Retinal diseases in the cross hairs of optometrists at Academy 2025

A Rapid Fire presentation on inherited retinal diseases (IRDs) described how the scenario for patients with IRDs has changed, and a key is that genetic testing is more readily available than ever before.

IRDs are rare but prevalent at the same time, according to Andrew Rixon, OD, from the Southern College of Optometry and Memphis VA Medical Center, and presented at the 2025 American Academy of Optometry annual meeting in Boston, Massachusetts. He noted that about 5.5 million patients worldwide are affected and these patients may be first seen by an optometrist.

Following history-taking, in his practice, multimodal imaging is the next step performed to determine the phenotype in individual patients. It is especially important to determine the impact of the disease on the retinal pigment epithelium; the retinal patterns seen on multimodal images will help narrow down the affected gene.

Because optometrists managing patients with IRDs are dealing with the functional impact of a disease on these patients, a genotype that is dysfunctional may indicate more than an ocular issue, so the systemic health of a patient is also an important consideration, Dr. Rixon emphasized.

A case-based approach

Julie Rodman, OD, MS, FAAO, from Nova University College of Optometry, Fort Lauderdale and Davie, Florida, was a participant in a discussion of the epidemiology and pathophysiology of and new treatments for diabetic eye disease and the role of the optometrist in caring for this patient population.

She described a number of real-world case studies with the goal of highlighting the different technologies used to manage these patients. Her focus was on patient management, better patient management, the appropriate time for referral, and management guidelines for these patients.

“It is noteworthy that diabetes is not an isolated disease; the patients generally have a cohort of disorders such as high blood pressure and high cholesterol, that makes management more challenging,” Rodman said.

Socio-economics plays a role when managing these patients, in that those presenting with end-stage disease generally are from disadvantaged communities with less access to resources.

Raman Bhakhri, OD, FAAO, from the Illinois College of Optometry in Chicago, Illinois, discussed the uniqueness of various cases that may present with symptoms commonly seen in an ophthalmic practice, such as flashes and floaters, which cause clinicians to think of retinal detachment and posterior vitreous detachment.

However, he urged clinicians to keep in mind that other rare cases can present. Clinicians may see cases, he explained, that are not as clear-cut as they were taught and that had additional neurologic findings or a rash, for example.

The reality is that these signs may be the manifestations of a disease that is not commonly seen. The question then is: Is this just coincidence or is it part of a missing diagnosis or disease. Bhakhri urged doctors to question subleties because they might be the key to a correct diagnosis.