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The phenotypic spectrum of ADAMTSL4-associated ectopia lentis: Additional cases, complications, and review of literature.
Knight LSW, Mullany S, Taranath DA, Ruddle JB, Barnett CP, Sallevelt SCEH, Berry EC, Marshall HN, Hollitt GL, Souzeau E, Craig JE, Siggs OM. Knight LSW, et al. Mol Vis. 2022 Sep 4;28:257-268. eCollection 2022. Mol Vis. 2022. PMID: 36284667 Free PMC article. Review.
The main ocular phenotypes included ectopia lentis (95/95, 100%), ectopia lentis et pupillae (18/95, 19%), iris transillumination (13/95, 14%), iridodonesis (12/95, 13%), persistent pupillary membrane (12/95, 13%), and early-onset cataract or lens opac …
The main ocular phenotypes included ectopia lentis (95/95, 100%), ectopia lentis et pupillae (18/95, 19%), iris …
Genetics of ectopia lentis.
Sadiq MA, Vanderveen D. Sadiq MA, et al. Semin Ophthalmol. 2013 Sep-Nov;28(5-6):313-20. doi: 10.3109/08820538.2013.825276. Semin Ophthalmol. 2013. PMID: 24138040 Review.
Gene mutations have been identified for lens subluxation associated with Marfan syndrome, Weill Marchesani syndrome, Ectopia Lentis simplex, Ectopia Lentis et pupillae, Ehlers Danlos syndrome, homocystinuria, and sulfite oxidase deficiency. ...
Gene mutations have been identified for lens subluxation associated with Marfan syndrome, Weill Marchesani syndrome, Ectopia Lentis simplex, …
Ectopia lentis et pupillae syndrome in three generations.
Cruysberg JR, Pinckers A. Cruysberg JR, et al. Br J Ophthalmol. 1995 Feb;79(2):135-8. doi: 10.1136/bjo.79.2.135. Br J Ophthalmol. 1995. PMID: 7696232 Free PMC article. Review.
In nine members from three generations and in a distant relative, at least three significant characteristics of the ectopia lentis et pupillae syndrome were established including ectopia lentis, ectopia pupillae, persistent pupillary membrane, iris tra …
In nine members from three generations and in a distant relative, at least three significant characteristics of the ectopia lentis