{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T11:54:56Z","timestamp":1753876496802,"version":"3.41.2"},"reference-count":22,"publisher":"Oxford University Press (OUP)","issue":"9","funder":[{"name":"Intramural Research Programs of the National Institute of Diabetes and Digestive and Kidney Diseases","award":["ZIA DK043006-46"],"award-info":[{"award-number":["ZIA DK043006-46"]}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,8,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Jansen metaphyseal chondrodysplasia (JMC) is an ultra-rare disorder caused by germline heterozygous PTHR1 variants resulting in constitutive activation of parathyroid hormone type 1 receptor. A description of ocular manifestations of the disease is lacking. Six patients with JMC underwent a detailed ophthalmic evaluation, spectral-domain optical coherence tomography (OCT), visual field testing, and craniofacial CT scans. Five of 6 patients had good visual acuity. All patients had widely spaced eyes; 5\/6 had downslanted palpebral fissures. One patient had proptosis, and another had bilateral ptosis. Two patients had incomplete closure of the eyelids (lagophthalmos), one had a history of progressive right facial nerve palsy with profuse epiphora, while the second had advanced optic nerve atrophy with corresponding retinal nerve fiber layer (RNFL) thinning on OCT and significant bilateral optic canal narrowing on CT scan. Additionally, this patient also had central visual field defects and abnormal color vision. A third patient had normal visual acuity, subtle temporal pallor of the optic nerve head, normal average RNFL, but decreased temporal RNFL and retinal ganglion cell layer analysis (GCA) on OCT. GCA was decreased in 4\/6 patients indicating a subclinical optic nerve atrophic process. None of the patients had glaucoma or high myopia. These data represent the first comprehensive report of ophthalmic findings in JMC. Patients with JMC have significant eye findings associated with optic canal narrowing due to extensive skull base dysplastic bone overgrowth that appear to be more prevalent and pronounced with age. Progressive optic neuropathy from optic canal narrowing may be a feature of JMC, and OCT GCA can serve as a useful biomarker for progression in the setting of optic canal narrowing. We suggest that patients with JMC should undergo regular ophthalmic examination including color vision, OCT, visual field testing, orbital, and craniofacial imaging.<\/jats:p>","DOI":"10.1093\/jbmrpl\/ziae089","type":"journal-article","created":{"date-parts":[[2024,7,12]],"date-time":"2024-07-12T07:08:38Z","timestamp":1720768118000},"source":"Crossref","is-referenced-by-count":2,"title":["Ocular findings in Jansen metaphyseal chondrodysplasia"],"prefix":"10.1093","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-2652-9965","authenticated-orcid":false,"given":"Fiona","family":"Obiezu","sequence":"first","affiliation":[{"name":"National Institute of Dental and Craniofacial Research, National Institutes of Health Skeletal Disorders & Mineral Homeostasis Section, , Bethesda, MD 20892 , United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M Teresa","family":"Magone De Quadros Costa","sequence":"additional","affiliation":[{"name":"National Eye Institute, National Institutes of Health , Bethesda, MD 20892 , United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laryssa A","family":"Huryn","sequence":"additional","affiliation":[{"name":"National Eye Institute, National Institutes of Health , Bethesda, MD 20892 , United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristen","family":"Pan","sequence":"additional","affiliation":[{"name":"National Institute of Dental and Craniofacial Research, National Institutes of Health Skeletal Disorders & Mineral Homeostasis Section, , Bethesda, MD 20892 , United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Konstantinia","family":"Almpani","sequence":"additional","affiliation":[{"name":"National Institute of Dental and Craniofacial Research, National Institutes of Health Craniofacial Anomalies and Bone Regeneration Section, , Bethesda, MD 20892 , United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anisha","family":"Ninan","sequence":"additional","affiliation":[{"name":"National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health Metabolic Diseases Branch, , Bethesda, MD 20892 , United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0284-5299","authenticated-orcid":false,"given":"Kelly L","family":"Roszko","sequence":"additional","affiliation":[{"name":"National Institute of Dental and Craniofacial Research, National Institutes of Health Skeletal Disorders & Mineral Homeostasis Section, , Bethesda, MD 20892 , United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lee S","family":"Weinstein","sequence":"additional","affiliation":[{"name":"National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health Metabolic Diseases Branch, , Bethesda, MD 20892 , United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rachel I","family":"Gafni","sequence":"additional","affiliation":[{"name":"National Institute of Dental and Craniofacial Research, National Institutes of Health Skeletal Disorders & Mineral Homeostasis Section, , Bethesda, MD 20892 , United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos R","family":"Ferreira","sequence":"additional","affiliation":[{"name":"National Human Genome Research Institute, National Institutes of Health Skeletal Genomics Unit, , Bethesda, MD 20892 , United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janice","family":"Lee","sequence":"additional","affiliation":[{"name":"National Institute of Dental and Craniofacial Research, National Institutes of Health Craniofacial Anomalies and Bone Regeneration Section, , Bethesda, MD 20892 , United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael T","family":"Collins","sequence":"additional","affiliation":[{"name":"National Institute of Dental and Craniofacial Research, National Institutes of Health Skeletal Disorders & Mineral Homeostasis Section, , Bethesda, MD 20892 , United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9201-3340","authenticated-orcid":false,"given":"Smita","family":"Jha","sequence":"additional","affiliation":[{"name":"National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health Metabolic Diseases Branch, , Bethesda, MD 20892 , United States"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2024,7,12]]},"reference":[{"issue":"3","key":"2024080515261738300_ref1","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1101\/gad.8.3.277","article-title":"Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene","volume":"8","author":"Karaplis","year":"1994","journal-title":"Genes Dev"},{"issue":"7","key":"2024080515261738300_ref2","doi-asserted-by":"crossref","first-page":"2660","DOI":"10.1210\/jc.2018-00332","article-title":"Progression of mineral ion abnormalities in patients with Jansen metaphyseal chondrodysplasia","volume":"103","author":"Saito","year":"2018","journal-title":"J Clin Endocrinol Metab"},{"issue":"2","key":"2024080515261738300_ref3","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1210\/endrev\/bnz011","article-title":"Fibrous dysplasia\/McCune-Albright syndrome: a rare, mosaic disease of Galpha s activation","volume":"41","author":"Boyce","year":"2020","journal-title":"Endocr Rev"},{"issue":"21","key":"2024080515261738300_ref4","doi-asserted-by":"crossref","first-page":"1670","DOI":"10.1056\/NEJMoa020742","article-title":"Normal vision despite narrowing of the optic canal in fibrous dysplasia","volume":"347","author":"Lee","year":"2002","journal-title":"N Engl J Med"},{"issue":"11","key":"2024080515261738300_ref5","doi-asserted-by":"crossref","first-page":"4283","DOI":"10.1210\/jc.2016-2054","article-title":"Jansen metaphyseal chondrodysplasia due to heterozygous H223R-PTH1R mutations with or without overt hypercalcemia","volume":"101","author":"Nampoothiri","year":"2016","journal-title":"J Clin Endocrinol Metab"},{"issue":"14","key":"2024080515261738300_ref6","doi-asserted-by":"crossref","DOI":"10.3390\/diagnostics13142444","article-title":"Early optical coherence tomography biomarkers for selected retinal diseases-a review","volume":"13","author":"Gozdziewska","year":"2023","journal-title":"Diagnostics"},{"issue":"1","key":"2024080515261738300_ref7","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1227\/neu.0000000000002186","article-title":"Ocular optical coherence tomography in the evaluation of sellar and parasellar masses: a review","volume":"92","author":"Banc","year":"2023","journal-title":"Neurosurgery"},{"issue":"3","key":"2024080515261738300_ref8","doi-asserted-by":"crossref","first-page":"364","DOI":"10.4103\/tjo.tjo_27_22","article-title":"Fibrous dysplasia: a rare cause of optic neuropathy","volume":"12","author":"Sadigh","year":"2022","journal-title":"Taiwan J Ophthalmol"},{"issue":"2","key":"2024080515261738300_ref9","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1007\/s11914-023-00779-6","article-title":"Craniofacial fibrous dysplasia: clinical and therapeutic implications","volume":"21","author":"Szymczuk","year":"2023","journal-title":"Curr Osteoporos Rep"},{"issue":"1","key":"2024080515261738300_ref10","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1111\/j.1444-0938.2000.tb05069.x","article-title":"The effect of myelination on perimetry and retinal nerve fibre analysis","volume":"83","author":"Lam","year":"2000","journal-title":"Clin Exp Optom"},{"issue":"4","key":"2024080515261738300_ref11","first-page":"e14552","article-title":"Ocular findings associated with myelinated retinal nerve Fibers","volume":"13","author":"Kera","year":"2021","journal-title":"Cureus"},{"issue":"10","key":"2024080515261738300_ref12","doi-asserted-by":"crossref","first-page":"1465","DOI":"10.1002\/jbmr.4886","article-title":"Lesion expansion in gnathic fibrous dysplasia: natural history, indicators of progression, and response to bisphosphonates","volume":"38","author":"Pan","year":"2023","journal-title":"J Bone Miner Res"},{"issue":"4","key":"2024080515261738300_ref13","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1002\/jbmr.3649","article-title":"Age-related changes and effects of bisphosphonates on bone turnover and disease progression in fibrous dysplasia of bone","volume":"34","author":"Florenzano","year":"2019","journal-title":"J Bone Miner Res"},{"key":"2024080515261738300_ref14","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1016\/j.jocn.2017.06.048","article-title":"Bilateral retrobulbar optic neuropathy as the only sign of zoledronic acid toxicity","volume":"44","author":"Lavado","year":"2017","journal-title":"J Clin Neurosci"},{"issue":"6","key":"2024080515261738300_ref15","doi-asserted-by":"crossref","first-page":"331","DOI":"10.3109\/01676830.2015.1078380","article-title":"Bisphosphonate-induced orbital inflammation: a case series and review","volume":"34","author":"Pirbhai","year":"2015","journal-title":"Orbit"},{"issue":"3","key":"2024080515261738300_ref16","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1002\/jbmr.3913","article-title":"An inverse agonist ligand of the PTH receptor partially rescues skeletal defects in a mouse model of Jansen's metaphyseal chondrodysplasia","volume":"35","author":"Noda","year":"2020","journal-title":"J Bone Miner Res"},{"issue":"02","key":"2024080515261738300_ref17","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1055\/s-0035-1549292","article-title":"Management of the eye in facial paralysis","volume":"31","author":"Sohrab","year":"2015","journal-title":"Facial Plast Surg"},{"issue":"2","key":"2024080515261738300_ref18","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1001\/archfaci.2011.9","article-title":"Surgical treatment of the periocular complex and improvement of quality of life in patients with facial paralysis","volume":"13","author":"Henstrom","year":"2011","journal-title":"Arch Facial Plast Surg"},{"issue":"2","key":"2024080515261738300_ref19","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1007\/s00405-007-0422-x","article-title":"Recurrent facial nerve paralysis: an unusual presentation of fibrous dysplasia of the temporal bone","volume":"265","author":"Zaytoun","year":"2008","journal-title":"Eur Arch Otorrinolaringol"},{"issue":"1","key":"2024080515261738300_ref20","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1186\/s12957-017-1302-5","article-title":"Different clinical presentation and management of temporal bone fibrous dysplasia in children","volume":"16","author":"Mierzwinski","year":"2018","journal-title":"World J Surg Oncol"},{"issue":"7","key":"2024080515261738300_ref21","doi-asserted-by":"crossref","first-page":"1039","DOI":"10.1097\/MAO.0b013e3181656954","article-title":"Fibrous dysplasia of the temporal bone presenting with facial nerve palsy and conductive hearing loss","volume":"29","author":"Yu Hon Wan","year":"2008","journal-title":"Otol Neurotol"},{"issue":"Suppl 1","key":"2024080515261738300_ref22","doi-asserted-by":"crossref","first-page":"S2","DOI":"10.1186\/1750-1172-7-S1-S2","article-title":"Clinical guidelines for the management of craniofacial fibrous dysplasia","volume":"7","author":"Lee","year":"2012","journal-title":"Orphanet J Rare Dis"}],"container-title":["JBMR Plus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jbmrplus\/advance-article-pdf\/doi\/10.1093\/jbmrpl\/ziae089\/58516077\/ziae089.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jbmrplus\/article-pdf\/8\/9\/ziae089\/58734271\/ziae089.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jbmrplus\/article-pdf\/8\/9\/ziae089\/58734271\/ziae089.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,5]],"date-time":"2024-08-05T15:54:17Z","timestamp":1722873257000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jbmrplus\/article\/doi\/10.1093\/jbmrpl\/ziae089\/7712555"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,12]]},"references-count":22,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2024,8,4]]}},"URL":"https:\/\/doi.org\/10.1093\/jbmrpl\/ziae089","relation":{},"ISSN":["2473-4039"],"issn-type":[{"type":"electronic","value":"2473-4039"}],"subject":[],"published-other":{"date-parts":[[2024,9]]},"published":{"date-parts":[[2024,7,12]]},"article-number":"ziae089"}}