Electronegative electroretinogram in mucolipidosis IV

Shan M. Pradhan, La Ongsri Atchaneeyasakul, Binoy Appukuttan, Robert N. Mixon, Trevor J. McFarland, Andrea M. Billingslea, David Wilson, J. Timothy Stout, Richard Weleber

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

Objective: To demonstrate the progression of electroretinographic (ERG) findings in mucolipidosis IV. Methods: Two patients with mucolipidosis IV were examined clinically and their condition was followed up for ophthalmic manifestations of the disease. Electroretinograms were performed on both patients, and conjunctival biopsy specimens were analyzed for characteristic ultrastructural inclusion bodies using light and electron microscopy. Genomic DNA isolated from peripheral blood was screened for 2 major founder mutations in the ML4 gene using polymerase chain reaction and restriction fragment length polymorphism analyses. Haplotypes were confirmed by automated sequencing of polymerase chain reaction products. Results: In patient 1, an ERG obtained at 12 months of age showed mildly subnormal amplitude of rod-mediated and cone-mediated responses and significantly prolonged rod and cone b-wave implicit times. An ERG obtained when the patient was 6.6 years old disclosed marked progression with greater loss of b-wave than a-wave responses to rod-and-cone-mediated activity. Scotopic ERG at the highest intensity was electronegative in configuration. In patient 2, ERG showed minimal rod-mediated responses, severely subnormal cone-mediated responses, and prolonged cone b-wave implicit times. Again, electronegative configuration of the scotopic bright flash response indicated greater disturbance of b-wave generators. Conclusions: Novel ERG findings in 2 cases of mucolipidosis IV are reported with associated clinical courses, histopathologic abnormality, and genetic studies. In both cases ERGs demonstrate an electronegative configuration, suggesting that the primary retinal disturbance in mucolipidosis IV may occur at or proximal to the photoreceptor terminals.

Original languageEnglish (US)
Pages (from-to)45-50
Number of pages6
JournalArchives of Ophthalmology
Volume120
Issue number1
StatePublished - 2002

Fingerprint

Mucolipidoses
Vertebrate Photoreceptor Cells
Eye Manifestations
Polymerase Chain Reaction
Eye Diseases
Inclusion Bodies
Restriction Fragment Length Polymorphisms
Haplotypes
Electron Microscopy
Biopsy
Light
Mutation
DNA
Genes

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Pradhan, S. M., Atchaneeyasakul, L. O., Appukuttan, B., Mixon, R. N., McFarland, T. J., Billingslea, A. M., ... Weleber, R. (2002). Electronegative electroretinogram in mucolipidosis IV. Archives of Ophthalmology, 120(1), 45-50.

Electronegative electroretinogram in mucolipidosis IV. / Pradhan, Shan M.; Atchaneeyasakul, La Ongsri; Appukuttan, Binoy; Mixon, Robert N.; McFarland, Trevor J.; Billingslea, Andrea M.; Wilson, David; Timothy Stout, J.; Weleber, Richard.

In: Archives of Ophthalmology, Vol. 120, No. 1, 2002, p. 45-50.

Research output: Contribution to journalArticle

Pradhan, SM, Atchaneeyasakul, LO, Appukuttan, B, Mixon, RN, McFarland, TJ, Billingslea, AM, Wilson, D, Timothy Stout, J & Weleber, R 2002, 'Electronegative electroretinogram in mucolipidosis IV', Archives of Ophthalmology, vol. 120, no. 1, pp. 45-50.
Pradhan SM, Atchaneeyasakul LO, Appukuttan B, Mixon RN, McFarland TJ, Billingslea AM et al. Electronegative electroretinogram in mucolipidosis IV. Archives of Ophthalmology. 2002;120(1):45-50.
Pradhan, Shan M. ; Atchaneeyasakul, La Ongsri ; Appukuttan, Binoy ; Mixon, Robert N. ; McFarland, Trevor J. ; Billingslea, Andrea M. ; Wilson, David ; Timothy Stout, J. ; Weleber, Richard. / Electronegative electroretinogram in mucolipidosis IV. In: Archives of Ophthalmology. 2002 ; Vol. 120, No. 1. pp. 45-50.
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abstract = "Objective: To demonstrate the progression of electroretinographic (ERG) findings in mucolipidosis IV. Methods: Two patients with mucolipidosis IV were examined clinically and their condition was followed up for ophthalmic manifestations of the disease. Electroretinograms were performed on both patients, and conjunctival biopsy specimens were analyzed for characteristic ultrastructural inclusion bodies using light and electron microscopy. Genomic DNA isolated from peripheral blood was screened for 2 major founder mutations in the ML4 gene using polymerase chain reaction and restriction fragment length polymorphism analyses. Haplotypes were confirmed by automated sequencing of polymerase chain reaction products. Results: In patient 1, an ERG obtained at 12 months of age showed mildly subnormal amplitude of rod-mediated and cone-mediated responses and significantly prolonged rod and cone b-wave implicit times. An ERG obtained when the patient was 6.6 years old disclosed marked progression with greater loss of b-wave than a-wave responses to rod-and-cone-mediated activity. Scotopic ERG at the highest intensity was electronegative in configuration. In patient 2, ERG showed minimal rod-mediated responses, severely subnormal cone-mediated responses, and prolonged cone b-wave implicit times. Again, electronegative configuration of the scotopic bright flash response indicated greater disturbance of b-wave generators. Conclusions: Novel ERG findings in 2 cases of mucolipidosis IV are reported with associated clinical courses, histopathologic abnormality, and genetic studies. In both cases ERGs demonstrate an electronegative configuration, suggesting that the primary retinal disturbance in mucolipidosis IV may occur at or proximal to the photoreceptor terminals.",
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AU - Atchaneeyasakul, La Ongsri

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AU - Mixon, Robert N.

AU - McFarland, Trevor J.

AU - Billingslea, Andrea M.

AU - Wilson, David

AU - Timothy Stout, J.

AU - Weleber, Richard

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N2 - Objective: To demonstrate the progression of electroretinographic (ERG) findings in mucolipidosis IV. Methods: Two patients with mucolipidosis IV were examined clinically and their condition was followed up for ophthalmic manifestations of the disease. Electroretinograms were performed on both patients, and conjunctival biopsy specimens were analyzed for characteristic ultrastructural inclusion bodies using light and electron microscopy. Genomic DNA isolated from peripheral blood was screened for 2 major founder mutations in the ML4 gene using polymerase chain reaction and restriction fragment length polymorphism analyses. Haplotypes were confirmed by automated sequencing of polymerase chain reaction products. Results: In patient 1, an ERG obtained at 12 months of age showed mildly subnormal amplitude of rod-mediated and cone-mediated responses and significantly prolonged rod and cone b-wave implicit times. An ERG obtained when the patient was 6.6 years old disclosed marked progression with greater loss of b-wave than a-wave responses to rod-and-cone-mediated activity. Scotopic ERG at the highest intensity was electronegative in configuration. In patient 2, ERG showed minimal rod-mediated responses, severely subnormal cone-mediated responses, and prolonged cone b-wave implicit times. Again, electronegative configuration of the scotopic bright flash response indicated greater disturbance of b-wave generators. Conclusions: Novel ERG findings in 2 cases of mucolipidosis IV are reported with associated clinical courses, histopathologic abnormality, and genetic studies. In both cases ERGs demonstrate an electronegative configuration, suggesting that the primary retinal disturbance in mucolipidosis IV may occur at or proximal to the photoreceptor terminals.

AB - Objective: To demonstrate the progression of electroretinographic (ERG) findings in mucolipidosis IV. Methods: Two patients with mucolipidosis IV were examined clinically and their condition was followed up for ophthalmic manifestations of the disease. Electroretinograms were performed on both patients, and conjunctival biopsy specimens were analyzed for characteristic ultrastructural inclusion bodies using light and electron microscopy. Genomic DNA isolated from peripheral blood was screened for 2 major founder mutations in the ML4 gene using polymerase chain reaction and restriction fragment length polymorphism analyses. Haplotypes were confirmed by automated sequencing of polymerase chain reaction products. Results: In patient 1, an ERG obtained at 12 months of age showed mildly subnormal amplitude of rod-mediated and cone-mediated responses and significantly prolonged rod and cone b-wave implicit times. An ERG obtained when the patient was 6.6 years old disclosed marked progression with greater loss of b-wave than a-wave responses to rod-and-cone-mediated activity. Scotopic ERG at the highest intensity was electronegative in configuration. In patient 2, ERG showed minimal rod-mediated responses, severely subnormal cone-mediated responses, and prolonged cone b-wave implicit times. Again, electronegative configuration of the scotopic bright flash response indicated greater disturbance of b-wave generators. Conclusions: Novel ERG findings in 2 cases of mucolipidosis IV are reported with associated clinical courses, histopathologic abnormality, and genetic studies. In both cases ERGs demonstrate an electronegative configuration, suggesting that the primary retinal disturbance in mucolipidosis IV may occur at or proximal to the photoreceptor terminals.

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