{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,12]],"date-time":"2025-09-12T18:21:23Z","timestamp":1757701283811},"reference-count":10,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2013,7]]},"abstract":"<jats:sec>\n            <jats:title>Purpose:<\/jats:title>\n            <jats:p>To report circumscribed outer foveolar defects in a 40-year-old man with a history of spinocerebellar ataxia type 7.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods:<\/jats:title>\n            <jats:p>A 40-year-old man with genetically confirmed spinocerebellar ataxia type 7 presented with progressive vision loss and decreased color perception for 3 years. He underwent a full ocular examination, fundus photography, autofluorescence, spectral-domain optical coherence tomography imaging, and a full-field electroretinogram.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results:<\/jats:title>\n            <jats:p>The patient\u2019s ocular examination and fundus autofluorescence were both normal except for mild temporal pallor of both optic discs. Spectral-domain optical coherence tomographic imaging showed foveal thinning with an outer foveolar defect because of focal loss of photoreceptors, disruption of the inner segment\u2013outer segment junction but preservation of the external limiting membrane, and thinning of the outer plexiform layer in both eyes. Electroretinography showed severely reduced cone function with mildly reduced rod function.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion:<\/jats:title>\n            <jats:p>Spinocerebellar ataxia type 7 should be included in the differential diagnosis for \u201couter retinal holes\u201d or \u201cfoveal cavitation,\u201d which also includes solar retinopathy, juxtafoveal telangiectasia, Welder maculopathy, tamoxifen retinopathy, Stargardt disease, amyl nitrate abuse, and cone or cone\u2013rod degeneration syndromes.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1097\/icb.0b013e31828ef084","type":"journal-article","created":{"date-parts":[[2013,3,29]],"date-time":"2013-03-29T12:25:15Z","timestamp":1364559915000},"page":"294-296","update-policy":"http:\/\/dx.doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":5,"title":["CIRCUMSCRIBED OUTER FOVEOLAR DEFECTS IN SPINOCEREBELLAR ATAXIA TYPE 7"],"prefix":"10.1097","volume":"7","author":[{"given":"William M.","family":"Watkins","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Scott D.","family":"Schoenberger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick","family":"Lavin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anita","family":"Agarwal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","reference":[{"key":"R1-29-20240721","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1016\/j.ajo.2011.02.012","article-title":"High-resolution optical coherence tomography findings in solar maculopathy and the differential diagnosis of outer retinal holes.","volume":"152","author":"Comander","year":"2011","journal-title":"Am J Ophthalmol"},{"key":"R2-29-20240721","doi-asserted-by":"crossref","first-page":"1411","DOI":"10.1097\/IAE.0b013e318236e4ea","article-title":". Foveal cavitation as an optical coherence tomography finding in central cone dysfunction.","volume":"32","author":"Leng","year":"2012","journal-title":"Retina"},{"key":"R3-29-20240721","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1097\/WNO.0b013e3181b2828e","article-title":". Ophthalmic features of spinocerebellar ataxia type 7.","volume":"29","author":"Manrique","year":"2009","journal-title":"J Neuroophthalmol"},{"key":"R4-29-20240721","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1007\/s10038-005-0233-0","article-title":". Post-zygotic de novo trinucleotide repeat expansion at spinocerebellar ataxia type 7 locus: evidence from an Indian family.","volume":"50","author":"Mittal","year":"2005","journal-title":"J Hum Genet"},{"key":"R5-29-20240721","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1097\/WNO.0b013e3181b1b3f8","article-title":". Neuro-ophthalmologic features of spinocerebellar ataxia type 7.","volume":"29","author":"Miller","year":"2009","journal-title":"J Neuroophthalmol"},{"key":"R6-29-20240721","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1136\/bjo.2009.162586","article-title":"High-definition spectral domain optical coherence tomography in the evaluation of ataxia with visual impairment.","volume":"95","author":"Kumar","year":"2011","journal-title":"Br J Ophthalmol"},{"key":"R7-29-20240721","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1016\/j.ajo.2004.10.055","article-title":"Anatomical and functional characteristics in atrophic maculopathy associated with spinocerebellar ataxia type 7.","volume":"139","author":"Ahn","year":"2005","journal-title":"Am J Ophthalmol"},{"key":"R8-29-20240721","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1006\/exer.2002.1169","article-title":". Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype.","volume":"74","author":"Aleman","year":"2002","journal-title":"Exp Eye Res"},{"key":"R9-29-20240721","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1016\/j.ajo.2009.03.001","article-title":"Peripapillary retinal nerve fiber layer thinning in patients with autosomal recessive cone-rod dystrophy.","volume":"148","author":"Pasadhika","year":"2009","journal-title":"Am J Ophthalmol"},{"key":"R10-29-20240721","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00401-012-1000-x","article-title":". Brain pathology of spinocerebellar ataxias.","volume":"124","author":"Seidel","year":"2012","journal-title":"Acta Neuropathol"}],"container-title":["RETINAL Cases &amp; Brief Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/01271216-201300730-00029","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,21]],"date-time":"2024-07-21T08:01:42Z","timestamp":1721548902000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/01271216-201300730-00029"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,7]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2013]]}},"URL":"https:\/\/doi.org\/10.1097\/icb.0b013e31828ef084","relation":{},"ISSN":["1935-1089"],"issn-type":[{"value":"1935-1089","type":"print"}],"subject":[],"published":{"date-parts":[[2013,7]]}}}