{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T08:24:29Z","timestamp":1778574269307,"version":"3.51.4"},"reference-count":30,"publisher":"BMJ","issue":"8","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2019,7,19]]},"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:p>Alport syndrome (AS) is a hereditary disease with various modes of inheritance, X-linked being the the most common. Anterior lenticonus is the characteristic abnormality along with perimacular and peripheral fleck retinopathy. Our two cases of AS had simultaneous anterior and posterior lenticonus with severe temporal macular thinning on optical coherence tomography with no specific renal symptomatology and were diagnosed as AS without any invasive renal biopsy. First patient was a 19-year-old man who presented with compound myopia due to bilateral anterior and posterior lenticonus with perimacular fleck retinopathy and lozenge sign and bilateral moderate sensorineural hearing loss (SNHL). Second patient was a 24-year-old man who presented with difficulty in vision due to bilateral anterior and posterior lenticonus with bilateral severe SNHL. Our cases emphasise the crucial role of an ophthalmologist in diagnosing AS before the onset of renal symptoms and prompting further nephrological work-up in the patient or the carrier.<\/jats:p>","DOI":"10.1136\/bcr-2019-229554","type":"journal-article","created":{"date-parts":[[2019,8,16]],"date-time":"2019-08-16T03:45:20Z","timestamp":1565927120000},"page":"e229554","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":4,"title":["Alport syndrome with bilateral simultaneous anterior and posterior lenticonus with severe temporal macular thinning"],"prefix":"10.1136","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7118-2329","authenticated-orcid":false,"given":"Vinita","family":"Gupta","sequence":"first","affiliation":[{"name":"Ophthalmology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mahsa","family":"Jamil","sequence":"additional","affiliation":[{"name":"Ophthalmology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saurabh","family":"Luthra","sequence":"additional","affiliation":[{"name":"Ophthalmology, Drishti Eye Institute, Dehradun, Uttarakhand, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0483-7014","authenticated-orcid":false,"given":"Athul S","family":"Puthalath","sequence":"additional","affiliation":[{"name":"Ophthalmology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2019,8,15]]},"reference":[{"key":"2025082802530608000_12.8.e229554.1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.87.2.212"},{"key":"2025082802530608000_12.8.e229554.2","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.08-3323"},{"key":"2025082802530608000_12.8.e229554.3","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.10581014"},{"key":"2025082802530608000_12.8.e229554.4","doi-asserted-by":"publisher","DOI":"10.3109\/13816819709041431"},{"key":"2025082802530608000_12.8.e229554.5","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.67.8.493"},{"key":"2025082802530608000_12.8.e229554.6","doi-asserted-by":"crossref","first-page":"379","DOI":"10.4103\/0974-9233.71591","article-title":"Progressive posterior lenticonus in a patient with alport syndrome","volume":"17","author":"Al-Mahmood","year":"2010","journal-title":"Middle East Afr J Ophthalmol"},{"key":"2025082802530608000_12.8.e229554.7","doi-asserted-by":"crossref","first-page":"228","DOI":"10.22336\/rjo.2018.35","article-title":"Bilateral combined anterior and posterior lenticonus in Alport\u2019s Syndrome","volume":"62","author":"Tiwari","year":"2018","journal-title":"Rom J Ophthalmol"},{"key":"2025082802530608000_12.8.e229554.8","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1001\/jamaophthalmol.2013.1452","article-title":"Temporal macular thinning associated with X-linked Alport syndrome","volume":"131","author":"Ahmed","year":"2013","journal-title":"JAMA Ophthalmol"},{"key":"2025082802530608000_12.8.e229554.9","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1080\/13816810.2017.1401088","article-title":"Temporal retinal thinning and the diagnosis of Alport syndrome and Thin basement membrane nephropathy","volume":"39","author":"Chen","year":"2018","journal-title":"Ophthalmic Genet"},{"key":"2025082802530608000_12.8.e229554.10","first-page":"65","article-title":"Lenticonus","volume":"277","author":"Jacobs","year":"2000","journal-title":"Bull Soc Belge Ophtalmol"},{"key":"2025082802530608000_12.8.e229554.11","doi-asserted-by":"crossref","first-page":"152","DOI":"10.4103\/2320-3897.138861","article-title":"Atoll sign in posterior lenticonus: a case report of bilateral posterior lenticonus with review of literature","volume":"2","author":"Ranjan","year":"2014","journal-title":"J Clin Ophthalmol Res"},{"key":"2025082802530608000_12.8.e229554.12","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-01447-3"},{"key":"2025082802530608000_12.8.e229554.13","unstructured":"Kashtan CE . 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