Open AccessOcular manifestations of homocystinuria due to cystathionine beta-synthase deficiency: A rare case report with genetic analysis
Author(s) -
Damaris Magdalene,
Ronel Soibam,
Riddhi Raichura,
Saurabh Deshmukh,
Surpriya Hawaibam,
Krati Gupta
Publication year - 2020
Publication title -
tnoa journal of ophthalmic science and research
Language(s) - English
Resource type - Journals
eISSN - 2589-4536
pISSN - 2589-4528
DOI - 10.4103/tjosr.tjosr_86_20
Subject(s) - homocystinuria , cystathionine beta synthase , ectopia lentis , glaucoma , homocysteine , medicine , ophthalmology , genetics , pathology , biology , methionine , amino acid , marfan syndrome