Keratoglobus with ARCL1B (EFEMP2 gene) cutis laxa
PURPOSETo report a case of keratoglobus in a patient with autosomal recessive (AR) cutis laxa. OBSERVATIONSA 38 year old male presented with decreased vision in both eyes uncorrectable with spectacles and a history of corneal rupture in the left eye from incidental trauma a decade prior. His ocular...
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| Veröffentlicht in: | American journal of ophthalmology case reports 2019, Vol.15, p.100477-100477 |
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| container_title | American journal of ophthalmology case reports |
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| creator | Mauger, Thomas F Mundy, Chantelle L Oostra, Tyler D Patel, Pratik J |
| description | PURPOSETo report a case of keratoglobus in a patient with autosomal recessive (AR) cutis laxa. OBSERVATIONSA 38 year old male presented with decreased vision in both eyes uncorrectable with spectacles and a history of corneal rupture in the left eye from incidental trauma a decade prior. His ocular exam was consistent with keratoglobus. His medical and family history indicated AR cutis laxa. CONCLUSIONS AND IMPORTANCEWe believe that this is the first reported case of keratoglobus associated with cutis laxa. |
| doi_str_mv | 10.1016/j.ajoc.2019.100477 |
| format | Report |
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OBSERVATIONSA 38 year old male presented with decreased vision in both eyes uncorrectable with spectacles and a history of corneal rupture in the left eye from incidental trauma a decade prior. His ocular exam was consistent with keratoglobus. His medical and family history indicated AR cutis laxa. 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| fulltext | fulltext |
| identifier | EISSN: 2451-9936 |
| ispartof | American journal of ophthalmology case reports, 2019, Vol.15, p.100477-100477 |
| issn | 2451-9936 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_2280570772 |
| source | PubMed Central Free; DOAJ Directory of Open Access Journals; Alma/SFX Local Collection; EZB Electronic Journals Library |
| title | Keratoglobus with ARCL1B (EFEMP2 gene) cutis laxa |
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