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The characterization of functional disturbances in Chinese patients with Bietti’s crystalline dystrophy at different fundus stages

Graefe's Archive for Clinical and Experimental Ophthalmology volume 250, pages 191–200 (2012)Cite this article

Abstract

Purpose

The aim of this study was to characterize the functional and clinical disturbances and screen the optimal functional tests in assessing Bietti’s crystalline dystrophy (BCD) patients by a cross-sectional method.

Methods

The clinical characteristics of BCD were studied in 15 Chinese patients using fundoscopy, fundus fluorescein angiography (FFA), and autofluorescence (AF). The functional features were evaluated by full-field electroretinography (fERG), 85º and 30º perimetry, multifocal ERG (mERG), and chromatic pupillometry.

Results

The 15 patients were separated into three clinical stages according to their fundus features. fERG- and mERG- showed reduced reponses in the early stages. Substages could be further defined according to the fERG results in the intermediate stages. Reduced pupillary light reflex (PLR) activities with blue-and white-light stumili existed in all patients. The most reduced PLR activities were elicited in the advanced stage of patients who had other nonresponsive functional tests.

Conclusions

This study identified the most sensitive functional methods for assessing BCD patients, and the significance of PLR in the advanced stages. In addition, the defined-substages can help us understand the disease more clearly.

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Reference

  1. Bietti GB (1937) Su alcune forme atipiche o rare di degenerazione retinica (degenerazione tappetoretiniche e quadri morbosi similari). Boll Oculist 16:1159–1244

    Google Scholar 

  2. Yokoi Y, Nakazawa M, Mizukoshi S, Sato K, Usui T, Takeuchi K (2010) Crystal deposits on the lens capsules in Bietti crystalline corneoretinal dystrophy associated with a mutation in the CYP4V2 gene. Acta Ophthalmol 88:607–609

    PubMed  CAS  Google Scholar 

  3. Jin ZB, Ito S, Saito Y, Inoue Y, Yanagi Y, Nao-I N (2006) Clinical and molecular findings in three Japanese patients with crystalline retinopathy. Jpn J Ophthalmol 50:426–431

    Article  PubMed  CAS  Google Scholar 

  4. Lai TY, Chu KO, Chan KP, Ng TK, Yam GH, Lam DS, Pang CP (2010) Alterations in serum fatty acid concentrations and desaturase activities in Bietti crystalline dystrophy unaffected by CYP4V2 genotypes. Invest Ophthalmol Vis Sci 51:1092–1097

    Article  PubMed  Google Scholar 

  5. Lin J, Nishiguchi KM, Nakamura M, Dryja TP, Berson EL, Miyake Y (2005) Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy. J Med Genet 42:e38

    Article  PubMed  CAS  Google Scholar 

  6. Tabatabaei A, Soleimani M, Moghimi S, Kiarudi MY (2009) A case of Bietti crystalline dystrophy with preserved visual acuity and extinguished electroretinogram: a case report. Cases J 2:7100

    Article  PubMed  Google Scholar 

  7. Chen H, Zhang M, Huang S, Wu D (2008) Functional and clinical findings in 3 female siblings with crystalline retinopathy. Doc Ophthalmol 116:237–243

    Article  PubMed  Google Scholar 

  8. Mansour AM, Uwaydat SH, Chan CC (2007) Long-term follow-up in Bietti crystalline dystrophy. Eur J Ophthalmol 17:680–682

    PubMed  CAS  Google Scholar 

  9. Fong AM, Koh A, Lee K, Ang CL (2008) Bietti's crystalline dystrophy in Asians: clinical, angiographic and electrophysiological characteristics. Int Ophthalmol 29:459–470

    Article  Google Scholar 

  10. Mataftsi A, Zografos L, Milla E, Secretan M, Munier FL (2004) Bietti's crystalline corneoretinal dystrophy: a cross-sectional study. Retina 24:416–426

    Article  PubMed  Google Scholar 

  11. Kretschmann U, Usui T, Ruether K, Zrenner E (1996) Electroretinographic campimetry in a patient with crystalline retinopathy. Ger J Ophthalmol 5:399–403

    PubMed  CAS  Google Scholar 

  12. Usui T, Tanimoto N, Takagi M, Hasegawa S, Abe H (2001) Rod and cone a-waves in three cases of Bietti crystalline chorioretinal dystrophy. Am J Ophthalmol 132:395–402

    Article  PubMed  CAS  Google Scholar 

  13. Hattar S, Lucas RJ, Mrosovsky N, Thompson S, Douglas RH, Hankins MW, Lem J, Biel M, Hofmann F, Foster RG, Yau KW (2003) Melanopsin and rod–cone photoreceptive systems account for all major accessory visual functions in mice. Nature 424:76–81

    Article  PubMed  CAS  Google Scholar 

  14. Trejo LJ, Cicerone CM (1982) Retinal sensitivity measured by the pupillary light reflex in RCS and albino rats. Vision Res 22:1163–1171

    Article  PubMed  CAS  Google Scholar 

  15. Kardon R, Anderson SC, Damarjian TG, Grace EM, Stone E, Kawasaki A (2009) Chromatic pupil responses: preferential activation of the melanopsin-mediated versus outer hotoreceptor-mediated pupil light reflex. Ophthalmology 116:1564–1573

    Article  PubMed  Google Scholar 

  16. Jiang MQ, Thompson HS (1985) Pupillary defects in retinitis pigmentosa. Am J Ophthalmol 99:607–608

    PubMed  CAS  Google Scholar 

  17. Wride N, Habib M, Morris K, Campbell S, Fraser S (2009) Clinical evaluation of a rapid pupil-based assessment of retinal damage associated with glaucoma. Clin Ophthalmol 3:123–128

    PubMed  Google Scholar 

  18. Zaidi FH, Moseley MJ (2004) Use of pupil size and reaction to detect orbital trauma during and after surgery. Clin Otolaryngol Allied Sci 29:288–289, author reply 290

    Article  PubMed  Google Scholar 

  19. Marmor MF, Fulton AB, Holder GE, Miyake Y, Brigell M, Bach M (2009) ISCEV Standard for full-field clinical electroretinography (2008 update). Doc Ophthalmol 118:69–77

    Article  PubMed  CAS  Google Scholar 

  20. Lee KY, Koh AH, Aung T, Yong VH, Yeung K, Ang CL, Vithana EN (2005) Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations. Invest Ophthalmol Vis Sci 46:3812–3816

    Article  PubMed  Google Scholar 

  21. Aleman TS, Jacobson SG, Chico JD, Scott ML, Cheung AY, Windsor EA, Furushima M, Redmond TM, Bennett J, Palczewski K, Cideciyan AV (2004) Impairment of the transient pupillary light reflex in Rpe65(−/−) mice and humans with leber congenital amaurosis. Invest Ophthalmol Vis Sci 45:1259–1271

    Article  PubMed  Google Scholar 

  22. Li A, Jiao X, Munier FL, Schorderet DF, Yao W, Iwata F, Hayakawa M, Kanai A, Shy Chen M, Alan Lewis R, Heckenlively J, Weleber RG, Traboulsi EI, Zhang Q, Xiao X, Kaiser-Kupfer M, Sergeev YV, Hejtmancik JF (2004) Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. Am J Hum Genet 74:817–826

    Article  PubMed  CAS  Google Scholar 

  23. Wilson DJ, Weleber RG, Klein ML, Welch RB, Green WR (1989) Bietti's crystalline dystrophy. A clinicopathologic correlative study. Arch Ophthalmol 107:213–221

    Article  PubMed  CAS  Google Scholar 

  24. Jurklies B, Jurklies C, Schmidt U, Wessing A, Bornfeld N (2001) Corneoretinal dystrophy (Bietti) — Long-term course of one patient over a period of 30 years, and interindividual variability of clinical and electrophysiological findings in two patients. Klin Monatsbl Augenheilkd 218:562–569

    Article  PubMed  CAS  Google Scholar 

  25. Gaucher D, Saleh M, Sauer A, Bourcier T, Speeg-Schatz C (2010) Spectral OCT analysis in Bietti crystalline dystrophy. Eur J Ophthalmol 20:612–614

    PubMed  Google Scholar 

  26. Zenteno JC, Ayala-Ramirez R, Graue-Wiechers F (2008) Novel CYP4V2 gene mutation in a Mexican patient with Bietti's crystalline corneoretinal dystrophy. Curr Eye Res 33:313–318

    Article  PubMed  CAS  Google Scholar 

  27. Tabatabaei A, Soleimani M, Moghimi S, Kiarudi MY (2009) A case of Bietti crystalline dystrophy with preserved visual acuity and extinguished electroretinogram: a case report. Cases J 2:7100

    Article  PubMed  Google Scholar 

  28. Schweitzer NM, Bouman MA (1958) Differential threshold measurements on the light reflex of the human pupil. AMA Arch Ophthalmol 59:541–550

    Article  PubMed  CAS  Google Scholar 

  29. Lucas RJ, Douglas RH, Foster RG (2001) Characterization of an ocular photopigment capable of driving pupillary constriction in mice. Nat Neurosci 4:621–626

    Article  PubMed  CAS  Google Scholar 

  30. Grozdanic SD, Matic M, Sakaguchi DS, Kardon RH (2007) Evaluation of retinal status using chromatic pupil light reflex activity in healthy and diseased canine eyes. Invest Ophthalmol Vis Sci 48:5178–5183

    Article  PubMed  Google Scholar 

  31. Kardon R, Anderson SC, Damarjian TG, Grace EM, Stone E, Kawasaki A (2011) Chromatic pupillometry in patients with retinitis pigmentosa. Ophthalmology 118:376–381

    Article  PubMed  Google Scholar 

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Acknowledgments

This work was supported by the National Basic Research Program of China (973 Program, No. 2007CB512203) and the Innovation and Clinical Technology Fund of Southwest Hospital, Third Military Medical University, Chongqing, China (SWH2007007). The authors thank all of the patients who participated in the study and their family members. They also thank Zhenglin Yang at the Molecular Biology Lab, People's Hospital of Sichuan Province, China, for supporting the genetic study of BCD. The authors thank Dr. T. FitzGibbon for comments and suggestions on earlier drafts of the paper.

Financial disclosures

The authors have no proprietary or commercial interest in any of the materials discussed in this article.

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Author notes

  1. Dan Ning Liu

    Present address: Department of Ophthalmology, The Second Affiliated Hospital, Chongqing Medical University, Chongqing, 400010, China

Authors and Affiliations

  1. Southwest Hospital, Southwest Eye Hospital, Third Military Medical University, Chongqing, 400038, China

    Dan Ning Liu, Yong Liu, Xiao Hong Meng & Zheng Qin Yin

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  1. Dan Ning Liu
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  2. Yong Liu
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Corresponding author

Correspondence to Zheng Qin Yin.

Additional information

All of the authors have full control of all primary data, and they agree to allow Graefe's Archive for Clinical and Experimental Ophthalmology to review the data upon request. The clinical trials had been registered in Chinese Clinical Trial Registry (ChiCTR-TRC-00000411).

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Liu, D.N., Liu, Y., Meng, X.H. et al. The characterization of functional disturbances in Chinese patients with Bietti’s crystalline dystrophy at different fundus stages. Graefes Arch Clin Exp Ophthalmol 250, 191–200 (2012). https://doi.org/10.1007/s00417-011-1809-3

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  • DOI: https://doi.org/10.1007/s00417-011-1809-3

Keywords

  • Bietti’s crystalline dystrophy
  • Fundoscopy
  • Fundus fluorescein angiography
  • Autofluorescence
  • Full-field electroretinography
  • Perimetry
  • Multifocal ERG
  • Chromatic pupillometry