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

Autor: Richa Dhiman, Lovepreet Kaur, Nancy Sharma, Mohan Lal Pandey
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: Oman Journal of Ophthalmology, Vol 16, Iss 2, Pp 310-313 (2023)
Druh dokumentu: article
ISSN: 0974-620X
DOI: 10.4103/ojo.ojo_108_22
Popis: 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.
Databáze: Directory of Open Access Journals