Ocular and Orbital Manifestations of the Inherited Bone Marrow Failure Syndromes: Fanconi Anemia and Dyskeratosis Congenita

Ophthalmology

Volumn 117, Issue 3, 2010, Pages 615-622

  Tsilou, Ekaterini T ^a   Giri, Neelam ^b   Weinstein, Sarah ^b   Mueller, Christine ^b   Savage, Sharon A ^b   Alter, Blanche P ^b  

^a NATIONAL EYE INSTITUTE   (United States)

^b NATIONAL CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

A SCAN; ADOLESCENT; ADULT; AGED; ARTICLE; BLACKFAN DIAMOND ANEMIA; BLEPHARITIS; BONE MARROW DEPRESSION; CHILD; CLINICAL EVALUATION; COHORT ANALYSIS; CONGENITAL CATARACT; CORNEA; CORNEA DISEASE; CROSS-SECTIONAL STUDY; DIGITAL FACIAL PHOTOGRAPHY; DYSKERATOSIS CONGENITA; EPICANTHUS; EXUDATIVE RETINITIS; EYE AXIS LENGTH; EYE DISEASE; EYELASH; FANCONI ANEMIA; FEMALE; FOREHEAD; GENOTYPE; HUMAN; INFANT; INHERITED BONE MARROW FAILURE SYNDROME; INTERPUPILLARY DISTANCE; LACRIMAL DUCT OCCLUSION; MAJOR CLINICAL STUDY; MALE; MICROPHTHALMIA; NATIONAL HEALTH ORGANIZATION; OPHTHALMOLOGY; ORBIT DISEASE; PALPEBRAL FISSURE; PHENOTYPE; PHOTOGRAPHY; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; PTOSIS; PUPIL REFLEX; RELATIVE; RETINA DETACHMENT; RETINA DISEASE; RETINA NEOVASCULARIZATION; RETINA PIGMENT DEGENERATION; SCHOOL CHILD; SHWACHMAN SYNDROME; SYMPTOM; TRICHIASIS;

ADOLESCENT; ADULT; AGED; ANEMIA, DIAMOND-BLACKFAN; CHILD; CHILD, PRESCHOOL; CROSS-SECTIONAL STUDIES; DYSKERATOSIS CONGENITA; EYE ABNORMALITIES; EYE DISEASES, HEREDITARY; FANCONI ANEMIA; FEMALE; HUMANS; MALE; MIDDLE AGED; ORBITAL DISEASES; PEDIGREE; PREVALENCE; YOUNG ADULT;

EID: 77049088459     PISSN: 01616420     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ophtha.2009.08.023     Document Type: Article

References (47)

1. Alter B.P. Bone marrow failure syndromes in children. Pediatr Clin North Am 49 (2002) 973-988
2. Alter B.P. Bone marrow failure syndromes. Clin Lab Med 19 (1999) 113-133
3. Dokal I., and Vulliamy T. Inherited aplastic anaemias/bone marrow failure syndromes. Blood Rev 22 (2008) 141-153
4. Alter B.P. Diagnosis, genetics, and management of inherited bone marrow failure syndromes. Hematology Am Soc Hematol Educ Program (2007) 29-39
5. Savage S.A., and Alter B.P. The role of telomere biology in bone marrow failure and other disorders. Mech Ageing Dev 129 (2008) 35-47
6. Vulliamy T.J., Knight S.W., Mason P.J., and Dokal I. Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita. Blood Cells Mol Dis 27 (2001) 353-357
7. Vulliamy T.J., and Dokal I. Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex. Biochimie 90 (2008) 122-130
8. Alter B.P., Baerlocher G.M., Savage S.A., et al. Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita. Blood 110 (2007) 1439-1447
9. Glader B.E., and Backer K. Elevated red cell adenosine deaminase activity: a marker of disordered erythropoiesis in Diamond-Blackfan anaemia and other haematologic diseases. Br J Haematol 68 (1988) 165-168
10. Rothbaum R., Perrault J., Vlachos A., et al. Shwachman-Diamond syndrome: report from an international conference. J Pediatr 141 (2002) 266-270
11. Avner M., Henning P., Koren G., and Nulman I. Validation of the facial photographic method in fetal alcohol spectrum disorder screening and diagnosis. J FAS Int [serial online] 4 (2006) e20. http://www.motherisk.org/JFAS_documents/JFAS_6009-e20_10_10_06.pdf Accessed August 4, 2009
12. Hall J.G., Froster-Iskenius U.G., and Allanson J.E. Handbook of Normal Physical Measurements (1989), Oxford University Press, Oxford 132-157
13. Farkas L. Anthropometry of the Head and Face. 2nd ed. (1994), Raven Press, New York 272-284
14. Ramani K.K., Mani B., Ronnie G., et al. Gender variation in ocular biometry and ultrasound biomicroscopy of primary angle closure suspects and normal eyes. J Glaucoma 16 (2007) 122-128
15. Zadnik K., Mutti D.O., Mitchell G.L., et al. Normal eye growth in emmetropic schoolchildren. Optom Vis Sci 81 (2004) 819-828
16. Larsen J.S. The sagittal growth of the eye. 1. Ultrasonic measurement of the depth of the anterior chamber from birth to puberty. Acta Ophthalmol (Copenh) 49 (1971) 239-262
17. Vitale S., Ellwein L., Cotch M.F., et al. Prevalence of refractive error in the United States, 1999-2004. Arch Ophthalmol 126 (2008) 1111-1119
18. Macdougall L.G., Greeff M.C., Rosendorff J., and Bernstein R. Fanconi anemia in black African children. Am J Med Genet 36 (1990) 408-413
19. Bahar I., Weinberger D., Kramer M., and Axer-Siegel R. Retinal vasculopathy in Fanconi anemia: a case report. Retina 25 (2005) 799-800
20. Merriman M., Mora J., and McGaughran J. Fanconi anemia and primary cataracts: first case. Ophthalmic Genet 23 (2002) 253-255
21. Elgohary M.A., Lim K.S., Siriwardena D., et al. Increased crystalline lens thickness and phacomorphic glaucoma in patients with Fanconi anemia. J Cataract Refract Surg 32 (2006) 1771-1774
22. Aslan D., Ozdogan S., Onol M., et al. An unusual ocular manifestation in Fanconi anemia: congenital glaucoma. Am J Hematol 78 (2005) 64-66
23. Yahia S.B., Touffahi S.A., Zeghidi H., et al. Ocular neovascularization in a patient with Fanconi anemia. Can J Ophthalmol 41 (2006) 778-779
24. Gayatri N.A., Hughes M.I., Lloyd I.C., and Wynn R.F. Association of the congenital bone marrow failure syndromes with retinopathy, intracerebral calcification and progressive neurological impairment. Eur J Paediatr Neurol 6 (2002) 125-128
25. Aslan D., Ozdek S., Camurdan O., et al. Dyskeratosis congenita with corneal limbal insufficiency. Pediatr Blood Cancer 53 (2009) 95-97
26. Drachtman R.A., and Alter B.P. Dyskeratosis congenita: clinical and genetic heterogeneity. Report of a new case and review of the literature. Am J Pediatr Hematol Oncol 14 (1992) 297-304
27. Chambers J.K., and Salinas C.F. Ocular findings in dyskeratosis congenita. Birth Defects Orig Artic Ser 18 (1982) 167-174
28. Zagorski Z., Biziorek B., Rakowska E., and Jedrzejewski D. Zinsser-Engman-Cole syndrome (dyskeratosis congenita) with severe sicca syndrome, panuveitis and corneal perforation-a case report. [in German]. Klin Monatsbl Augenheilkd 218 (2001) 455-458
29. Sirinavin C., and Trowbridge A.A. Dyskeratosis congenita: clinical features and genetic aspects. Report of a family and review of the literature. J Med Genet 12 (1975) 339-354
30. Davidson H.R., and Connor J.M. Dyskeratosis congenita. J Med Genet 25 (1988) 843-846
31. Connor J.M., and Teague R.H. Dyskeratosis congenita: report of a large kindred. Br J Dermatol 105 (1981) 321-325
32. Reich H. Eye involvement in dyskeratosis congenita (Zinsser-Cole-Engman syndrome). [in German]. Klin Monatsbl Augenheilkd 161 (1972) 288-292
33. Merchant A., Zhao T.Z., and Foster C.S. Chronic keratoconjunctivitis associated with congenital dyskeratosis and erythrokeratodermia variables: two rare genodermatoses. Ophthalmology 105 (1998) 1286-1291
34. Womer R., Clark J.E., Wood P., et al. Dyskeratosis congenita: two examples of this multisystem disorder. Pediatrics 71 (1983) 603-609
35. Kawaguchi K., Sakamaki H., Onozawa Y., and Koike M. Dyskeratosis congenita (Zinsser-Cole-Engman syndrome): an autopsy case presenting with rectal carcinoma, non-cirrhotic portal hypertension, and Pneumocystis carinii pneumonia. Virchows Arch A Pathol Anat Histopathol 417 (1990) 247-253
36. Roth K., and Lange C.E. Fundus changes in Zinsser-Engman-Cole syndrome. [in German]. Klin Monatsbl Augenheilkd 166 (1975) 695-698
37. Nazir S., Sayani N., and Phillips P.H. Retinal hemorrhages in a patient with dyskeratosis congenita. J AAPOS 12 (2008) 415-417
38. Scheinfeld M.H., Lui Y.W., Kolb E.A., et al. The neuroradiological findings in a case of Revesz syndrome. Pediatr Radiol 37 (2007) 1166-1170
39. Teixeira L.F., Shields C.L., Marr B., et al. Bilateral retinal vasculopathy in a patient with dyskeratosis congenita. Arch Ophthalmol 126 (2008) 134-135
40. Revesz T., Fletcher S., al-Gazali L.I., and DeBuse P. Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?. J Med Genet 29 (1992) 673-675
41. Kajtar P., and Mehes K. Bilateral Coats retinopathy associated with aplastic anaemia and mild dyskeratotic signs. Am J Med Genet 49 (1994) 374-377
42. ason III J.O., Yunker J.J., et al. Proliferative retinopathy as a complication of dyskeratosis congenita. Retin Cases Brief Rep 3 (2009) 259-262
43. Willig T.N., Niemeyer C.M., Leblanc T., et al. Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients. Pediatr Res 46 (1999) 553-561
44. Ball S.E., McGuckin C.P., Jenkins G., and Gordon-Smith E.C. Diamond-Blackfan anaemia in the U.K.: analysis of 80 cases from a 20-year birth cohort. Br J Haematol 94 (1996) 645-653
45. Young T.L., Schaffer D.B., and Cohen A.R. Infantile glaucoma associated with the Diamond-Blackfan syndrome. J Pediatr Ophthalmol Strabismus 29 (1992) 55-58
46. Orfali K.A., Ohene-Abuakwa Y., and Ball S.E. Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity. Br J Haematol 125 (2004) 243-252
47. Kuze M., Matsubara H., and Uji Y. Ocular hypertelorism and exotropia as presenting signs in Diamond-Blackfan anemia. [letter]. Jpn J Ophthalmol 53 (2009) 67-68