Congenital and inherited ophthalmologic abnormalities

Priyanka Arora, Milind S. Tullu, Mamta N. Muranjan, Sheela P. Kerkar, K. M. Girisha, Burjor A. Bharucha

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Objective: To identify genetic disorders associated with ophthalmologic abnormalities; type and frequency of various ophthalmologic abnormalities associated with selected genetic and inherited disorders; and devise a suitable classification for ophthalmologic abnormalities. Methods: Pediatric cases referred with mental retardation, congenital malformations and suspected genetic and metabolic disorders were enrolled prospectively. Relevant clinical details (including an ophthalmologic examination) and investigations were recorded. Result: Of the 1308 patients enrolled, 679 (51.9%) had ophthalmologic abnormalities. 458 cases (67.45%) out of these 679 had mental retardation and 20 (2.94%) had neuroregression. Environmental (12.22%) and chromosomal anomalies (10.9%) were the largest etiological groups. Down syndrome was the commonest of the chromosomal anomalies and mongoloid slant and epicanthic folds were its commonest ophthalmologic features. Mucopolysaccharidoses (21.4%), Wilson disease (19.64%), oculocutaneous albinism (16.07%) and lipid storage disorders (14.29%) were the most common inborn errors of metabolism associated with ophthalmologic abnormalities. Of the 39 cases with Mendelian inheritance of disorders, autosomal dominant disorders (56.41%) were the commonest associated with ocular abnormalities. A simple anatomical classification has been devised for various ophthalmologic abnormalities encountered (wherein, positional and adnexal abnormalities were the commonest). Conclusion: Up to 50% of cases referred to the genetic services have ophthalmologic abnormalities. Conditions including chromosomal abnormalities, metabolic disorders, Mendelian syndromes and environmental factors are associated with ocular abnormalities. Anatomically, positional and adnexal abnormalities are the commonest.

Original languageEnglish
Pages (from-to)549-552
Number of pages4
JournalIndian Journal of Pediatrics
Volume70
Issue number7
Publication statusPublished - 01-07-2003

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Inborn Genetic Diseases
Eye Abnormalities
Intellectual Disability
Oculocutaneous Albinism
Genetic Services
Mucopolysaccharidoses
Inborn Errors Metabolism
Hepatolenticular Degeneration
Down Syndrome
Chromosome Aberrations
Pediatrics
Lipids

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Cite this

Arora, P., Tullu, M. S., Muranjan, M. N., Kerkar, S. P., Girisha, K. M., & Bharucha, B. A. (2003). Congenital and inherited ophthalmologic abnormalities. Indian Journal of Pediatrics, 70(7), 549-552.
Arora, Priyanka ; Tullu, Milind S. ; Muranjan, Mamta N. ; Kerkar, Sheela P. ; Girisha, K. M. ; Bharucha, Burjor A. / Congenital and inherited ophthalmologic abnormalities. In: Indian Journal of Pediatrics. 2003 ; Vol. 70, No. 7. pp. 549-552.
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abstract = "Objective: To identify genetic disorders associated with ophthalmologic abnormalities; type and frequency of various ophthalmologic abnormalities associated with selected genetic and inherited disorders; and devise a suitable classification for ophthalmologic abnormalities. Methods: Pediatric cases referred with mental retardation, congenital malformations and suspected genetic and metabolic disorders were enrolled prospectively. Relevant clinical details (including an ophthalmologic examination) and investigations were recorded. Result: Of the 1308 patients enrolled, 679 (51.9{\%}) had ophthalmologic abnormalities. 458 cases (67.45{\%}) out of these 679 had mental retardation and 20 (2.94{\%}) had neuroregression. Environmental (12.22{\%}) and chromosomal anomalies (10.9{\%}) were the largest etiological groups. Down syndrome was the commonest of the chromosomal anomalies and mongoloid slant and epicanthic folds were its commonest ophthalmologic features. Mucopolysaccharidoses (21.4{\%}), Wilson disease (19.64{\%}), oculocutaneous albinism (16.07{\%}) and lipid storage disorders (14.29{\%}) were the most common inborn errors of metabolism associated with ophthalmologic abnormalities. Of the 39 cases with Mendelian inheritance of disorders, autosomal dominant disorders (56.41{\%}) were the commonest associated with ocular abnormalities. A simple anatomical classification has been devised for various ophthalmologic abnormalities encountered (wherein, positional and adnexal abnormalities were the commonest). Conclusion: Up to 50{\%} of cases referred to the genetic services have ophthalmologic abnormalities. Conditions including chromosomal abnormalities, metabolic disorders, Mendelian syndromes and environmental factors are associated with ocular abnormalities. Anatomically, positional and adnexal abnormalities are the commonest.",
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Arora, P, Tullu, MS, Muranjan, MN, Kerkar, SP, Girisha, KM & Bharucha, BA 2003, 'Congenital and inherited ophthalmologic abnormalities', Indian Journal of Pediatrics, vol. 70, no. 7, pp. 549-552.

Congenital and inherited ophthalmologic abnormalities. / Arora, Priyanka; Tullu, Milind S.; Muranjan, Mamta N.; Kerkar, Sheela P.; Girisha, K. M.; Bharucha, Burjor A.

In: Indian Journal of Pediatrics, Vol. 70, No. 7, 01.07.2003, p. 549-552.

Research output: Contribution to journalArticle

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T1 - Congenital and inherited ophthalmologic abnormalities

AU - Arora, Priyanka

AU - Tullu, Milind S.

AU - Muranjan, Mamta N.

AU - Kerkar, Sheela P.

AU - Girisha, K. M.

AU - Bharucha, Burjor A.

PY - 2003/7/1

Y1 - 2003/7/1

N2 - Objective: To identify genetic disorders associated with ophthalmologic abnormalities; type and frequency of various ophthalmologic abnormalities associated with selected genetic and inherited disorders; and devise a suitable classification for ophthalmologic abnormalities. Methods: Pediatric cases referred with mental retardation, congenital malformations and suspected genetic and metabolic disorders were enrolled prospectively. Relevant clinical details (including an ophthalmologic examination) and investigations were recorded. Result: Of the 1308 patients enrolled, 679 (51.9%) had ophthalmologic abnormalities. 458 cases (67.45%) out of these 679 had mental retardation and 20 (2.94%) had neuroregression. Environmental (12.22%) and chromosomal anomalies (10.9%) were the largest etiological groups. Down syndrome was the commonest of the chromosomal anomalies and mongoloid slant and epicanthic folds were its commonest ophthalmologic features. Mucopolysaccharidoses (21.4%), Wilson disease (19.64%), oculocutaneous albinism (16.07%) and lipid storage disorders (14.29%) were the most common inborn errors of metabolism associated with ophthalmologic abnormalities. Of the 39 cases with Mendelian inheritance of disorders, autosomal dominant disorders (56.41%) were the commonest associated with ocular abnormalities. A simple anatomical classification has been devised for various ophthalmologic abnormalities encountered (wherein, positional and adnexal abnormalities were the commonest). Conclusion: Up to 50% of cases referred to the genetic services have ophthalmologic abnormalities. Conditions including chromosomal abnormalities, metabolic disorders, Mendelian syndromes and environmental factors are associated with ocular abnormalities. Anatomically, positional and adnexal abnormalities are the commonest.

AB - Objective: To identify genetic disorders associated with ophthalmologic abnormalities; type and frequency of various ophthalmologic abnormalities associated with selected genetic and inherited disorders; and devise a suitable classification for ophthalmologic abnormalities. Methods: Pediatric cases referred with mental retardation, congenital malformations and suspected genetic and metabolic disorders were enrolled prospectively. Relevant clinical details (including an ophthalmologic examination) and investigations were recorded. Result: Of the 1308 patients enrolled, 679 (51.9%) had ophthalmologic abnormalities. 458 cases (67.45%) out of these 679 had mental retardation and 20 (2.94%) had neuroregression. Environmental (12.22%) and chromosomal anomalies (10.9%) were the largest etiological groups. Down syndrome was the commonest of the chromosomal anomalies and mongoloid slant and epicanthic folds were its commonest ophthalmologic features. Mucopolysaccharidoses (21.4%), Wilson disease (19.64%), oculocutaneous albinism (16.07%) and lipid storage disorders (14.29%) were the most common inborn errors of metabolism associated with ophthalmologic abnormalities. Of the 39 cases with Mendelian inheritance of disorders, autosomal dominant disorders (56.41%) were the commonest associated with ocular abnormalities. A simple anatomical classification has been devised for various ophthalmologic abnormalities encountered (wherein, positional and adnexal abnormalities were the commonest). Conclusion: Up to 50% of cases referred to the genetic services have ophthalmologic abnormalities. Conditions including chromosomal abnormalities, metabolic disorders, Mendelian syndromes and environmental factors are associated with ocular abnormalities. Anatomically, positional and adnexal abnormalities are the commonest.

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M3 - Article

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Arora P, Tullu MS, Muranjan MN, Kerkar SP, Girisha KM, Bharucha BA. Congenital and inherited ophthalmologic abnormalities. Indian Journal of Pediatrics. 2003 Jul 1;70(7):549-552.