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CASE REPORT
Year : 2022  |  Volume : 2  |  Issue : 4  |  Page : 962-964

A rare case in a child with mild trichothiodystrophy associated with ERCC2 gene


1 Department Paediatric Ophthalmology and Adult Strabismus Services, Aravind Eye Hospital, Madurai, Tamil Nadu, India
2 Department of Genetics Aravind Medical Research Foundation, Affiliation with Department of Molecular Biology, Alagappa University, Karaikudi, Tamil Nadu, India

Correspondence Address:
Dr. Rajendran Janani
Paediatric Ophthalmology and Adult Strabismus Services, Aravind Eye Hospital, Madurai, Tamil Nadu
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijo.IJO_1217_22

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A 7-year-old girl with bilateral cataracts, along with photosensitivity, was suspected to have xeroderma pigmentosum. Further dermatological examination confirmed the proband had dry skin, brittle hair, high-arched palate, and ichthyosis. The proband underwent bilateral cataract surgery. Her best corrected visual acuity (BCVA) improved to 6/9 in both eyes. Polarizing light microscopic observation of the proband eyebrow hair shaft resembled tiger tail-like stripes, which is an authentic clinical feature associated with trichothiodystrophy (TTD). Furthermore, on whole exome sequencing (WES) of the proband, mutations in the ERCC2 gene were found to be strongly associated with TTD1.


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