International Journal of Keratoconus and Ectatic Corneal Diseases

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VOLUME 7 , ISSUE 2 ( July-December, 2018 ) > List of Articles

CASE REPORT

Mild Keratoconus in the Mother of a Patient with Down Syndrome: Case Report and Clinical Hypothesis

Marcella Q Salomão, Ana L Höfling-Lima, Fernando Faria-Correia, Bernardo T Lopes, Daniel G Dawson, Renato Ambrósio

Keywords : Corneal tomography, Corneal topography, Down syndrome, Forme fruste keratoconus, Keratoconus

Citation Information : Salomão MQ, Höfling-Lima AL, Faria-Correia F, Lopes BT, Dawson DG, Ambrósio R. Mild Keratoconus in the Mother of a Patient with Down Syndrome: Case Report and Clinical Hypothesis. Int J Kerat Ect Cor Dis 2018; 7 (2):115-120.

DOI: 10.5005/jp-journals-10025-1167

License: CC BY-NC 4.0

Published Online: 01-12-2018

Copyright Statement:  Copyright © 2018; Jaypee Brothers Medical Publishers (P) Ltd.


Abstract

The purpose of this study is to report a case of mild or forme fruste keratoconus (FFKC) in the mother of a patient with Down syndrome (DS) who presented for cataract surgery and to propose a possible association of mothers with mild forms of ectasia and higher risk for delivering babies with DS. Advanced corneal imaging including corneal topography, corneal tomography, and the integrated corneal tomography and biomechanical assessment allowed the identification of a mild form of keratoconus in both eyes of this patient, and the correct characterization of the corneal structure and whole optics of the eye were crucial for IOL selection and planning cataract surgery.


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  1. Loukovitis E, Sfakianakis K, Syrmakesi P, et al. Genetic Aspects of Keratoconus: A Literature Review Exploring Potential Genetic Contributions and Possible Genetic Relationships with Comorbidities. Ophthalmology and Therapy 2018.
  2. Rabinowitz YS. Keratoconus. Survey of Ophthalmology 1998;42:297-319.
  3. Kennedy RH, Bourne WM, Dyer JA. A 48-year clinical and epidemiologic study of keratoconus. American Journal of Ophthalmology 1986;101:267-273.
  4. Krachmer JH, Feder RS, Belin MW. Keratoconus and related noninflammatory corneal thinning disorders. Survey of Ophthalmology 1984;28:293-322.
  5. Belin MW, Duncan JK, Ambrósio Jr R, et al. A new tomographic method of grading keratoconus: the ABCD grading system. International Journal of Keratoconus and Ectatic Corneal Diseases 2015;4:85-93.
  6. Mahmoud AM, Nunez MX, Blanco C, et al. Expanding the cone location and magnitude index to include corneal thickness and posterior surface information for the detection of keratoconus. American journal of ophthalmology 2013;156:1102-1111.
  7. Alio JL, Pinero DP, Aleson A, et al. Keratoconus-integrated characterization considering anterior corneal aberrations, internal astigmatism, and corneal biomechanics. Journal of Cataract and Refractive Surgery 2011;37:552-568.
  8. Barsam A, Petrushkin H, Brennan N, et al. Acute corneal hydrops in keratoconus: a national prospective study of incidence and management. Eye (London, England) 2015;29:469-474.
  9. Pinero DP, Alio JL, Aleson A, et al. Corneal volume, pachymetry, and correlation of anterior and posterior corneal shape in subclinical and different stages of clinical keratoconus. Journal of Cataract and Refractive Surgery 2010;36:814-825.
  10. Salomao M, Guerra F, Ramos IC, et al. Accuracy of topometric indices for distinguishing between keratoconus and normal corneas. International Journal of Keratoconus and Ectatic Corneal Diseases 2013;2:5.
  11. Gatinel D SA. The Challenges of the Detection of Subclinical Keratoconus at Its Earliest Stage. International Journal of Keratoconus and Ectatic Corneal Diseases 2012;1:36-43.
  12. Binder PS, Lindstrom RL, Stulting RD, et al. Keratoconus and corneal ectasia after LASIK. Journal of Cataract and Refractive Surgery 2005;31:2035-2038.
  13. Binder PS. Ectasia after laser in situ keratomileusis. Journal of cataract and refractive surgery 2003;29:2419-2429.
  14. Seiler T. The paradigm change in keratoconus therapy. Indian journal of ophthalmology 2013;61:381.
  15. McGhee CN, Kim BZ, Wilson PJ. Contemporary Treatment Paradigms in Keratoconus. Cornea 2015;34 Suppl 10: S16-23.
  16. Ambrosio R Jr F-CF, Silva-Lopes I, Azevedo- Wagner A, et al. Paradigms, paradoxes and controversies on Keratoconus and corneal ectatic diseases. International Journal of Keratoconus and Ectatic Corneal Diseases 2018;7:35-49.
  17. Ambrosio R, Jr., Randleman JB. Screening for ectasia risk: what are we screening for and how should we screen for it? Journal of Refractive Surgery 2013;29:230-232.
  18. Ambrósio R, Lopes BT, Faria-Correia F, et al. Integration of Scheimpflug-Based Corneal Tomography and Biomechanical Assessments for Enhancing Ectasia Detection. Journal of Refractive Surgery 2017;33:434-443.
  19. Down JL. Observations on an ethnic classification of idiots.
  20. Mental Retardation 1995;33:54-56.
  21. Vicic A, Hafner T, Bekavac Vlatkovic I, et al. Prenatal diagnosis of Down syndrome: A 13-year retrospective study. Taiwanese Journal of Obstetrics & Gynecology 2017;56:731-735.
  22. Kim JH, Hwang JM, Kim HJ, et al. Characteristic ocular findings in Asian children with Down syndrome. Eye (London, England) 2002;16:710-714.
  23. Shapiro MB, France TD. The ocular features of Down's syn drome. American journal of ophthalmology 1985;99:659-663.
  24. Little JA, Woodhouse JM, Saunders KJ. Corneal power and astigmatism in Down syndrome. Optometry and vision science: official publication of the American Academy of Optometry 2009;86:748-754.
  25. Alio JL, Vega-Estrada A, Sanz P, et al. Corneal Morphologic Characteristics in Patients With Down Syndrome. JAMA ophthalmology 2018;136:971-978.
  26. Hestnes A, Sand T, Fostad K. Ocular findings in Down's syndrome. Journal of Mental Deficiency Research 1991;35(Pt 3): 194-203.
  27. Van Splunder J, Stilma JS, Bernsen RM, et al. Prevalence of ocular diagnoses found on screening 1539 adults with intellectual disabilities. Ophthalmology 2004;111: 1457-1463.
  28. Cullen JF, Butler HG. Mongolism (Down's Syndrome) And Keratoconus. The British Journal of Ophthalmology 1963;47:321-330.
  29. Zadnik K, Barr JT, Edrington TB, et al. Baseline findings in the Collaborative Longitudinal Evaluation of Keratoconus (CLEK) Study. Investigative ophthalmology & visual science 1998;39:2537-2546.
  30. Kenyon KR, Kidwell EJ. Corneal hydrops and keratoconus associated with mongolism. Archives of Ophthalmology (Chicago Ill: 1960) 1976;94:494-495.
  31. Valbon BdF, Santos RT, Ramos I, et al. A tomografia de córnea e segmento anterior na propedêutica do exame complementar na avaliação de ectasia. Revista Brasileira de Oftalmologia 2013;72: 54-58.
  32. Ambrosio R Jr, Ramos I, Lopes B, et al. Ectasia susceptibility before laser vision correction. Journal of cataract and refractive surgery 2015;41:1335-1336.
  33. Moshirfar M, Walker BD, Birdsong OC. Cataract surgery in eyes with keratoconus: a review of the current literature. Current opinion in ophthalmology 2018;29:75-80.
  34. Hallal R Jr, Ambrosio Jr R. the Importance of Screening for Ectatic Corneal Disease prior to Multifocal Intraocular Lens. International journal of keratoconus and ectatic corneal diseases 2018;7:1-6.
  35. Ambrosio R Jr, Klyce SD, Wilson SE. Corneal topographic and pachymetric screening of keratorefractive patients. Journal of Refractive Surgery 2003;19:24-29.
  36. Gomes JA, Tan D, Rapuano CJ, et al. Global consensus on keratoconus and ectatic diseases. Cornea 2015;34:359-369.
  37. Ambrosio R Jr, Nogueira LP, Caldas DL, et al. Evaluation of corneal shape and biomechanics before LASIK. International ophthalmology clinics 2011;51:11-38.
  38. Chan C, Ang M, Saad A, et al. Validation of an Objective Scoring System for Forme Fruste Keratoconus Detection and Post- LASIK Ectasia Risk Assessment in Asian Eyes. Cornea 2015;34: 996-1004.
  39. Saad A, Gatinel D. Validation of a new scoring system for the detection of early forme of keratoconus. International Journal of Keratoconus and Ectatic Corneal Diseases 2012;1: 100-108.
  40. Ambrosio R Jr, Valbon BF, Faria-Correia F, et al. Scheimpflug imaging for laser refractive surgery. Current opinion in ophthalmology 2013;24:310-320.
  41. Smadja D, Touboul D, Cohen A, et al. Detection of subclinical keratoconus using an automated decision tree classification. American journal of ophthalmology 2013;156:237-46.e1.
  42. Klyce SD. Chasing the suspect: keratoconus. The British Journal of Ophthalmology 2009;93:845-847.
  43. Wheeler J, Hauser MA, Afshari NA, et al. The Genetics of Keratoconus: A Review. Reproductive system & sexual disorders: current research 2012.
  44. Aknin C, Allart JF, Rouland JF. Unilateral keratoconus and mirror image in a pair of monozygotic twins. Journal Francais D'ophtalmologie 2007;30:899-902.
  45. Weed KH, MacEwen CJ, McGhee CN. The variable expression of keratoconus within monozygotic twins: dundee University Scottish Keratoconus Study (DUSKS). Contact lens & anterior eye. The Journal of the British Contact Lens Association 2006;29:123-126.
  46. Abu-Amero KK, Kalantan H, Al-Muammar AM. Analysis of the VSX1 gene in keratoconus patients from Saudi Arabia. Molecular Vision 2011;17:667-672.
  47. Stabuc-Silih M, Strazisar M, Ravnik-Glavac M, et al. Genetics and clinical characteristics of keratoconus. Acta dermatovenerologica Alpina, Pannonica, et Adriatica 2010;19:3-10.
  48. Hernandez D, Fisher EM. Down syndrome genetics: unravelling a multifactorial disorder. Human Molecular Genetics 1996;5 Spec No:1411-1416.
  49. Sherman SL, Petersen MB, Freeman SB, et al. Non-disjunction of chromosome 21 in maternal meiosis I: evidence for a maternal age-dependent mechanism involving reduced recombination. Human Molecular Genetics 1994;3:1529-1535.
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