{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,4,6]],"date-time":"2022-04-06T00:56:59Z","timestamp":1649206619808},"reference-count":44,"publisher":"Jaypee Brothers Medical Publishing","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n<jats:sec>\n<jats:title>Purpose<\/jats:title>\n<jats:p>To report the clinical features of five siblings, four of them with positive diagnostic of keratoconus in different degrees of severity as well as their parents findings.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Materials and methods<\/jats:title>\n<jats:p>Seven elements of the same family, five young siblings (2 males, 3 females), and their parents were screened for potential keratoconic signs. Topographic data from 60 normal eyes are also reported for comparison purposes. Complete ophthalmologic examination including biomicroscopic, topographic and refractive examination. Main outcome measures included biomicroscopic findings, refractive error and visual acuity, simulated keratometry, corneal eccentricity, indices of asymmetry and regularity.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Results<\/jats:title>\n<jats:p>The more advanced case was present in the left eye of a male member, needing a rigid gas permeable lens to correct irregular astigmatism. Another brother also presented bilateral mild to moderate keratoconus with no apparent vision complaints. The third case diagnosed was one sister with history of monthly disposable soft toric lens to compensate a presumed initially regular astigmatism two years before. The remaining two cases being the older sister and one of the younger sisters presented the less noticeable signs, with confirmation of the pathology only in one of them and warranting a close follow- up of both due to the asymmetric corneal topography between both eyes as well as between the flatter superior and steeper inferior corneal areas.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Conclusion<\/jats:title>\n<jats:p>This is the first reported case series involving diagnosis of keratoconus or atypical corneal topographies in several young siblings and their parents. Further evaluation of this and other cases with similar presentations might help to gain a deeper understanding on the potential genetic paths of keratoconus.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>How to cite this article<\/jats:title>\n<jats:p>Gonz\u00e1lez-M\u00e9ijome JM, Peixoto-de- Matos SC, Soares A, Queir\u00f3s A, D\u00edaz-Rey A, Salgado-Borges J. Topographical Irregularity and Keratoconic Findings in Five Siblings and their Parents. Int J Kerat Ect Cor Dis 2014;3(3):130-135.<\/jats:p>\n<\/jats:sec>","DOI":"10.5005\/jp-journals-10025-1093","type":"journal-article","created":{"date-parts":[[2015,5,8]],"date-time":"2015-05-08T05:43:49Z","timestamp":1431063829000},"page":"130-135","source":"Crossref","is-referenced-by-count":0,"title":["Topographical Irregularity and Keratoconic Findings in Five Siblings and their Parents"],"prefix":"10.5005","volume":"3","author":[{"given":"Jose M","family":"Gonz\u00e1lez-M\u00e9ijome","sequence":"first","affiliation":[]},{"given":"Antonio","family":"Queiros","sequence":"additional","affiliation":[]},{"given":"Alberto","family":"Diaz-Rey","sequence":"additional","affiliation":[]},{"given":"Jos\u00e9","family":"Salgado-Borges","sequence":"additional","affiliation":[]},{"given":"Sofia C","family":"Peixoto-de-Matos","sequence":"additional","affiliation":[]},{"given":"Anabela","family":"Soares","sequence":"additional","affiliation":[]}],"member":"2914","published-online":{"date-parts":[[2014]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/j.clae.2010.04.006","volume":"33:","author":"Romero-Jimenez M, Santodomingo-Rubido J, Wolffsohn JS.","year":"2010","journal-title":"Cont Lens Anterior Eye"},{"key":"ref=2","doi-asserted-by":"crossref","unstructured":"Romero-Jimenez M, Santodomingo-Rubido J, Wolffsohn JS. Keratoconus: a review. Cont Lens Anterior Eye 2010;33: 157-166.","DOI":"10.1016\/j.clae.2010.04.006"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1097\/00003226-199603000-00006","volume":"15:","author":"Zadnik K, Barr JT, Gordon MO, Edrington TB.","year":"1996","journal-title":"Cornea"},{"key":"ref=4","doi-asserted-by":"crossref","unstructured":"Zadnik K, Barr JT, Gordon MO, Edrington TB. Biomicroscopic signsanddiseaseseverityinkeratoconus. Collaborative Longitudinal Evaluation of Keratoconus (CLEK) Study Group. Cornea 1996;15:139-146.","DOI":"10.1097\/00003226-199603000-00006"},{"key":"ref5","first-page":"282","volume":"15:","author":"Mannis MJ, Zadnik K.","year":"1989","journal-title":"CLAO J"},{"key":"ref=6","unstructured":"Mannis MJ, Zadnik K. Contact lens fitting in keratoconus. CLAO J 1989;15:282-289."},{"key":"ref7","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1016\/S0896-1549(03)00057-9","volume":"16:","author":"Lembach R.","year":"2003","journal-title":"Ophthalmol Clin North Am"},{"key":"ref=8","doi-asserted-by":"crossref","unstructured":"Lembach R. Use of contact lenses for management of keratoconus. Ophthalmol Clin North Am 2003;16:383-394.","DOI":"10.1016\/S0896-1549(03)00057-9"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1097\/00006324-200208000-00011","volume":"79:","author":"Betts AM, Mitchell GL, Zadnik K.","year":"2002","journal-title":"Optom Vis Sci"},{"key":"ref=10","doi-asserted-by":"crossref","unstructured":"Betts AM, Mitchell GL, Zadnik K. Visual performance and comfort with the Rose K lens for keratoconus. Optom Vis Sci 2002;79:493-501.","DOI":"10.1097\/00006324-200208000-00011"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1097\/00006324-199910000-00020","volume":"76:","author":"Edrington TB, Szczotka LB, Barr JT, et al.","year":"1999","journal-title":"Optom Vis Sci"},{"key":"ref=12","doi-asserted-by":"crossref","unstructured":"Edrington TB, Szczotka LB, Barr JT, et al. Rigid contact lens fitting relationships in keratoconus. Collaborative Longi-tudinal Evaluation of Keratoconus (CLEK) Study Group. Optom Vis Sci 1999;76:692-699.","DOI":"10.1097\/00006324-199910000-00020"},{"key":"ref13","first-page":"56","volume":"2:","author":"Gonz\u00e1lez-M\u00e9ijome JM, Peixoto-de-Matos SC, Queiros A, et al.","year":"2013","journal-title":"Int J Kerat Ect Cor Dis"},{"key":"ref=14","doi-asserted-by":"crossref","unstructured":"Gonz\u00e1lez-M\u00e9ijome JM, Peixoto-de-Matos SC, Queiros A, et al. Quality of vision with spectacles, special silicone hydrogel and gas permeable contact lenses in keratoconic patients. Int J Kerat Ect Cor Dis 2013;2:56-59.","DOI":"10.5005\/jp-journals-10025-1051"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1097\/01.ico.0000178276.90892.ac","volume":"25:","author":"Lopez-Alemany A, Gonzalez-Meijome JM, Almeida JB, et al.","year":"2006","journal-title":"Cornea"},{"key":"ref=16","doi-asserted-by":"crossref","unstructured":"Lopez-Alemany A, Gonzalez-Meijome JM, Almeida JB, et al. Oxygen transmissibility of piggyback systems with conventional soft and silicone hydrogel contact lenses. 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Invest Ophthalmol Vis Sci 1998;39:2537-2546."},{"key":"ref21","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1046\/j.1442-9071.2001.d01-16.x","volume":"29:","author":"Edwards M, McGhee CN, Dean S.","year":"2001","journal-title":"Clin Experiment Ophthalmol"},{"key":"ref=22","doi-asserted-by":"crossref","unstructured":"Edwards M, McGhee CN, Dean S. The genetics of kerato-conus. Clin Experiment Ophthalmol 2001;29:345-351.","DOI":"10.1046\/j.1442-9071.2001.d01-16.x"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1007\/s00439-008-0555-z","volume":"124:","author":"Burdon KP, Coster DJ, Charlesworth JC, et al.","year":"2008","journal-title":"Hum Genet"},{"key":"ref=24","doi-asserted-by":"crossref","unstructured":"Burdon KP, Coster DJ, Charlesworth JC, et al. Apparent auto- somal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci. Hum Genet 2008;124:379-386.","DOI":"10.1007\/s00439-008-0555-z"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"1531","DOI":"10.1167\/iovs.08-2173","volume":"50:","author":"Gajecka M, Radhakrishna U, Winters D, et al.","year":"2009","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref=26","doi-asserted-by":"crossref","unstructured":"Gajecka M, Radhakrishna U, Winters D, et al. Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32. Invest Ophthalmol Vis Sci 2009;50:1531-1539.","DOI":"10.1167\/iovs.08-2173"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"3345","DOI":"10.1167\/iovs.05-1500","volume":"47:","author":"Udar N, Atilano SR, Brown DJ, et al.","year":"2006","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref=28","doi-asserted-by":"crossref","unstructured":"Udar N, Atilano SR, Brown DJ, et al. SOD1: a candidate gene for keratoconus. Invest Ophthalmol Vis Sci 2006;47:3345-3351.","DOI":"10.1167\/iovs.05-1500"},{"key":"ref29","first-page":"3160","volume":"43:","author":"Tyynismaa H, Sistonen P, Tuupanen S, et al.","year":"2002","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref=30","unstructured":"Tyynismaa H, Sistonen P, Tuupanen S, et al. A locus for auto- somal dominant keratoconus: linkage to 16q22.3-q23.1 in Finnish families. Invest Ophthalmol Vis Sci 2002;43:3160-3164."},{"key":"ref31","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1016\/j.ophtha.2003.12.024","volume":"111:","author":"Levy D, Hutchings H, Rouland JF, et al.","year":"2004","journal-title":"Ophthalmology"},{"key":"ref=32","doi-asserted-by":"crossref","unstructured":"Levy D, Hutchings H, Rouland JF, et al. Videokeratographic anomalies in familial keratoconus. Ophthalmology 2004; 111:867-874.","DOI":"10.1016\/j.ophtha.2003.12.024"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"794","DOI":"10.1097\/01.ico.0000226359.26678.d1","volume":"25:","author":"McMahon TT, Szczotka-Flynn L, Barr JT, et al.","year":"2006","journal-title":"Cornea"},{"key":"ref=34","doi-asserted-by":"crossref","unstructured":"McMahon TT, Szczotka-Flynn L, Barr JT, et al. A New Method for Grading the Severity of Keratoconus: The Keratoconus Severity Score (KSS). Cornea 2006;25:794-800.","DOI":"10.1097\/01.ico.0000226359.26678.d1"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1097\/00003226-200303000-00008","volume":"22:","author":"Owens H, Gamble G.","year":"2003","journal-title":"Cornea"},{"key":"ref=36","doi-asserted-by":"crossref","unstructured":"Owens H, Gamble G. A profile of keratoconus in New Zealand. Cornea 2003;22:122-125.","DOI":"10.1097\/00003226-200303000-00008"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"1108","DOI":"10.1136\/bjo.2007.130294","volume":"92:","author":"Szczotka-Flynn L, Slaughter M, McMahon T, et al.","year":"2008","journal-title":"Br J Ophthalmol"},{"key":"ref=38","doi-asserted-by":"crossref","unstructured":"Szczotka-Flynn L, Slaughter M, McMahon T, et al. Disease severity and family history in keratoconus. Br J Ophthalmol 2008;92:1108-1111.","DOI":"10.1136\/bjo.2007.130294"},{"key":"ref39","doi-asserted-by":"crossref","first-page":"874","DOI":"10.1097\/ICO.0b013e31816f5edc","volume":"27:","author":"Karimian F, Aramesh S, Rabei HM, et al.","year":"2008","journal-title":"Cornea"},{"key":"ref=40","doi-asserted-by":"crossref","unstructured":"Karimian F, Aramesh S, Rabei HM, et al. Topographic evaluation of relatives of patients with keratoconus. Cornea 2008;27:874-878.","DOI":"10.1097\/ICO.0b013e31816f5edc"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1016\/S0896-1549(03)00099-3","volume":"16:","author":"Rabinowitz YS.","year":"2003","journal-title":"Ophthalmol Clin North Am"},{"key":"ref=42","doi-asserted-by":"crossref","unstructured":"Rabinowitz YS. The genetics of keratoconus. Ophthalmol Clin North Am 2003;16:607-620.","DOI":"10.1016\/S0896-1549(03)00099-3"},{"key":"ref43","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1167\/iovs.05-0381","volume":"47:","author":"Davis LJ, Schechtman KB, Wilson BS, et al.","year":"2006","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref=44","doi-asserted-by":"crossref","unstructured":"Davis LJ, Schechtman KB, Wilson BS, et al. Longitudinal changes in visual acuity in keratoconus. 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