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Phenotype Phebruary Day 28 - Disabilities: Severe Visual Impairment and Blindness

Hello everyone.

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.

Clinical description

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.

Visual Acuity Conversion Table

Concept Sets

The WHO definition for visual impairment, and ICD-10 diagnosis codes are commonly used in research studies.

WHO Codes

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.

ICD-10-CM Codes

* [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)
ICD-10-CM Codes:

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’

Next Steps
Build cohort definitions in Atlas
Use CohortDiagnostics to evaluate cohorts
Summarize findings

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.

2 Likes

Thank you @ClaudiaP - this a very important work.

Looking at the concept prevalence study results, data partners in the OHDSI network observe the use of the ICD10CM codes you mentioned

with most being

But, i think it would be useful if you describe what would be considered the start date of the phenotype. Since this is a development disability of the visual impairment type - would this be considered to have started from birth, or would it be something that would start at a certain point in the future for the child. If certain point in the future, till what maximum age would you allow for the person to be considered to start the phenotype (is it 15 years as used by the WHO estimates?). Is it possible that some would start at birth, and others at various ages after depending on the reason that caused the disability.

You have outlined certain type of testing and management that are expected to occur among persons with blindness. We can check if we observe those in our data (i.e. covariates in characterization report shown in Cohort Diagnostics) . This might also help us as we work on the cohort definition

You are obviously welcome to use office hours of the OHDSI Phenotype Development and Evaluation to help you develop the cohort definitions in Atlas. We can also help you find data partners who might be able to run the cohort diagnostics on their data.

@ClaudiaP thank you so much for having the courage to join the journey and raise your hand to volunteer and lead a Phenotype Phebruary discussion. What a nice way to ‘officially’ round out our community event!

You’ve provided a lot of chew on, some of which I’d comment on here, but I’ll start with my gut intuition: if blindness is not always coded, but a wide array of diseases/complications underlying or causing the blindness are coded, then this might be an excellent candidate for probabilistic phenotyping, because it could be a complex model to capture the events around visual disturbance and may be difficult to model in a rule-based heuristic, but an APHRODITE-style approach may provide some insights. I’d defer to @Juan_Banda on this idea though, since he’s our resident community expert on probabilistic phenotyping.

In the meantime, you have provided a clear set of source codes recommended by WHO, CMS and the literature, so it can be straightforward for us to translate those into an OHDSI standardized conceptset, and embed that into a phenotype definition. I took a quick stab at it just so that I could learn more about how these codes map up into the OHDSI vocabularies, because I was quite curious having not done any research in this space before.

Following the same process that we’ve outlined in prior Phenotype Phebruary posts, I copied your code list directly into ATLAS and came up with the following conceptset:

This definition (‘Blindness AND/OR vision impairment level’ and ‘Severe/moderate monocular/binocular vision impairment’ + descendants, excluding ‘Transient vision loss’, ‘Night blindness’, ‘Cortical blindness’, and ‘Amaurosis’) yields back the nearly full set of ICD10 and ICD10CM codes that you’ve listed:

ICD10:

ICD10CM:

One interesting curiosity I noted when reviewing this, some of the ICD10 and ICD10CM codes that are the same number have different labels and map to different places. for example: H54.2 actually has a different label in ICD10 and ICD10CM. ICD10 is ‘Moderate vision impairment, binocular’ and maps to SNOMED concept of ‘Moderate binocular visual impairment’, while ICD10CM is ‘Low vision, both eyes’ and maps to SNOMED concept of ‘Low vision, both eyes’. And while these terms are approximately synonymous, they aren’t necessarily identical and they don’t map the same SNOMED concept, it is super easy to imagine how one could identify one or the other but not both depending on their search strategy.

The one mapping that seems problematic is ICD10 H54.3, which maps to ‘Finding of vision of eye’, which is too broad, and likely should improved to map to the ICD10CM H54.3 location of ’ ’ (@mik , this could be logged as item for vocab team to evaluate and improve). The good news though is ConceptPrevalence tells us H54.3 is rarely used, much less over then the rest of the H54 series, so we’re not impacting our sensitivity too much by omitting this code.

Note also that our standard conceptset brings in ICD10 H54.7 ‘Unspecified vision loss’ because it maps directly to SNOMED ‘Blindness and/or vision impairment level’. This code does occur frequently, so determining if we want to conclude this high-level parent concept is an important decision (and could be evaluated in CohortDiagnostics). I’m keeping it in here for now, since it is included in the ICD10CM-based definition you shared, though the literature-based definitions did not include this code.

Note, the ICD10 list from WHO is broadly encompassing, but it appears that the ICD10CM codes used by CMS and Kolli et al specifically exclude the H54.4*-H54.7*, so reconciling these difference would be an important consideration. This difference comes down to ‘both eyes’ vs. ‘one eye’, I’d be curious to hear thoughts from the community about how you’d all expect to decide on that (presumably driven by the clinical description that should guide us).

My conceptset is posted on ATLAS-phenotype, just to help stimulate further discussion.

1 Like

+1 for somehow getting the ICF incorporated into OHDSI. I’m happy to lend my clinical expertise if someone more OHDSI-savvy than I am could help.

I apologize in advance if this is a dumb question - why was this concept excluded? Your other exclusions make sense to me if the goal is to exclude temporary / context-specific causes of loss of vision / blindness. Cerebral/cortical visual impairment is the currently preferred clinical term (although, if we split hairs, cortical is more specific), which @ClaudiaP included in the clinical description.

:heart_eyes: music to my ears as a rehab medicine physician working with children with disabilities. Truly identifying these patients seemingly always results in a large portion of manual chart review. Thank you @Patrick_Ryan for sharing your wisdom. Time for me to learn more about APHRODITE!

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