Z Gastroenterol 1993; 31:646-652. (Pubitemid 23350745)
61. Giardiello FM, Krush AJ, Petersen GM, et al. Phenotypic variability of familial adenomatous polyposis in 11 unrelated families with identical APC gene mutation. Gastroenterology 1994; 106:1542-1547. (Pubitemid 24163124)
62. Koorey DJ, McCaughan GW, Trent RJ, Gallagher ND. Exon eight APC mutations account for a disproportionate number of familial adenomatous polyposis families. Hum Mutat 1994; 3:12-18. (Pubitemid 24023910)
63. Paul P, Letteboer T, Gerlbert L, et al. Identical APC exon 15 mutations result in a variable phenotype in familial adenomatous polyposis. Hum Mol Genet 1993; 2:925-931. (Pubitemid 23216623)
64. Spirio L, Olschwang S, Groden J, et al. Alleles of the APC gene: an attenuated form of familial polyposis. Cell 1993; 75:951-957. (Pubitemid 24014551)
65. Olschwang S, Tiret A, Laurent-Puig P, et al. Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients. Cell 1993; 75:959-968. (Pubitemid 24014552)
66. Traboulsi EI, Apostolides J, Giardiello FM, et al. Pigmented ocular fundus lesions and APC mutations in familial adenomatous polyposis. Ophthalmic Genet 1996; 17:167-174. (Pubitemid 27067556)
67. Wallis YL, Macdonald F, Hulten M, et al. Genotype-phenotype correlation between position of constitutional APC gene mutation and CHRPE expression in familial adenomatous polyposis. Hum Genet 1994; 94:543-548. (Pubitemid 24340670)
68. Valanzano R, Cama A, Volpe R, et al. Congenital hypertrophy of the retinal pigment epithelium in familial adenomatous polyposis. Novel criteria of assessment and correlations with constitutional adenomatous polyposis coli gene mutations. Cancer 1996; 78:2400-2410. (Pubitemid 26392841)
69. Aiello LP, Traboulsi EI. Pigmented fundus lesions in a preterm infant with familial adenomatous polyposis. Arch Ophthalmol 1993; 111:302-303. (Pubitemid 23085962)
70. Fuhrmann C, Bopp S, Laqua H. Congenital grouped albinotic spots: a rare anomaly of the retinal pigment epithelium. Ger J Ophthalmol 1992; 1:103-104.
71. Offret H, Offret M, Offret O, Labetoulle M. Congenital grouped albinotic spots: a case report. J Fr Ophtalmol 2007; 30:e26.
72. Karacorlu SA, Karacorlu M, Ozdemir H, Sanisoglu H. Indocyanine green angiographic findings in congenital grouped albinotic spots. Retina 2006; 26:470-472. (Pubitemid 44197641)
73. Golchet PR, Jampol LM, Mathura JR Jr, Daily MJ. Torpedo maculopathy. Br J Ophthalmol 2010; 94:302-306.