Open AccessGenetic testing in four Indian families with suspected Stickler syndrome
Author(s) -
Suganya Kandeeban,
Kaustubh Kandale,
Porkodi Periyasamy,
Muna Bhende,
Pramod Bhende,
Sinnakaruppan Mathavan,
Sarangapani Sripriya
Publication year - 2022
Publication title -
indian journal of ophthalmology/indian journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 51
eISSN - 1998-3689
pISSN - 0301-4738
DOI - 10.4103/ijo.ijo_1833_21
Subject(s) - medicine , sanger sequencing , genetic testing , index case , genetics , retinal detachment , family history , genetic analysis , genetic counseling , disease , ophthalmology , dna sequencing , pathology , gene , retinal , biology
Stickler syndrome is associated with the development of rhegmatogenous retinal detachment (RRD), and often presents with ocular, auditory, skeletal, and orofacial abnormalities. Molecular analysis has proven effective in diagnosis, confirmation and classification of the disease. We aimed to describe the utility of next-generation sequencing (NGS) in genetic analysis of four Indian families with suspected Stickler syndrome.