Connective tissue disorders and eye: A review and recent updates

Abstract

Collagen vascular disorders (CVDs), also known as connective tissue diseases (CTDs), are a heterogeneous group of entities that affect the connective tissues and are capable of causing end-organ damage to multiple systems, primarily cardiopulmonary and musculoskeletal. However, the occurrence and severity are highly variable among patients. Ocular involvement occurs in a significant number of these disorders and may precede the onset of other extraocular features, thereby serving as an important marker in the diagnosis of these diseases. A timely and accurate diagnosis enables the management of complications. CTDs are primarily immune-mediated inflammatory diseases; however, classifications have encompassed heritable disorders affecting collagen-containing structures and disorders of vascular development. A review of literature published until 25 January 2022 and collected from various databases using the relevant keywords was conducted. All publications (original articles, review articles, as well as case reports) describing the ocular features in CTDs were studied in detail. The objective of this review is to recognize the common ophthalmic presentations of various autoimmune and heritable CTDs, distinguish them from overlapping diseases, elaborate on the prognosis and management of these varied eye presentations, and deliberate on their impact on other ophthalmic surgeries.

Keywords: Autoimmune diseases; Marfan syndrome; collagen disorder; connective tissue; heritable disorders; ocular abnormalities; rheumatoid arthritis.

Figure 1

Temporal subluxation of crystalline lens in a patient of Marfan syndrome

Figure 2

(a, b) Retroillumination images of bilateral anterior lenticonus in a patient with Alport syndrome. (c, d) Slit images of anterior lenticonus in the same patient