Unilateral posterior subcapsular cataract and lenticonus in a girl with Bloom's syndrome - report of a rare case.

Abstract

Background: Bloom's syndrome (BS) a rare, autosomal recessive disorder is a genodermatosis characterized by prenatal and postnatal growth deficiency, photosensitive skin changes, immune deficiency, insulin resistance, and a greatly increased risk of early cancer. Loss-of-function mutations of BLM gene, which codes for a RecQ helicase, cause Bloom's syndrome. The absence of a functional BLM protein causes chromosome 10 instability, excessive homologous recombination, and a greatly increased number of sister chromatid exchanges that are pathognomonic for the syndrome.

Methods: A 9-year-old girl previously diagnosed with Bloom's Syndrome, presented to us with defective vision and inward deviation of her right eye. In addition to dysmorphism associated with Bloom's syndrome on general examination, Ophthalmic examination revealed posterior subcapsular cataract and posterior lenticonus.

Conclusion: This report thus has filled in a new and previously unreported clinical manifestation of Blooms' Syndrome, though it could be a chance association.