9.1 Features
A full-thickness macular hole (FTMH) is a complete retinal defect that results in the separation of retinal layers and typically occurs in the fovea. FTMH prevalence has been reported to be 0.2 to 2.9 per 1,000 people. In patients with unilateral macular holes, studies have shown that the risk of developing a hole in the other eye within 5 years ranges from approximately 10 to 20% if the posterior hyaloid is still attached to the fovea. The risk is significantly reduced if a posterior vitreous detachment (PVD) is already present (i.e., < 1%). Conversely, if vitreofoveal traction is present, the risk is quite high (i.e., ~ 50%). Women are at higher risk for primary FTMH development than men. Older age, generally defined as over 65 years, is also associated with increased risk of primary FTMH.
Vitreomacular traction (VMT) during anomalous posterior vitreous separation plays a key role in the formation of primary FTMH. If vitreous liquefaction and contraction outpace the release of the vitreofoveal interface, an FTMH may develop. Secondary FTMH may be due to a number of etiologies including trauma, high myopia, intraocular surgery, macular edema, neovascular age-related macular degeneration following intravitreal injection, and lightning strikes.
Differential diagnosis includes macular pseudohole, VMT, and lamellar macular hole. A pseudohole is a clinical diagnosis based on the fundus appearance that mimics an FTMH. Optical coherence tomography (OCT) confirms no loss of foveal tissue. An epiretinal membrane is typically responsible for the pseudohole appearance. VMT without FTMH may also appear similar on clinical exam. Lamellar macular holes are partial-thickness retinal defects that may exhibit splitting of the inner retinal layers and disruption of the outer retinal layers. Hyporeflective preretinal tissue is often identified on OCT in these lamellar holes.
9.1.1 Common Symptoms
Decreased vision, central scotoma, and/or visual distortion (i.e., metamorphopsia).
9.1.2 Exam Findings
Examination of the macula reveals a round or oval red spot in the central macula often surrounded by a gray halo, representing a cuff of subretinal fluid and/or retinal edema (▶ Fig. 9.1). A cyst at the hole margin or operculum above the hole may be present. Yellowish deposits on the surface of the RPE may be present in the base of the FTMH. A lamellar hole (i.e., not full-thickness) will often be less red and lack a gray halo. A glistening from an epiretinal membrane may be present.
Fig. 9.1 (a) Fundus image demonstrating small full-thickness macular hole (FTMH) with (b) high magnification view demonstrating full-thickness defect and surrounding cystic changes (arrow). (c,d) Larger FTMH with gray surrounding cuff of subretinal fluid (arrow).
9.2 Key Diagnostic Tests and Findings
9.2.1 Optical Coherence Tomography
OCT is the gold standard imaging modality for FTMH and vitreoretinal interface abnormalities (▶ Fig. 9.2, ▶ Fig. 9.3, ▶ Fig. 9.4, ▶ Fig. 9.5). OCT facilitates staging, prognostication, and treatment decision-making OCT imaging will demonstrate full-thickness disruption of all retinal layers in FTMH and also enables visualization of hole size, the presence of VMT, and concurrent macular disease. OCT of the fellow eye also helps to stratify risk for FTMH development through visualizing the vitreoretinal interface. In pseudoholes, OCT will confirm intact foveal tissue, often with an associated epiretinal membrane with alterations to the foveal architecture (▶ Fig. 9.6a). In lamellar macular holes, foveal tissue is often missing or disrupted on OCT. In addition, preretinal thickened epiretinal membrane with hyporeflective material is often seen on OCT in lamellar macular holes (▶ Fig. 9.6).
Fig. 9.2 (a,b) Optical coherence tomography showing full thickness macular hole with vitreomacular traction on one edge of the hole.
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