{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T18:12:44Z","timestamp":1774980764747,"version":"3.50.1"},"reference-count":1,"publisher":"BMJ","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1994,9]]},"abstract":"<jats:p>Congenital bilateral microphthalmos is a rare malformation of the eye, which ranges from extreme to mild reduction of total axial length. Microphthalmos may occur as an isolated ocular abnormality or as part of a systemic disorder, and different classifications of the condition have been attempted. We describe a large pedigree with 14 persons in four generations affected with bilateral microphthalmos without other ocular or systemic signs. An autosomal dominant trait with complete penetrance is proposed. Five subjects underwent a complete ophthalmological evaluation. The total axial length was measured by A scan ultrasonography in all persons. Ultrasonography showed a reduction of the total axial length (range 18.4-19.7 mm) and a reduced vitreous cavity length (range 11.4-13.5 mm) in all investigated patients. All the patients had microcornea (range 8-9.7 mm). No other ocular anomalies or associated systemic malformations were found. A review of published reports also suggests that simple, partial, posterior, pure microphthalmos and nanophthalmos are similar clinical entities sharing total axial length and vitreous cavity length reduction. Therefore, the term simple microphthalmos is proposed to identify these clinical conditions.<\/jats:p>","DOI":"10.1136\/jmg.31.9.721","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"721-725","source":"Crossref","is-referenced-by-count":39,"title":["Autosomal dominant simple microphthalmos."],"prefix":"10.1136","volume":"31","author":[{"given":"E M","family":"Vingolo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Steindl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Forte","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Zompatori","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Iannaccone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Sciarra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Del Porto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M R","family":"Pannarale","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1994,9,1]]},"reference":[{"key":"ref_1","article-title":"Discussion In this study five patients were diagnosed as having microphthalmos based on TAL reduction (table 1). All of them also showed microcornea. Regarding this clinical association, Weiss et al2 related the presence of microcomea to a TAL less than 18 mm. This is in agreement with other authors,9 171922 who reported microcomea coexisting with microphthalmos with TAL ranging between 13 and 20 5 mm (table 2). On the other hand, normal comeal diameters were found in several studies (table 2) 256112228 To the best of our knowledge, this clinical association has not been considered from a genetic point of view","unstructured":"Discussion In this study five patients were diagnosed as having microphthalmos based on TAL reduction (table 1). All of them also showed microcornea. Regarding this clinical association, Weiss et al2 related the presence of microcomea to a TAL less than 18 mm. This is in agreement with other authors,9 171922 who reported microcomea coexisting with microphthalmos with TAL ranging between 13 and 20 5 mm (table 2). On the other hand, normal comeal diameters were found in several studies (table 2) 256112228 To the best of our knowledge, this clinical association has not been considered from a genetic point of view."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.31.9.721","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T17:34:46Z","timestamp":1759685686000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.31.9.721"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,9]]},"references-count":1,"journal-issue":{"issue":"9","published-online":{"date-parts":[[1994,9,1]]},"published-print":{"date-parts":[[1994,9]]}},"alternative-id":["10.1136\/jmg.31.9.721"],"URL":"https:\/\/doi.org\/10.1136\/jmg.31.9.721","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,9]]}}}