Familial association of keratoconus and granular corneal dystrophy: The familial case series

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dc.contributor.authorÇankaya, Cem
dc.contributor.authorGündüz, Abuzer
dc.contributor.authorCumurcu, Tongabay
dc.contributor.authorDemirel, Soner
dc.contributor.authorSavacı, Saliha Serap
dc.contributor.authorÇavdar, Müfide
dc.date.accessioned2021-05-25T08:00:25Z
dc.date.available2021-05-25T08:00:25Z
dc.date.issued2019
dc.departmentİnönü Üniversitesien_US
dc.description.abstractAbstract: OBJECTIVE: The aim of the present study was to evaluate the coexistence of bilateral keratoconus and granular corneal dystrophy (GCD) in the members of a family. METHODS: A total of 22 patients were examined in four generations of the family tree in this family screening study. Visual acuity test, biomicroscopic examination, and fundus examination were performed in all patients. The diagnosis of granular dystrophy was based on biomicroscopic examination findings. Corneal topography was performed on the patients diagnosed with granular dystrophy and other family members aged >5 years with normal examination findings. Corneal photographs were obtained from all patients with granular dystrophy except one case. RESULTS: Keratoconus or subclinical keratoconus was detected in seven cases. In addition, GCD type 1 was found in six of the seven cases. All patients diagnosed with keratoconus and granular dystrophy were females. On the other hand, there was no ophthalmologic problem in the men of the family tree. Although an autosomal dominant inheritance was found, the onset of the disease only in women suggests that there may be a variant expression. CONCLUSION: The present study showed an association of GCD and keratoconus in four generations of a family. More research is required to further explain this association.en_US
dc.identifier.citationÇANKAYA C,GÜNDÜZ A,CUMURCU T,DEMİREL S,SAVACI S. S,ÇAVDAR M (2019). Familial association of keratoconus and granular corneal dystrophy: The familial case series. İstanbul Kuzey Klinikleri, 6(2), 176 - 183. Doi: 10.14744/nci.2018.08860en_US
dc.identifier.doi10.14744/nci.2018.08860en_US
dc.identifier.endpage183en_US
dc.identifier.issn2148-4902
dc.identifier.issn2536-4553
dc.identifier.issue2en_US
dc.identifier.pmid31297486en_US
dc.identifier.startpage176en_US
dc.identifier.trdizinid337814en_US
dc.identifier.urihttps://doi.org/10.14744/nci.2018.08860
dc.identifier.urihttps://hdl.handle.net/11616/33667
dc.identifier.urihttps://search.trdizin.gov.tr/yayin/detay/337814
dc.identifier.volume6en_US
dc.identifier.wosWOS:000472063600013en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isotren_US
dc.relation.ispartofİstanbul Kuzey Kliniklerien_US
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.titleFamilial association of keratoconus and granular corneal dystrophy: The familial case seriesen_US
dc.typeArticleen_US

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