Diverse presentations of ectopia lentis and lens coloboma in Marfan's syndrome.

Autor: Dhiman R; Department of Ophthalmology, Government Medical College, Chandigarh, India., Kaur L; Department of Ophthalmology, Maharishi Markandeshwar Institute of Medical Sciences and Research, Ambala, Haryana, India., Sharma N; Department of Ophthalmology, Maharishi Markandeshwar Institute of Medical Sciences and Research, Ambala, Haryana, India., Pandey ML; Department of Ophthalmology, Maharishi Markandeshwar Institute of Medical Sciences and Research, Ambala, Haryana, India.
Jazyk: angličtina
Zdroj: Oman journal of ophthalmology [Oman J Ophthalmol] 2023 Jun 27; Vol. 16 (2), pp. 310-313. Date of Electronic Publication: 2023 Jun 27 (Print Publication: 2023).
DOI: 10.4103/ojo.ojo_108_22
Abstrakt: 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.
Competing Interests: There are no conflicts of interest.
(Copyright: © 2023 Oman Ophthalmic Society.)
Databáze: MEDLINE