Published: 2025 | Retinal Cases & Brief Reports (Vol. 19, No. 1, pp. 80-83)
Alport syndrome (AS), a rare genetic disorder (1 in 5,000–50,000), wreaks havoc on collagen IV, disrupting kidneys, ears, and eyes. Ocular quirks like macular holes—though uncommon—can blindside patients. A compelling case report by Brenda Zhou, MD, and colleagues from Northwestern University, published in Retinal Cases & Brief Reports (2025), dives into the vitreoretinal oddities encountered during macular hole repair in AS, revealing surgical twists and a path to success.
The Case: A Bilateral Bind
A 50-year-old woman with AS (homozygous COL4A3 mutation) and a renal transplant history faced vision woes. Her right eye had a chronic, giant full-thickness macular hole (FTMH, 1,176 μm), vision at 20/400—she declined surgery. Her left eye, initially showing “stair-case” foveal thinning (an AS hallmark), later developed a smaller FTMH (313 μm) with vision dropping to 20/80. Surgery was greenlit for the left eye. Intraoperatively, surprises emerged: the vitreous was fibrillar and clingy, sticking tightly to the retina, and the internal limiting membrane (ILM) was nearly absent. After vitrectomy, meticulous posterior hyaloid peeling (aided by a flexible loop cannula), and 15% C3F8 gas tamponade, the hole closed within two months.
Why It’s Tricky
AS messes with basement membranes, including the ILM and vitreoretinal interface. The sticky, strand-like vitreous and scant ILM suggest abnormal collagen IV alters traction dynamics, possibly sparking macular holes. Standard ILM peeling—a go-to for FTMH—wasn’t an option here, echoing a prior report. Yet, thorough hyaloid removal alone relieved traction enough for closure, hinting at a tailored approach for AS.
Why It Matters
Macular holes in AS are rare but brutal, often bilateral and progressive. Literature shows mixed surgical outcomes—some holes close, others don’t, especially giant ones. This case, with its smaller, acute hole, underscores early intervention’s edge. It also flags AS patients for close monitoring, as unilateral holes may foreshadow fellow-eye trouble.
The Catch
It’s one case, and ILM absence isn’t universal in AS. Success sans peeling might not scale to larger or chronic holes, needing broader validation.
Takeaway for Retina Aficionados
In AS, macular hole surgery faces a fibrillar, adherent vitreous and missing ILM—yet hyaloid peeling alone can win. Peek at Retinal Cases & Brief Reports (2025) for the intraoperative visuals!
