ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description

Objective: To investigate the clinical outcomes of three surgical approaches for ectopia lentis in Marfan syndrome (MS) patients who had undergone crystalline lens removal with posterior chamber intraocular lens (IOL) implantation techniques comprising the intrascleral fixation of IOL, sutured scleral fixation of IOL, and IOL implantation with the use of a Cionni capsular tension ring (CTR). Methods: This is a retrospective comparative study, including 35 eyes of 21 patients who underwent the intrascleral fixation of IOL (group 1), scleral IOL fixation with the Z-suture (group 2), and IOL implantation with the use of a Cionni CTR (group 3) following crystalline lens removal. The surgical indications were as follows: no improvement in visual function after eyeglasses or contact lens application due to excessive irregular astigmatism and advanced crystalline lens decentration in which the edge of the crystalline lens came up to the optical axis, or dislocation of the crystalline lens resulting in aphakia and secondary glaucoma due to lens dislocation. The surgical outcomes and complications due to surgery were compared between the groups. Results: The mean age of the patients in the study was 12.3 ± 8.7 years (5–32 years). There were 10 eyes in group 1, 13 eyes in group 2, and 12 eyes in group 3. Visual acuity improved significantly in each group after surgery. Ocular residual astigmatism did not differ significantly between the groups ( p = 0.51). Conclusion: There were no significant differences between the three surgical approaches in the current study in terms of the postoperative results and complications.

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The molecular make up of smoldering myeloma highlights the evolutionary pathways leading to multiple myeloma

Nature Communications ◽

10.1038/s41467-020-20524-2 ◽

2021 ◽

Vol 12 (1) ◽

Author(s):

Eileen M. Boyle ◽

Shayu Deshpande ◽

Ruslana Tytarenko ◽

Cody Ashby ◽

Yan Wang ◽

...

Keyword(s):

Tumour Suppressor Genes ◽

Multiple Time ◽

Clonal Structure ◽

Time To Progression ◽

Novel Mutations ◽

Evolutionary Patterns ◽

Risk Of Progression ◽

Multiple Time Points ◽

Smoldering Myeloma ◽

Copy Number Changes

AbstractSmoldering myeloma (SMM) is associated with a high-risk of progression to myeloma (MM). We report the results of a study of 82 patients with both targeted sequencing that included a capture of the immunoglobulin and MYC regions. By comparing these results to newly diagnosed myeloma (MM) we show fewer NRAS and FAM46C mutations together with fewer adverse translocations, del(1p), del(14q), del(16q), and del(17p) in SMM consistent with their role as drivers of the transition to MM. KRAS mutations are associated with a shorter time to progression (HR 3.5 (1.5–8.1), p = 0.001). In an analysis of change in clonal structure over time we studied 53 samples from nine patients at multiple time points. Branching evolutionary patterns, novel mutations, biallelic hits in crucial tumour suppressor genes, and segmental copy number changes are key mechanisms underlying the transition to MM, which can precede progression and be used to guide early intervention strategies.

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