Avtor/Urednik		Stirn-Kranjc, Branka; Brezigar, Anamarija; Peterlin, Borut
Naslov		Bilateral macular dysplasia in fragile X syndrome
Tip		članek
Vir		Optom Vis Sci
Vol. in št.		Letnik 75, št. 12
Leto izdaje		1998
Obseg		str. 856-59
Jezik		eng
Abstrakt		Purpose. Few studies have investigated the eye and vision dysfunctions of children with the frag syndrome. Case report. We report on a preschool boy with bilateral macular dysplasia and fragila X syndrome ocular features and phenotypic and genetic expressions are described. His mentally normal mother was identification an expansion mutation carrier, and his older sister has learning disabilities, astigmatic refractive error, squint, and ptosis. Intrauterine infection has been excluded. Conclusion. To our knowledge, the association of macular dysp with fragile X syndrome has not been reported. The finding of macular dysplasia might be a coincidental development disorder and not a part of the syndrome. It could be considered a condition causing visual deficit with nystagme fragile X syndrome.
Deskriptorji		ASTIGMATISM FRAGILE X SYNDROME RETINAL DYSPLASIA CHILD, PRESCHOOL OCULAR MOTILITY DISORDERS VISION DISORDERS FUNDUS OCULI ELECTRORETINOGRAPHY EVOKED POTENTIALS, VISUAL