{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T02:05:34Z","timestamp":1777946734717,"version":"3.51.4"},"reference-count":10,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2018,9,14]]},"abstract":"<jats:p>The tuberous sclerosis complex is a rare disease, with autosomal dominant transmission, with multisystemic involvement including ophthalmologic. Retinal hamartomas and retinal achromic patch are the most frequent ocular findings. Other ophthalmic signs and symptoms are relatively rare in this disease.<\/jats:p>\n               <jats:p>We describe the case of a young woman with tuberous sclerosis who presented with horizontal binocular diplopia and decreased visual acuity without complaints of nausea, vomiting or headache. She had right abducens nerve palsy, pale oedema of both optic discs and retinal hamartomas. An obstructive hydrocephalus caused by an intraventricular expansive lesion was identified in brain CT.<\/jats:p>\n               <jats:p>Observation by the ophthalmologist is indicated in all confirmed or suspected cases of tuberous sclerosis to aid in clinical diagnosis, monitoring of retinal hamartomas or identification of poorly symptomatic papilloedema.<\/jats:p>","DOI":"10.1136\/bcr-2018-226662","type":"journal-article","created":{"date-parts":[[2018,10,26]],"date-time":"2018-10-26T04:53:22Z","timestamp":1540529602000},"page":"bcr-2018-226662","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Tuberous sclerosis complex: a clinical case with multiple ophthalmological manifestations"],"prefix":"10.1136","volume":"2018","author":[{"given":"Tiago","family":"Maio","sequence":"first","affiliation":[{"name":"Ophthalmology, Hospital Pedro Hispano, Matosinhos, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9","family":"Lemos","sequence":"additional","affiliation":[{"name":"Ophthalmology, Hospital Pedro Hispano, Matosinhos, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jorge","family":"Moreira","sequence":"additional","affiliation":[{"name":"Ophthalmology, Hospital Pedro Hispano, Matosinhos, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Filipa","family":"Sampaio","sequence":"additional","affiliation":[{"name":"Ophthalmology, Hospital Pedro Hispano, Matosinhos, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2018,10,25]]},"reference":[{"key":"2025082802492801000_2018.oct25_1.bcr-2018-226662.1","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1111\/ceo.12806","article-title":"Ophthalmic manifestations of tuberous sclerosis: a review","volume":"45","author":"Hodgson","year":"2017","journal-title":"Clin Exp Ophthalmol"},{"key":"2025082802492801000_2018.oct25_1.bcr-2018-226662.2","first-page":"1","article-title":"Pathophysiology and management of glaucoma associated with phakomatoses","volume":"00","author":"Thavikulwat","year":"2018","journal-title":"J Neurosci Res"},{"key":"2025082802492801000_2018.oct25_1.bcr-2018-226662.3","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2013.08.001"},{"key":"2025082802492801000_2018.oct25_1.bcr-2018-226662.4","unstructured":"Wataya-Kaneda M , Seyama Y , Nihigori CH , et al . Revised tuberous sclerosis complex diagnostic criteria and treatment guidelines. Jpn. J. Dermatol 2017."},{"key":"2025082802492801000_2018.oct25_1.bcr-2018-226662.5","doi-asserted-by":"crossref","first-page":"30126","DOI":"10.1016\/j.survophthal.2017.10.007","article-title":"Ophthalmic manifestations in neurofibromatosis type 1","volume":"63","author":"Kinori","year":"2018","journal-title":"Surv Ophthalmol"},{"key":"2025082802492801000_2018.oct25_1.bcr-2018-226662.6","doi-asserted-by":"crossref","first-page":"1663","DOI":"10.2147\/OPTH.S23970","article-title":"Bilateral presumed astrocytic hamartomas in a patient with retinitis pigmentosa","volume":"5","author":"Kinori","year":"2011","journal-title":"Clin Ophthalmol"},{"key":"2025082802492801000_2018.oct25_1.bcr-2018-226662.7","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1159\/000324037","article-title":"Evolution of an astrocytic hamartoma of the optic nerve head in a patient with retinitis pigmentosa - photographic documentation over 2 years of follow-up","volume":"2","author":"Loukianou","year":"2011","journal-title":"Case Rep Ophthalmol"},{"key":"2025082802492801000_2018.oct25_1.bcr-2018-226662.8","doi-asserted-by":"publisher","DOI":"10.1159\/000309399"},{"key":"2025082802492801000_2018.oct25_1.bcr-2018-226662.9","doi-asserted-by":"crossref","first-page":"1809","DOI":"10.1016\/j.ophtha.2016.04.011","article-title":"Retinal astrocytic hamartoma arises in nerve fiber layer and shows \"moth-eaten\" optically empty spaces on optical coherence tomography","volume":"123","author":"Shields","year":"2016","journal-title":"Ophthalmology"},{"key":"2025082802492801000_2018.oct25_1.bcr-2018-226662.10","first-page":"139","article-title":"Aggressive retinal astrocytomas in four patients with tuberous sclerosis complex","volume":"102","author":"Shields","year":"2004","journal-title":"Trans Am Ophthalmol Soc"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2018-226662","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T09:49:38Z","timestamp":1756374578000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2018-226662"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,10,25]]},"references-count":10,"alternative-id":["10.1136\/bcr-2018-226662"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2018-226662","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,10,25]]}}}