Case report of a PRDM5 linked brittle cornea syndrome type 2 in association with a novel SLC6A5 mutation

Case report of a PRDM5 linked brittle cornea syndrome type 2 in association with a novel SLC6A5 mutation

A 3-year-old girl presenting with blue sclera, hyperlaxity and developmental dysplasia of hip was found to have bilateral corneal thinning with astigmatism and keratoconus. By clinical exome sequencing, a frameshift mutation c.713_716 del TTTG p.(Val238Alafs*35) in PRDM5 gene causing brittle cornea...

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Bibliographic Details
Main Authors: Agnes Selina, Deepa John, Lakshmi Loganathan, Vrisha Madhuri
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2020-01-01
Series:Indian Journal of Ophthalmology
Subjects:
blue sclera
brittle cornea syndrome
hyperekplexia
keratoconus
Online Access:http://www.ijo.in/article.asp?issn=0301-4738;year=2020;volume=68;issue=11;spage=2545;epage=2547;aulast=Selina

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http://www.ijo.in/article.asp?issn=0301-4738;year=2020;volume=68;issue=11;spage=2545;epage=2547;aulast=Selina

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