The MRDQ and MVAQ, which are effective for adult patients with inherited retinal diseases, have been validated in adolescents with inherited retinal diseases.
“Tests that assess visual acuity and peripheral vision are, generally, the two types of vision tests done in a clinician’s office,” explains K. Thiran Jayasundera, MD, MS. “Generally, we don’t ask about how visual impairments interfere with day-to-day functioning. But inherited retinal diseases (IRDs) affect different forms of functional vision. Some may affect color vision; some may affect contrast sensitivity.”
Two newer sets of IRD-specific tools, the Michigan Retinal Degeneration Questionnaire (MRDQ) and the Michigan Vision-Related Anxiety Questionnaire (MVAQ), are patient-reported outcome measures (PROMs) specifically indicated for adults. “However, many IRDs manifest in childhood and, therefore, [are] most amenable to gene therapy treatment also in childhood,” Dr. Jayasundera and colleagues wrote. “There remains a great unmet need to develop PROMs tailored to pediatric patients with IRDs.”
For a study published in Ophthalmic Genetics, Dr. Jayasundera and colleagues aimed to validate the MRDQ and the MVAQ in adolescent patients between the ages of 13 and 18 with IRDs. The researchers administered the MRDQ, MVAQ, and the Patient Health Questionnaire-4 (PHQ-4) and reassessed test-retest variability within 14 days of the first evaluation, examining adolescent responses for validity and reliability. To further validate the tools, Dr. Jayasundera and colleagues compared their findings to adult data from the original MRDQ and MVAQ studies to confirm uniformity in response ranges.
MRDQ & MVAQ Measurements Similar in Adolescents
The analysis included 91 adolescent patients (56% male; mean age, 16). More than one-half the participants (51.6%) had a rod-cone dystrophy phenotype. Participants completed the MRDQ in an average of 13 minutes and the MVAQ in an average of 4 minutes.
“The MRDQ and MVAQ domain test-retest reliability measurements were very similar in adolescent patients compared to the previously published results in adult patients,” the study team wrote. “Verifying test-retest reliability in adolescents was an essential metric for validating functional outcome measures in the IRD populations, as it allows interpretation of change in a given functional ability over time in the setting of a clinical trial or natural history study. The test-retest variability of cents is comparable to that of adults with IRDs.”
In a multivariate analysis, Dr. Jayasundera and colleagues observed no differences between adults and adolescents when they compared domain and trait associations (Table).
“The lack of differences between adults and teenagers made us confident that these instruments work just as well in the adolescent population as they do in adults,” Dr. Jayasundera says.
New PROMs for Clinical Trials & the Exam Room
The increasing number of novel treatment options for IRDs also means that there is a critical need for specific PROMs to evaluate the impact of IRDs on the daily lives of adolescents, according to the study results.
“There is an urgent need to integrate adolescent [patient] perspectives and preferences into their care alongside measuring their vision function and structure,” the researchers wrote. “Understanding the impact of an IRD on the patient’s activities of daily living and distress using tools such as the MRDQ and MVAQ can assist eye care providers in optimizing the management of their patient’s needs and better understanding of response to any intervention.”
The immediate application for these newly validated tools is in clinical trials, Dr. Jayasundera says, where they can be used to measure the function of teenagers with IRDs.
“The next step is to implement these tools as part of everyday life in the clinic, so that physicians can understand what problems these patients are experiencing and address them in a more specific way,” he continues. “These instruments provide clinicians with a more targeted approach for prescribing management strategies such as low-vision rehabilitation.”
