“How do I know that’s the right option for me and my baby?” That was the question posed to me by a patient with a prenatal diagnosis of fetal orbital teratoma. After pausing for a moment, I reflected on my decision-making process. Although we were in uncharted territory, the core knowledge of established facts, and my thoughtful extrapolation, allow me to formulate a treatment plan. This patient’s predicament is not unique.

In the absence of treatment guidelines, consensus statements serve as the foundation for medical decision making. This is particularly true when choosing between highly consequential management options for the treatment of rare diseases. However, the authors’ experience at a tertiary oncology center highlights that consensus viewpoints are lacking for many of the entities we treat. When faced with this scenario, how does one navigate through the complex decision-making process? How do we decide, when not only grappling with vision preservation, but also matters of life and death?

Having been in practice for almost 25 years, I (Dr. Singh) have distilled the key elements of my approach. To practice this, I encourage my fellows and trainees to roll up their sleeves and evoke their inner horticulturist.

1. TAKE IN THE TREE: CONTEXT IS KEY

You deliver the diagnosis of small choroidal melanoma to your patient. While the natural inclination may be to jump into action, the next steps of treatment should be based on who we are treating and not the disease in isolation. For instance, the approach to caring for a 90-year-old with an incidentally discovered small choroidal melanoma should not be the same as for a 40-year-old nurse who was found to have a mass in the macula causing visual symptoms. Given the low rates of mortality with small choroidal melanoma (1% to 3% at 5 years),¹ close observation to document growth would be a reasonable for an elderly patient who is more likely to die of other causes (6 times more) than metastatic melanoma.² Conversely, we would be inclined to promptly treat a young patient with occupational demands and decades of life ahead of her.

2. EXAMINE THE BRANCHES: ASSESS THE CRITICAL COMPONENTS

Once you have made your clinical assessment, ask yourself whether any ancillary studies or diagnostic procedures are indicated. Consider the example of a 74-year-old Black male with a large juxtapapillary choroidal melanoma with counting fingers vision. The tumor has all the hallmarks of choroidal melanoma on ophthalmoscopic examination: it is choroidal in origin and has a pigmented brown appearance and mushroom-shaped morphology. Ultrasonography A-scan of the lesion reveals low internal reflectivity. Although there is no ambiguity about the diagnosis or need for enucleation, choroidal melanoma in a Black patient is an uncommon occurrence.³ In such a case, it would be wise to offer a diagnostic fine-needle aspiration biopsy prior to definitive management.⁴ This additional step removes any shadow of a doubt for both the clinician and patient.

3. ZOOM OUT TO SEE THE FOREST: MAKE CORRELATIONS

It can be insightful to draw parallels between diseases that seem disparate from a bird’s eye view. Although radiation retinopathy is a unilateral, iatrogenic sequalae of cancer care, it shares several pathophysiologic features with diabetic retinopathy. Doing so allows us to harness the efficacy of treatments used in diabetic retinopathy (intravitreal steroids and anti-VEGF agents) when managing patients with radiation retinopathy. Similarly, the principles of treating choroidal neovascularization in exudative AMD can be translated to achieving excellent visual outcomes in the setting of a choroidal nevus associated choroidal neovascular membrane.

4. DON’T GET LOST IN THE WEEDS: IDENTIFY WHAT IS SALIENT

Many of the patients we care for in our clinic have a complex cancer history with a known primary process. They subsequently develop visual symptoms and are referred to our clinic. Although the natural tendency may be to dive into the laundry list of treatments and their respective mechanisms of action, it is important not to lose sight of the goal, which is to isolate the etiology for their visual symptoms. For example, a patient with metastatic breast cancer presents with blurry vision and is found to have subretinal fluid in the macula. Once the anatomic cause of vision loss has been identified, we can examine the medical record critically. With this focused approach, it becomes apparent that the patient has received high-dose intravenous steroids (a known risk factor for CSR) in conjunction with chemotherapy infusions. Viewing the patient’s medical history through this narrow lens allows us to ignore the background weeds and extract what is relevant.

5. SPREAD YOUR PS: LEAN ON YOUR NETWORK

Just as a nature lover would join an outdoors club, we too must nurture relationships with peers in the ophthalmic oncology community. Investing time to develop a network of colleagues whose opinion you respect and judgement you trust pays immeasurable dividends. It allows us to ask for their management recommendation as well as their underlying rationale, thereby fostering personal professional development and ensuring quality patient care.⁵

6. SLOW DOWN AND TAKE A STROLL WITH YOUR THOUGHTS

Daniel Kahneman, the recipient of the Nobel Prize in Economics, put forward a landmark theory that identified 2 systems of thinking.⁶ Type 1 thinking is fast, intuitive, and unconscious. This is directly juxtaposed with Type 2 thinking, a conscious process that is deliberate and slow. The realities of practicing medicine in a fast-paced, modern setting necessitates Type 1 thinking.

Type 1 thinking, however, exposes us to cognitive biases such as ascertainment bias and the “bandwagon effect.”⁷ Years of training and honing our skills enables us to mitigate these effects.

When presented with challenging clinical cases, do not feel confined by the 15-minute consultation window. Utilize your Type 2 thinking to conduct a thought experiment to help sift through the data you have collected. A thought experiment is a structured process that helps explore complex situations by thinking of implications of each decision pathway, such as efficacy of therapy, effect on vision, and impact on life.⁸

After following the blueprint outlined above, it is time to coherently present your recommendations to the patient and his family. It is crucial to have a detailed, unhurried approach to a discussion that discloses alternative therapeutic options and the reasoning behind your recommendations. Summarize this conversation by formulating a letter that is shared with the patient.

As I reflect on my experience, it is evident that the Type 2 system of thinking is most valuable and successful when treating patients with rare diseases. To that end, I say: stop and smell the roses. RP

REFERENCES

1. Yupari RJ, Bena J, Wilkinson A, Suh J, Singh A. Small choroidal melanoma: outcomes following apical height dose brachytherapy. Br J Ophthalmol. 2021;105(8):1161-1165. doi:10.1136/bjophthalmol-2020-316873
2. Mortality in patients with small choroidal melanoma. COMS report no. 4. The Collaborative Ocular Melanoma Study Group. Arch Ophthalmol. 1997;115(7):886-893.
3. Salvi SM, Singh AD. Diagnostic and Management Challenges of Ciliary Body Tumor in an African-American Patient. Ocul Oncol Pathol. 2015;2(1):16-19. doi:10.1159/000381809
4. Medina CA, Biscotti CV, Singh N, Singh AD. Diagnostic Cytologic Features of Uveal Melanoma. Ophthalmology. 2015;122(8):1580-1584. doi:10.1016/j.ophtha.2015.04.013
5. Belfort RN, Singh N, Singh AD. Ophthalmic Oncology Outreach: Harnessing the Power of Social Media. Int Ophthalmol Clin. 2019;59(2):101-105. doi:10.1097/IIO.0000000000000268
6. Kahneman D. Thinking fast and slow. New York, NY: Farrar Strauss and Giroux; 2013.
7. Bate L, Hutchinson A, Underhill J, Maskrey N. How clinical decisions are made. Br J Clin Pharmacol. 2012;74(4):614-620. doi:10.1111/j.1365-2125.2012.04366.x
8. Thought experiment: how einstein solved difficult problems. Farnham Street. Accessed August 17, 2021. https://fs.blog/2017/06/thought-experiment/