Abstract
Purpose :
Choroideremia (CHM) is an X-linked recessive inherited retinal dystrophy (IRD) resulting in progressive vision loss, ultimately leading to blindness. Women are typically carriers, although a few studies have shown some women to be symptomatic. Our objective was to perform an epidemiologic study using electronic medical records to better understand women with diagnosis codes for CHM.
Methods :
Optum® de-identified Electronic Health Record dataset (2007-2019) was used. Women with at least one recorded ICD-9 or -10 diagnosis code for CHM (ICD-9: 363.55; ICD-10: H31.21) were included. The women’s records were examined for age at first diagnosis within the database, other IRDs, provider type, and notes/measures of vision.
Results :
Fifty-seven women had CHM ICD codes recorded while enrolled in the database. The median time in the database was 8 years, and during that time 35% of the women had more than one physician visit with a CHM code. The age at first CHM code in the database ranged in age from 6-87 years, with a median of 54 years. At the first diagnosis in the database, 63% of women were seen by an ophthalmologist and 12% were seen by an optometrist. Other provider specialties included Family Medicine (12%) and Obstetrics/Gynecology (9%). Sixteen percent of women also had an ICD code or physician note for retinitis pigmentosa. Thirty-nine percent of women had an ICD code or physician note mentioning a family history of eye genetic disease and/or blindness. Using physician notes, ICD codes, and/or reported visual acuity measurements, 13 (23%) women were categorized as having poor/low vision, severe visual impairment, and/or blindness. Among women aged 60 and older, 40% had poor/low vision, severe impairment, or blindness. Many of these women had other eye conditions (e.g., glaucoma, cataracts); therefore, it is not possible to know whether the vision loss is attributable to the other issues or CHM. Often visual acuity measurements were lacking and physician notes were not descriptive enough to understand specific vision levels among the women.
Conclusions :
A proportion of women with CHM have visual impairments. Further research on women with CHM is warranted to determine the level of visual impairment experienced by these women and if it is attributable to CHM or other eye conditions.
This is a 2021 ARVO Annual Meeting abstract.