Subscribe to Newsletter
Subspecialties Retina, Basic & Translational Research

A DRAMatic Result

Autophagy – an intracellular degradation system that delivers cytoplasmic contents to the lysosome for breakdown and recycling – is one of those simple processes in cell biology that actually plays a wide variety of physiological and pathophysiological roles (1). And it turns out that mutations in an autophagy-related gene expressed in the retinal pigment epithelium (RPE) are the cause of a newly identified type of adult-onset retinal dystrophy with early macular involvement.

Figure 1. Schematic diagram of DRAM2 showing the location of the identified amino acids within the protein domains.

Results published in the American Journal of Human Genetics (2) describe people from five families with a variety of DRAM2 mutations (Figure 1), all of which led to the loss of central vision from the ages of ~30–40 years onwards, and also the loss of peripheral vision in older individuals. DRAM2, or to give it its full name, DNA damage-regulated autophagy modulator protein 2, encodes a transmembrane lysosomal protein that plays a role in initiating autophagy, and is expressed in both photoreceptors and the surface of RPE cells.

One of the paper’s co-authors and leader of the team that made the initial discovery, Manir Ali, noted that, “a high level of autophagy takes place in RPE due to the need for constant renewal of the photoreceptor outer segments following daily light-induced damage”, explaining that “it is therefore likely that, in the absence of correctly functioning DRAM2 protein, autophagy and photoreceptor renewal is reduced, leading to thinning of the photoreceptor cell layer. Our findings suggest that DRAM2 is essential for photoreceptor survival.”

Receive content, products, events as well as relevant industry updates from The Ophthalmologist and its sponsors.

When you click “Subscribe” we will email you a link, which you must click to verify the email address above and activate your subscription. If you do not receive this email, please contact us at [email protected].
If you wish to unsubscribe, you can update your preferences at any point.

  1. N Mizushima, “Autophagy: Process and Function”, Genes & Dev, 21, 2861–2873 (2000). PMID: 18006683.
  2. ME El-Asrag, et al., “Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement”, Am J Hum Genet, 96, 695–708 (2015). PMID: 25983245.
About the Author
Roisin McGuigan

I have an extensive academic background in the life sciences, having studied forensic biology and human medical genetics in my time at Strathclyde and Glasgow Universities. My research, data presentation and bioinformatics skills plus my ‘wet lab’ experience have been a superb grounding for my role as a deputy editor at Texere Publishing. The job allows me to utilize my hard-learned academic skills and experience in my current position within an exciting and contemporary publishing company.

Related Product Profiles
Uncover the Unique DNA of SPECTRALIS®

| Contributed by Heidelberg Engineering

Subspecialties Retina
ForeseeHome® – remote monitoring to help detect wet AMD earlier and improve outcomes

| Contributed by Notal Vision

Product Profiles

Access our product directory to see the latest products and services from our industry partners

Most Popular
Register to The Ophthalmologist

Register to access our FREE online portfolio, request the magazine in print and manage your preferences.

You will benefit from:
  • Unlimited access to ALL articles
  • News, interviews & opinions from leading industry experts
  • Receive print (and PDF) copies of The Ophthalmologist magazine



The Ophthalmologist website is intended solely for the eyes of healthcare professionals. Please confirm below: