Ophthalmic findings in GAPO syndrome

Simple item page
dc.contributor.authorIlker S.S.
dc.contributor.authorÖztürk F.
dc.contributor.authorKurt E.
dc.contributor.authorTemel M.
dc.contributor.authorGül D.
dc.contributor.authorSayli B.S.
dc.date.accessioned2024-07-22T08:25:54Z
dc.date.available2024-07-22T08:25:54Z
dc.date.issued1999
dc.description.abstractBackground: The main manifestations of GAPO syndrome are growth retardation (G), alopecia (A), pseudoanodontia (P), and optic atrophy (O). Cases: This syndrome has been described in 21 patients from 16 different families. Four cases are from Turkey and have been presented by Sayli and Gul. The purpose of our study is to document the cases from Turkey and discuss the ophthalmological and neuro-ophthalmolgical findings of these and other reported GAPO cases. Observations: All patients in the literature and our 4 cases have severe growth retardation with delayed bone age in infancy, characteristic facial appearance (high and bossed forehead, midface hypoplasia), alopecia or severe hypotrichosis, and pseudoanodontia. Optic atrophy was present in 1 of our cases and in 5 previous cases. Glaucoma was present in 5 cases, including 2 of ours. Buphthalmia and keratopathy secondary to glaucoma were also observed. White eyelashes, seen only in our cases, may be a sign of 'early senility.' Conclusions: Optic atrophy is not a constant finding in GAPO syndrome. Glaucoma may accompany the ocular findings. This syndrome has been attributed to either ectodermal dysplasia or the accumulation of extracellular connective tissue matrix, due to an enzyme deficiency involved in its metabolism. Current studies show that an elastin defect and secondary changes in collagen may be important in the pathogenesis of the disease.
dc.identifier.DOI-ID10.1016/S0021-5155(98)00058-6
dc.identifier.issn00215155
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/20659
dc.language.isoEnglish
dc.subjectAbnormalities, Multiple
dc.subjectAdolescent
dc.subjectAdult
dc.subjectAlopecia
dc.subjectAnodontia
dc.subjectElectroretinography
dc.subjectEye Abnormalities
dc.subjectFemale
dc.subjectFollow-Up Studies
dc.subjectGlaucoma
dc.subjectGrowth Disorders
dc.subjectHumans
dc.subjectMale
dc.subjectOptic Atrophy
dc.subjectPedigree
dc.subjectSyndrome
dc.subjectadolescent
dc.subjectadult
dc.subjectaging
dc.subjectalopecia
dc.subjectarticle
dc.subjectcase report
dc.subjectclinical feature
dc.subjectcomorbidity
dc.subjectfemale
dc.subjectglaucoma
dc.subjectgrowth retardation
dc.subjecthuman
dc.subjecthypodontia
dc.subjectkeratopathy
dc.subjectmale
dc.subjectoptic nerve atrophy
dc.subjectpedigree analysis
dc.subjectpriority journal
dc.subjectsyndrome
dc.subjectTurkey (republic)
dc.titleOphthalmic findings in GAPO syndrome
dc.typeArticle

Files

Collections

Scopus Koleksiyonu