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Purpose: To determine the usefulness of genetic analysis for confirming the diagnosis of X-linked familial exudative vitreoretinopathy (FEVR) and verifying the mode of inheritance. Methods: Twenty-seven consecutive patients diagnosed with FEVR were enrolled for genetic analysis. All patients...
Purpose: To investigate the cause of vision loss in patients with ganglioside GM3 synthase deficiency, a newly described rare autosomal recessive infantile-onset symptomatic epilepsy syndrome associated with developmental stagnation and blindness. Methods: We examined four children from two...
Purpose: To report the development of corneal ectasia and hydrops in a patient with autosomal recessive cornea plana. Methods: Retrospective observational case report. Results: A 16-year-old male with a prior diagnosis of autosomal recessive cornea plana who complained of unilateral visual loss...
Background: Interstitial deletion of Hsa 3q involves FOXL2 , the gene responsible for blepharophimosis-ptosis-telecanthus-epicanthus inversus (BPES). Thought to be due to a contiguous gene syndrome, the recognizable phenotype of 3q interstitial deletion includes BPES facies and has not been...
Constitutional partial trisomy 8 mosaicism is a rare chromosomal multisystem disorder with systemic and ophthalmologic manifestations. We report the case of a 15-year-old female mosaic for trisomy 8 who has unilateral colobomatous microphthalmia and multiple chorioretinal defects. These...
Background: Sanjad-Sakati syndrome (SSS) is a rare disorder characterized by hypoparathyroidism, growth and developmental delay, and dysmorphism. The purpose of this report is to describe the ophthalmic manifestations of Sanjad-Sakati syndrome (SSS; hypoparathyroidism-mental...
Purpose: Primary infantile glaucoma (PIG) is predominantly inherited as a recessive disease, whereas anterior segment dysgenesis (ASD) is usually dominantly inherited. The purpose of this study was to determine the likelihood of a person who has infantile glaucoma to produce a child who also...
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