Marfan\'s syndrome (MFS) is an autosomal dominant connective tissue disorder with defect in the fibrillin-1 gene. The most common ocular manifestation is subluxated lens in the superotemporal direction, accounting for 50%-85% of total cases. The association of lens coloboma with MFS has been described in literature, but the coexistence of lens coloboma with ectopia lentis is a rare feature. Here, we describe three cases of MFS including a case of bilateral lens coloboma with ectopia lentis: case 1 - a 39-year-old male with inferotemporal lens subluxation in the right eye and superotemporal lens subluxation in the left eye with open-angle glaucoma and high myopia, case 2 - a 15-year-old child with bilateral superonasal lens subluxation with lens coloboma, and case 3 - a 56-year-old female with bilateral lens coloboma. Case 1 and case 2 had clear lenses with good refractive correction; hence, they were optically rehabilitated with contact lenses, whereas case 3 was advised for cataract surgery. It is important to distinguish the lens coloboma from a more common entity, ectopia lentis as former usually remains stable while the latter might need a surgical intervention.

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Lens colobomas extending more than 4 clock hours and causing visual impairment require lens extraction along with capsular support devices with scleral fixation for adequate centration of the capsular bag and for prevention of capsular fornix aspiration with inadvertent extension of zonular dialysis intraoperatively. In this case series, we describe a technique for the management of isolated lens colobomas involving 4-5 clock hours by clear lens extraction and intraocular lens implantation using a combination of a capsular tension ring with a capsular tension segment (CTS) for the centration and stability of the capsular bag. Hoffman\'s corneoscleral pocket and half-bow sliding knot technique were used for scleral fixation of the CTS.

BACKGROUND: Marfan syndrome (MS), a connective tissue disorder that affects ocular, skeletal, and cardiovascular systems, is caused by heterozygous pathogenic variants in FBN1. To date, over 1800 different pathogenic variants have been reported.
METHODS: In the present study, FBN1 sequence analysis was performed in a family and two unrelated patients with MS.
RESULTS: Three novel pathogenic variants were detected. Two of these variants [c.6610T>C; p.(Cys2204Arg) and c.1956T>G; p.(Cys652Trp)], which affect a cysteine residue, were associated with MS with ectopia lentis, whereas the mutation causing a premature stop codon [c.2506delA; p.(Ser836ValfsX10)] leads to a classical MS of a milder phenotype.
CONCLUSIONS: We anticipate that the three novel pathogenic variants identified in this study will provide further support for the clinical relevance of variants in the large FBN1 gene.