ArticleSaudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society
Ophthalmic manifestations and management of Traboulsi syndrome in three children of a Saudi family.
Article in Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Traboulsi syndrome is a rare genetic disorder characterized by dysmorphic facial features and ectopia lentis with high myopia. This condition is often associated with anterior segment abnormalities and spontaneous filtering blebs. Here, we present three children (siblings and one cousin) of one Saudi family with clinical features and genetic profiles consistent with this syndrome. Homozygous variant c.2062C>T, p.(Arg688*) gene were identified. Features such as anterior segment abnormalities and spontaneous filtering blebs were not present. One child was operated on in both eyes for lens subluxation by lens aspiration, anterior vitrectomy, and scleral-fixated intraocular lens implantation. Four months after surgery, uncorrected visual acuity was 20/20 in the right eye and 20/22.5 in the left eye. There was no spontaneous filtration bleb before or following surgery.
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