Spherophakia: A Rare Condition Affecting Pediatric Eyes

  • Sagnik Sen
  • Chirakshi Dhull
  • Sudarshan Kumar Khokhar


Spherophakia (SP) is a rare disabling developmental disease, which commonly is seen in both eyes associated with high lenticular myopia along with a risk of chronic glaucoma development and often patients present with a systemic syndromic manifestation. Prevalence of spherophakia is unclear because of the rare occurrence of the disease. SP can be seen as an isolated condition or may be familial. Familial cases have been reported in lineage studies and consanguinity has been found to be a characteristic finding in all these reports. Systemic associations have been found with homocysteinemia, Weill–Marchesani syndrome, Marfan’s syndrome, Alport’s syndrome, hyperlysinemia, congenital rubella syndrome, megalocornea-spherophakia-secondary glaucoma, arrhythmogenic right ventricular dysplasia type 1, spinocerebellar ataxia, etc. Spherophakia has been seen to commonly occur in patients of Weill–Marchesani syndrome (WMS) and the prevalence of WMS has been estimated at 1:100,000. Data from India has shown that 1.2% of children presenting with lens abnormalities have spherophakia.


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Copyright information

© Springer Nature Singapore Pte Ltd. 2019

Authors and Affiliations

  • Sagnik Sen
    • 1
    • 2
  • Chirakshi Dhull
    • 1
  • Sudarshan Kumar Khokhar
    • 1
  1. 1.Dr. Rajendra Prasad Centre for Ophthalmic SciencesAll India Institute of Medical SciencesNew DelhiIndia
  2. 2.Aravind Eye HospitalMaduraiIndia

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