Low vision referral critical with choroideremia
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WASHINGTON – Appropriate interprofessional referrals are crucial for patients diagnosed with choroideremia, which currently has no treatment, according to a presenter here at Optometry’s Meeting.
Justin P. Kozloski, OD, a low vision rehabilitation resident from the San Antonio Lighthouse for the Blind, shared a case report from his poster during a live presentation here.
A 46-year-old Hispanic male had been previously diagnosed with choroideremia in his late 30s and was told nothing could be done, Kozloski told attendees.
The patient had major depressive disorder and suffered from post-traumatic stress disorder, according to the poster abstract. Best corrected visual acuity was 20/200-2 OD and 20/400-1 OS. The abstract described contrast sensitivity loss as profound in the right eye and severe in the left. Visual field testing revealed tunnel vision of less than 10 degrees from the point of fixation in all meridians.
Kozloski stated that the patient had smoked a pack of cigarettes a day for 30 years, and most of his medications addressed his anxiety and depressive disorders.
“The patient lived in a rough neighborhood and had been mugged due to his obvious disability,” he said. “He didn’t want anyone to know he had a visual disability. He wanted to wear a hat and sunglasses, and he shuffled as he walked.”
All low vision rehabilitation comes down to the patient’s goals, Kozloski said.
“In our discussion, the first thing I brought up with him was confidence walking from one place to the other,” he said. “Did you get stressed out getting here today? Reading mail? Performing activities of daily living? These were all priorities of his. He’s been having trouble with color, with matching his clothes.”
Kozloski noted that many low vision patients do not get a proper refraction.
“I do arc perimetry to assess what kind of Humphrey field I should do,” he said. “It’s very random as far as what some of them appreciate regarding improving the function of their life.”
Kozloski said that choroideremia occurs as a result of a single point mutation change.
“This can be diagnosed through genetic testing,” he said.
It affects males more than females, but females are carriers, he added. Initial complications include retinal schisis and macular edema.
Depression in these patients can be expected to fluctuate over time, Kozloski said.
“Even if a patient seems to be doing well on one of your exams, ask again,” he said. “Anxiety ramps up through the working years, especially in males when they’re expected to be the moneymaker in the household.”
Know the orientation and mobility specialists in your area, Kozloski said.
“Not all occupational therapists have this subspecialty,” he noted. “Each state has a workforce commission, sometimes called vocation or task force. It’s a government-funded group that helps anyone who wants to work or get education, providing them the support.”
If you cannot personally help a patient with this diagnosis, know who to refer to and keep the list handy.
“Have that information at arm’s reach,” Kozloski said. “I’d like that to be in your exam room or somewhere that you can easily get to it. The more prompt you can be with that referral document, the more they’ll perceive that it is really important that they get to this next appointment. The low vision demographic is commonly lost to follow-up.” – by Nancy Hemphill, ELS
Reference:
Kozloski JP. Low vision rehabilitation and management of choroideremia. Presented at: Optometry’s Meeting; Washington; June 21-25, 2017.
Disclosure: Kozloski reported no relevant financial disclosures.