Ophthalmic Genetics in India: From Tentative Beginnings in the 1980’s to Major Achievements in the Twenty-First Century

  • Govindasamy Kumaramanickavel
  • M. J. Denton
Part of the Essentials in Ophthalmology book series (ESSENTIALS)


The journey to map autosomal recessive retinitis pigmentosa (RP) genes both syndromic and non-syndromic started in mid-1990 in India. The potential of consanguineous, large sibship families was exploited with overwhelming results particularly using homozygosity mapping methodology. The project came to standstill due to limited funding and complicated logistics to work in field in India. Even though the struggle started with multiple barriers and challenges, it was one of the most successful stories that a team of ophthalmologists and vision scientists in India and New Zealand enjoyed. These sincere efforts have led today towards promising gene therapy. This is a narrative story of those yesteryears.


Autosomal recessive Consanguinity Linkage analysis Ophthalmic genetics Retinitis pigmentosa 


Conflict of Interest

None of the authors have any proprietary interests or conflicts of interest related to this submission.

Compliance with Ethical Requirements

The whole journey and scientific endeavours were in complican with the ethical requirements.


  1. 1.
    Bhattacharya SS, Wright AF, Clayton JF, Price WH, Phillips CI, CME MK, Jay M, et al. Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28. Nature. 1984;309:253–5.CrossRefGoogle Scholar
  2. 2.
    Denton MJ, Chen JD, Serravalle S, Colley P, Halliday FB, Donald J. Estimate of recombination fractions between the Xp probes, L128, OTC, CX5, 754, XJ.1, pERT-87, and C7 and the locus for retinitis Pigmentosa. Hum Genet. 1988;78:60–4.CrossRefGoogle Scholar
  3. 3.
    Wirth B, Denton MJ, Chen JD, Neugebauer M, Halliday FB, van Schooneveld M, Donald J, Bleeker-Wagemakers EM, Gal A, Pearson PL. Two different genes for X-linked retinitis pigmentosa. Genomics. 1988;2:263–6.CrossRefGoogle Scholar
  4. 4.
    Localising multiple X-chromosome linked retinitis pigmentosa loci using multilocus homogeneity tests, Ott J, Bhattacharya SS, Chen JD, et al. Proc. Natl Acad Sci USA. 1990;87:701–4.CrossRefGoogle Scholar
  5. 5.; Lewis, Wendy. 2010. Australians of the Year. Pier 9 Press. ISBN 978-1-74196-809-5.
  6. 6.
    Kumaramanickavel G, Maw M, Denton MJ, John S, Srikumari CRS, Orth U, Oehlmann R, Gal A. Missense rhodopsin mutation in a family with recessive RP. Nat Genet. 1994;8:10–1.CrossRefGoogle Scholar
  7. 7.
    Maw MA, John S, Jablonka S, Kumaramanickavel G, Oehlmann R, Denton MJ, Gal A. Oguchi disease: suggestion of linkage to markers on chromosome 2q, J Med Genetics. 1994;32:396–98; Maw, MA, Denton MJ. Oguchi disease, retinitis pigmentosa and the phototransduction pathway, In: Lavail M, Anderson RE, editors. Degenerative retinal degenerative disease: proceedings of the 7th international symposium on retinal degeneration. New York: Plenum Publishing Corporation; 1996. p. 313–8; Maw MA, Kumaramanickavel G, Kar B, John S, Bridges R, Denton M. Two Indian siblings with Oguchi disease are homozygous for an arrestin mutation encoding premature termination, Hum Mutat. 1998;Suppl 1:S317–19.Google Scholar
  8. 8.
    Maw MA, Kennedy B, Knight A, Bridges R, Roth KE, Mani EJ, Mukkadan JK, Nancarrow D, Crabb JW, Denton MJ. Mutation of the gene encoding cellular retinaldehyde binding protein in autosomal retinitis pigmentosa. Nat Genet. 1997;17:198–200.CrossRefGoogle Scholar
  9. 9.
    Gu S-m, Thompson DA, Srikumari CR, Birgit L, Kamramanickavel G, Nicoletti A, Murthy KR, Denton MJ, Gal A. Mutations in RPE65 cause autosomal recessive childhood onset severe retinal dystrophy. Nat Genet. 1997;17:194–7.CrossRefGoogle Scholar
  10. 10.
    Finckh U, Xu S, Kumaramanickavel G, Schurmann M, Mukkadan JK, Fernandez ST, John S, Weber JL, Denton MJ, Gal A. Homozygosity Mapping of autosomal recessive retinitis Pigmentosa locus (RP22) on chromosome 16p12.1–p12.3. Genomics. 1998;48(3):341–5.CrossRefGoogle Scholar
  11. 11.
    Maw M, Kar B, Biswas J, Biswas P, Nancarrow D, Bridges R, Kamaramanickavel G, Denton MJ, Badrinath SS. Linkage of Blepharophimosis syndrome in a large Indian pedigree to chromosome 7p. Am J Hum Genet. 1996;5:2049–54.Google Scholar
  12. 12.
    Meins M, Jamecke A, Marschke C, Denton MJ, Kumaramanickavel G, Pittler SJ, Gal A. Mutations in the gene encoding the α subunit of the rod photoreceptor cGMP-specific phosphodiesterase (PDEA) are rare in autosomal recessive retinitis pigmentosa. In: Lavail M, Anderson RE, editors. Degenerative retinal degenerative disease: proceedings of the 7th international symposium on retinal degeneration. Plenum Publishing Corporation; 1997. pp 237–44.Google Scholar
  13. 13.
    Maw MA, Corbeil D, Koch J, Helliwig A, Wilson-Wheeler JC, Bridges RJ, Kumaramanickavel G, John S, Nancarrow D, Roper K, Weigmann A, Huttner WB, Denton MJ. Mutation of the gene coding for prominin (mouse) like 1 in autosomal recessive retinal degeneration. Hum Mol Genet. 1999;9:27–34.CrossRefGoogle Scholar

Copyright information

© Springer Nature Singapore Pte Ltd. 2019

Authors and Affiliations

  • Govindasamy Kumaramanickavel
    • 1
  • M. J. Denton
    • 2
  1. 1.Narayana NethralayaBangaloreIndia
  2. 2.University of OtagoDunedinNew Zealand

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