{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T16:46:20Z","timestamp":1784133980546,"version":"3.55.0"},"reference-count":31,"publisher":"American Veterinary Medical Association (AVMA)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["javma"],"published-print":{"date-parts":[[2018,2,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n<jats:p><jats:bold>CASE DESCRIPTION<\/jats:bold> An 18-month-old spayed female domestic shorthair cat was evaluated because of conjunctivitis and skin-fold dermatitis secondary to bilateral microphthalmia, corneal dermoids, and ankyloblepharon.<\/jats:p>\n<jats:p><jats:bold>CLINICAL FINDINGS<\/jats:bold> Physical examination revealed bilateral microphthalmia, bilaterally symmetrical corneal dermoids, ankyloblepharon, superior and inferior entropion, prognathism, and facial asymmetry with deviation of the nasal septum. Computed tomography revealed malformed, thickened bony orbits with mineralization of the orbital ligament bilaterally. Moderate rightward deviation of the nasal septum and ventral nasal meatus was also evident, with no identifiable maxillary sinuses. Results of MRI of the brain were unremarkable. Abdominal ultrasonography showed an irregularly marginated left kidney and a right kidney defect suggestive of chronic renal infarction. An abnormal, well-demarcated, focally thickened region of the muscularis externa of the jejunum was also evident.<\/jats:p>\n<jats:p><jats:bold>TREATMENT AND OUTCOME<\/jats:bold> Transpalpebral enucleation was performed bilaterally. Histologic examination of ocular tissues confirmed the corneal dermoids and microphthalmia with anterior and posterior segment dysgenesis and cataracts in both eyes. Ocular discomfort resolved after postoperative recovery, and follow-up revealed that the patient's activity level and quality of life were excellent. No clinical signs of upper respiratory, urinary, or gastrointestinal tract disease were observed during the approximately 3.5-year follow-up period.<\/jats:p>\n<jats:p><jats:bold>CLINICAL RELEVANCE<\/jats:bold> The congenital abnormalities observed resembled those described for human patients with Goldenhar syndrome, and the outcome of treatment was favorable. This report may prompt clinicians to consider this diagnosis when evaluating young cats with similar clinical signs.<\/jats:p>","DOI":"10.2460\/javma.252.3.324","type":"journal-article","created":{"date-parts":[[2018,1,18]],"date-time":"2018-01-18T19:07:42Z","timestamp":1516302462000},"page":"324-329","source":"Crossref","is-referenced-by-count":6,"title":["Microphthalmia, corneal dermoids, and congenital anomalies resembling Goldenhar syndrome in a cat"],"prefix":"10.2460","volume":"252","author":[{"given":"William","family":"Berkowski","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingeborg","family":"Langohr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony","family":"Pease","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua","family":"Bartoe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1272","reference":[{"key":"ref1","series-title":"Small animal diagnostic ultrasound","author":"Nyland","year":"2002"},{"key":"ref2","series-title":"GeneReviews","article-title":"Craniofacial microsomia overview","author":"Heike","year":"2014"},{"key":"ref3","series-title":"Vet Comp Ophthalmol","first-page":"109","article-title":"Embryogenesis of congenital eye malformations","volume":"5","author":"Cook","year":"1995"},{"key":"ref4","series-title":"N Z Vet J","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1080\/00480169.1981.34792","article-title":"Microphthalmia in cats","volume":"29","author":"Dunnet","year":"1981"},{"key":"ref5","series-title":"Clin Tech Small Anim Pract","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1053\/j.ctsap.2004.12.011","article-title":"Congenital and hereditary ocular abnormalities in cats","volume":"20","author":"Glaze","year":"2005"},{"key":"ref6","series-title":"J Am Vet Med Assoc","first-page":"1504","article-title":"Congenital ocular defects in cattle, horses, cats, and dogs","volume":"160","author":"Priester","year":"1972"},{"key":"ref7","series-title":"GeneReviews","article-title":"Anophthalmia\/microphthalmia overview","author":"Bardakjian","year":"1993"},{"key":"ref8","series-title":"J Med Genet","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1136\/jmg.39.1.16","article-title":"National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology","volume":"39","author":"Morrison","year":"2002"},{"key":"ref9","series-title":"J Jersey Wildl Preserv Trust","first-page":"83","article-title":"Ocular colobomata in the snow leopard (Panthera uncia)","volume":"18","author":"Barnett","year":"1981"},{"key":"ref10","series-title":"Acta Vet Scand","doi-asserted-by":"publisher","first-page":"136","DOI":"10.1186\/BF03546571","article-title":"Coloboma of the optic nerve head in Bengal tiger kittens (Panthera tigris tigris)","volume":"26","author":"Dietz","year":"1985"},{"key":"ref11","series-title":"Hereditas","first-page":"221","article-title":"Multiple ocular coloboma (MOC) in snow leopards (Panthera uncia). 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