I volunteer with disability groups. Many of the persons I guide during activities have become my closest friends. So, I have witnessed their struggles navigating the healthcare system. When we talk about outcomes, quality of care, and equity, we should be thinking about this special group too. But, in order to include persons with disabilities in our research projects, we need phenotypes.
As an aside, WHO approved the International Classification of Functioning, Disability and Health. Are we thinking about adding this classification?
Creating a disability phenotype is complicated. CDC defines disability as any condition of the body or mind that makes it more difficult for the person with the condition to do certain activities and interact with the world around them. Impairments might affect a person’s vision, movement, thinking, remembering, learning, communicating, hearing, mental health, and social relationships. I thought about working on developmental disabilities, instead of disabilities in general. But this does not reduce the complexity of developing this phenotype. For reference, developmental disabilities are disabilities that begin during the developmental period, and usually last throughout a person’s lifetime.
Focusing on one disability might be something that can more easily be done. So, today I am focusing on severe visual impairment and blindness in children.
Here is a comprehensive review on vision and vision impairment: The Lancet Global Health Commission on Global Eye Health: vision beyond 2020
Vision impairment occurs as a result of a disruption of the structural and physiological integrity of the eyes, brain, and/or their connections. A person who is severely visually impaired or blind is one who has impairment of visual functioning even after treatment and/or standard refractive correction. Distance visual acuity is the most common measure of visual function. In the US, the legal definition of blindness is best-corrected vision of 20/200 or worse in the better seeing eye, or visual field constriction to less than 20 degrees. On the other hand, WHO defines severe vision impairment as best corrected vision of 20/200 or worse, and blindness as best corrected vision of 20/400 or worse in the better seeing eye.
The leading causes of blindness in children include cataract, retinopathy of prematurity, congenital ocular anomalies, corneal scarring, and cerebral visual impairment. Infectious diseases such as trachoma, toxoplasmosis, onchocerciasis can result in vision impairment. Vision impairment in young children can lead to psychomotor and cognitive developmental delay. Children with vision impairment have poorer educational outcomes, and are more likely to be excluded from schools. However, they can benefit from the provision of assistive technology, such as screen reading software and electronic braille displays. Compensatory skills such as orientation and mobility using a white cane allows the visually impaired child to confidently move in urban and other spaces. WHO estimated that 1·02 million children (aged 0–15 years) worldwide were blind in 2020, excluding those with refractive errors.
As mentioned above, the most common measurement of visual function is visual acuity. Measurement of visual acuity helps determine the ability of a person to distinguish letters or symbols at a standard distance. Measurement of visual acuity is performed using specialized eye charts. The Snellen chart is the current standard for measurement of visual acuity. The chart has letters of different sizes arranged from largest at the top to smallest at the bottom, which are read, one eye at a time, at a distance of 20 feet (6 meters). The Early Treatment Diabetic Retinopathy Study (ETDRS) charts are also commonly used, and are reported to provide a better quantification of vision, and more reliable measures of vision change than the Snellen chart. However, the large size of the of the ETDRS charts, the unfamiliarity with the testing and scoring protocol, the time it takes to perform, and the number of letters on the chart have limited its widespread use. The logarithmic form of the minimum angle of resolution (logMAR) is commonly used to express visual acuity; as well as the decimal form, which is the numeric value of the Snellen fraction. The conversion table below is useful when trying to understand these differences.
H54.0 Blindness, binocular Visual impairment categories 3, 4, 5 H54.1 Severe visual impairment, binocular Visual impairment category 2. H54.2 Moderate visual impairment, binocular Visual impairment category 1 H54.3 Mild or no visual impairment, binocular Visual impairment category 0. H54.4 Blindness, monocular Visual impairment categories 3, 4, 5 in one eye and categories 0, 1, 2 or 9 in the other eye. H54.5 Severe visual impairment, monocular Visual impairment category 2 in one eye and categories 0, 1 or 9 in other eye. H54.6 Moderate visual impairment, monocular Visual impairment category 1 in one eye and categories 0 or 9 in other eye.
* [H54](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54) Blindness and low vision * [H54.0](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.0) Blindness, both eyes * [H54.0X](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.0X) Blindness, both eyes, different category levels * [H54.0X3](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.0X3) Blindness right eye, category 3 * [H54.0X33](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.0X33) Blindness right eye category 3, blindness left eye category 3 * [H54.0X34](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.0X34) Blindness right eye category 3, blindness left eye category 4 * [H54.0X35](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.0X35) Blindness right eye category 3, blindness left eye category 5 * [H54.0X4](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.0X4) Blindness right eye, category 4 * [H54.0X43](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.0X43) Blindness right eye category 4, blindness left eye category 3 * [H54.0X44](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.0X44) Blindness right eye category 4, blindness left eye category 4 * [H54.0X45](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.0X45) Blindness right eye category 4, blindness left eye category 5 * [H54.0X5](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.0X5) Blindness right eye, category 5 * [H54.0X53](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.0X53) Blindness right eye category 5, blindness left eye category 3 * [H54.0X54](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.0X54) Blindness right eye category 5, blindness left eye category 4 * [H54.0X55](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.0X55) Blindness right eye category 5, blindness left eye category 5 * [H54.1](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.1) Blindness, one eye, low vision other eye * [H54.10](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.10) …… unspecified eyes * [H54.11](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.11) Blindness, right eye, low vision left eye * [H54.113](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.113) Blindness right eye category 3, low vision left eye * [H54.1131](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.1131) …… category 1 * [H54.1132](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.1132) …… category 2 * [H54.114](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.114) Blindness right eye category 4, low vision left eye * [H54.1141](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.1141) …… category 1 * [H54.1142](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.1142) …… category 2 * [H54.115](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.115) Blindness right eye category 5, low vision left eye * [H54.1151](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.1151) …… category 1 * [H54.1152](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.1152) …… category 2 * [H54.12](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.12) Blindness, left eye, low vision right eye * [H54.121](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.121) Low vision right eye category 1, blindness left eye * [H54.1213](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.1213) …… category 3 * [H54.1214](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.1214) …… category 4 * [H54.1215](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.1215) …… category 5 * [H54.122](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.122) Low vision right eye category 2, blindness left eye * [H54.1223](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.1223) …… category 3 * [H54.1224](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.1224) …… category 4 * [H54.1225](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.1225) …… category 5 * [H54.2](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.2) Low vision, both eyes * [H54.2X](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.2X) Low vision, both eyes, different category levels * [H54.2X1](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.2X1) Low vision, right eye, category 1 * [H54.2X11](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.2X11) Low vision right eye category 1, low vision left eye category 1 * [H54.2X12](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.2X12) Low vision right eye category 1, low vision left eye category 2 * [H54.2X2](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.2X2) Low vision, right eye, category 2 * [H54.2X21](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.2X21) Low vision right eye category 2, low vision left eye category 1 * [H54.2X22](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.2X22) Low vision right eye category 2, low vision left eye category 2 * [H54.3](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.3) Unqualified visual loss, both eyes * [H54.4](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.4) Blindness, one eye * [H54.40](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.40) …… unspecified eye * [H54.41](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.41) Blindness, right eye, normal vision left eye * [H54.413](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.413) Blindness, right eye, category 3 * [H54.413A](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.413A) Blindness right eye category 3, normal vision left eye * [H54.414](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.414) Blindness, right eye, category 4 * [H54.414A](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.414A) Blindness right eye category 4, normal vision left eye * [H54.415](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.415) Blindness, right eye, category 5 * [H54.415A](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.415A) Blindness right eye category 5, normal vision left eye * [H54.42](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.42) Blindness, left eye, normal vision right eye * [H54.42A](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.42A) Blindness, left eye, category 3-5 * [H54.42A3](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.42A3) Blindness left eye category 3, normal vision right eye * [H54.42A4](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.42A4) Blindness left eye category 4, normal vision right eye * [H54.42A5](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.42A5) Blindness left eye category 5, normal vision right eye * [H54.5](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.5) Low vision, one eye * [H54.50](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.50) …… unspecified eye * [H54.51](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.51) Low vision, right eye, normal vision left eye * [H54.511](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.511) Low vision, right eye, category 1-2 * [H54.511A](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.511A) Low vision right eye category 1, normal vision left eye * [H54.512A](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.512A) Low vision right eye category 2, normal vision left eye * [H54.52](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.52) Low vision, left eye, normal vision right eye * [H54.52A](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.52A) Low vision, left eye, category 1-2 * [H54.52A1](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.52A1) Low vision left eye category 1, normal vision right eye * [H54.52A2](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.52A2) Low vision left eye category 2, normal vision right eye * [H54.6](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.6) Unqualified visual loss, one eye * [H54.60](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.60) …… unspecified * [H54.61](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.61) Unqualified visual loss, right eye, normal vision left eye * [H54.62](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.62) Unqualified visual loss, left eye, normal vision right eye * [H54.7](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.7) Unspecified visual loss * [H54.8](https://www.icd10data.com/ICD10CM/Codes/H00-H59/H53-H54/H54-/H54.8) Legal blindness, as defined in USA
Harris and Wright used these codes to select patients with bilateral severe visual impairment or bilateral blindness. However, they note the inclusion of “eye category 2 through 5 for either eye”. Not in the in the better seeing eye. I thought that that was interesting.
The Centers for Medicare & Medicaid Services developed algorithms to help researchers identify beneficiaries with specific chronic conditions. One of the specifications is the Sensory - Blindness and Visual Impairment:
Number/Type of Claims to Qualify: At least 1 inpatient claim OR 2 other non-drug claims of any service type with DX codes Valid ICD-10/CPT4/HCPCS Codes3: DX H54.0, H54.0X33, H54.0X34, H54.0X35, H54.0X43, H54.0X44, H54.0X45, H54.0X53, H54.0X54, H54 .0X55, H54.10, H54.11, H54.1131, H54.1132, H54.1141, H54.1142, H54.1151, H54.1152, H54.12, H54.1213, H54.1214, H54.1215, H54.1223, H54.1224, H54.1225, H54.2, H54.2X11, H54.2X12, H54.2X21, H54.2X22, H54.3, H54.8 (any DX on the claim)
Kolli et al. used the codes below to compare the incidence and hazard of neuropsychiatric, musculoskeletal, and cardiometabolic conditions among adults with and without vision impairment (VI)
Blindness and Low Vision: H54.0, H54.0X, H540.X33, H540.X34, H540.X35, H54.043, H54.0X44, H54.0X45, H54.0X53, H54.0X54, H54.0X55, H54.1, H54.10, H54.11, H541.131, H54.1132, H54.1141, H54.1142, H54.1151, H54.1152, H54.12, H54.1213, H54.1214, H54.1215, H54.1223, H54.1224, H54.1225, H54.2, H54.2X11, H54.2X12, H54.2X21, H54.2X22, H54.3, H54.8 Visual Disturbances: H53.469, H53.47
Given that the codes above seem to be used frequently to select patients who are visually impaired or blind, and given that I am looking for patients with severe visual impairment or blindness (as defined by WHO), I would like to restrict the categories to include only those patients with eye category 3 through 5 in the better seeing eye. This restricts the ICD-10-CM codes to:
‘H54.0’, ‘H54.0X33’, ‘H54.0X34’, ‘H54.0X35’, ‘H54.0X43’, ‘H54.0X44’, ‘H54.0X45’, ‘H54.0X53’, ‘H54.0X54’, ‘H54.0X55’, ‘H54.8’
Build cohort definitions in Atlas
Use CohortDiagnostics to evaluate cohorts
As I learn more, and venture more deeply into the OHDSI world, I’ll be adding more content to this post.
If this topic is of interest to you, let me know. I’m happy to collaborate.