• Profile
Close

Study unveils clinical course of TBK1-associated glaucoma

American Academy of Ophthalmology News Jul 29, 2020

This study is the first to report the clinical features of glaucoma associated with a TANK binding kinase (TBK1) gene duplication.

Study design

In this retrospective, observational case series, researchers assessed 7 members (14 eyes) of a pedigree with a TBK1 gene duplication. Clinical features such as IOP, central corneal thickness (CCT), optic nerve head appearance and Humphrey visual field findings were followed from diagnosis to the latest follow-up (March 1985–May 2018).

Outcomes

Mean age at time of diagnosis was 35 (range 22–46 years), with an IOP of 21 mm Hg or less at presentation and throughout follow-up; the average initial IOP was 16 mm Hg. The average CCT was 506 μm (range 463–541 μm) and the average cup-to-disc ratio was 0.9 (range 0.8–0.99). At the initial visit, 1 eye met the criteria for legal blindness. The first visual field mean deviation was, on average, -9.0, with 29% of eyes having no field defects, 29% with early field defects and 43% with severe field defects.

Topical medication, laser trabeculoplasty and/or trabeculectomy led to a mean 28% IOP reduction in 3 eyes. None of the family members had fast progression (>1 dB/year). Four eyes (33%) had stable visual fields with a 22% reduction in IOP. Three eyes (25%) had slow progression (<0.5 dB/year) with a 45% IOP reduction. Two of these eyes progressed despite having an IOP of 10 mm Hg or less. Five eyes (42%) progressed at a moderate rate (0.5–1 dB/year) and demonstrated a 30.5% IOP reduction; 3 of these eyes received trabeculectomies.

Limitations

This study is limited by its small sample size and gaps in follow-up visits.

Clinical significance

This study presents a few clinical points. Physicians must be more cautious and observant when managing young patients with glaucoma. Despite slow progression in this subgroup, this progression can become clinically significant when following a young patient over decades. Genetic mutations and family history must also be considered in this patient population. Finally, based on stabilized disease in 1 case in which IOP reduced to 10 mm Hg or less, lower IOP may slow disease progression.

Go to Original
Only Doctors with an M3 India account can read this article. Sign up for free or login with your existing account.
4 reasons why Doctors love M3 India
  • Exclusive Write-ups & Webinars by KOLs

  • Nonloggedininfinity icon
    Daily Quiz by specialty
  • Nonloggedinlock icon
    Paid Market Research Surveys
  • Case discussions, News & Journals' summaries
Sign-up / Log In
x
M3 app logo
Choose easy access to M3 India from your mobile!


M3 instruc arrow
Add M3 India to your Home screen
Tap  Chrome menu  and select "Add to Home screen" to pin the M3 India App to your Home screen
Okay