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CASE REPORT
Year : 2019  |  Volume : 11  |  Issue : 2  |  Page : 65-67

Rhizomelia: A rare cause of congenital cataract


1 Department of Ophthalmology, IGMC, Shimla, Himachal Pradesh, India
2 Department of Pediatrics, IGMC, Shimla, Himachal Pradesh, India

Correspondence Address:
Dr. Praveen Kumar Panwar
Department of Ophthalmology, IGMC, Shimla, Himachal Pradesh
India
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DOI: 10.4103/sjopthal.sjopthal_27_19

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Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive disorder of peroxisomal metabolism characterized by skeletal deformities, cataract, growth retardation, and psychomotor retardation. We report a case of a 4½-year-old female child with complaints of limping and whitish discoloration of the right eye. On the basis of her clinical examination and radiological investigation, she was diagnosed with RCDP. We operated the child for congenital cataract, and posterior chamber intraocular lens (PCOL) was implanted. The rarity of this disorder has prompted us to report this case. Although there is no cure for this disorder, symptomatic and supportive treatment can improve the quality of life in these patients.


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