=Paper= {{Paper |id=Vol-1327/11 |storemode=property |title=The Ontological Treatment of Sight and Blindness |pdfUrl=https://ceur-ws.org/Vol-1327/icbo2014_paper_43.pdf |volume=Vol-1327 |dblpUrl=https://dblp.org/rec/conf/icbo/RayCJD14 }} ==The Ontological Treatment of Sight and Blindness== https://ceur-ws.org/Vol-1327/icbo2014_paper_43.pdf
                                                     ICBO 2014 Proceedings


    The Ontological Treatment of Sight and Blindness

                  Patrick L. Ray*, Alexander P. Cox, Mark Jensen, Travis Allen, and Alexander D. Diehl
                                             The State University of New York at Buffalo
                                                          Buffalo, NY, USA
                                                         *
                                                           plray@buffalo.edu


    Abstract—There have been relatively few attempts to                           II. REPRESENTING BLINDNESS ONTOLOGICALLY
represent sight or blindness ontologically. This is unsurprising as
the related phenomena of sight and blindness are surprisingly              A. Seeing and Sight
difficult to represent ontologically for a variety of reasons. This            Seeing is a relational process in Basic Formal Ontology
paper discusses those reasons, explores the current attempts to            (BFO). The process is a relation between an agent who detects
represent sight or blindness, and how these attempts fail at               and processes stimuli from the environment (external to the
representing certain types of blindness, viz., color blindness and
                                                                           agent herself) and the stimulus itself. The process of seeing is
flash blindness. We then explore a possible solution to
representing sight and blindness ontologically. The solution
                                                                           representational insofar as the agent represents the stimulus in
capitalizes on the resources afforded to one who adopts the                some manner (we will leave the nature of this representation to
upper-level Basic Formal Ontology. Roughly, we characterize                further examination). The diminishment or cessation of this
sight as a function and blindness as a reduction in the conditions         relational process is often characterized as loss of vision or
under which the sight function is realized.                                blindness. The main subject of this paper will be an
                                                                           examination of the loss of vision (seeing) in formal ontology.
    Keywords—ontology; sight; blindness; function; disposition;
                                                                               Currently there are very few ontologies that seek to
color blindness; flash blindness; Basic Formal Ontology.
                                                                           represent blindness. The reasons for this are as follows: first, it
                       I. INTRODUCTION                                     is rather difficult to characterize an entity via a lack or absence,
                                                                           which seems to be the case with blindness (the lack of sight)
    In its most basic form, blindness is the impairment of visual          [2]. Metaphysically speaking, it is unclear whether a lack is
function below a certain threshold. Where this threshold lies              ontologically significant. Taking the paradigm case of
varies depending on context. The World Health Organization                 ontological absence involving material entities, a hole, there
characterizes blindness as visual acuity of less than 20/500 or a          does not even seem to be anything to which one can attribute
visual field of less than 10 degrees [1]. In the United Kingdom,           characteristics at all. This seems to indicate at least a prima
the Certificate of Visual Impairment characterizes blindness as            facie problem with characterizing entities via lacks; if one is
visual acuity of less than 20/400 [1]. In the United States, the           defined by a lack, then there are all sorts of things that seem to
American Medical Association characterizes blindness as                    count at least when it is both a necessary and sufficient
visual acuity of less than 20/200 or a visual field of less than 20        condition. Although a strategy for representing a lack of a part
degrees [1]. This indicates that the standards of blindness vary           in the context of anatomy has emerged, it is contentious
across international borders. Furthermore, there are the recent            whether such a strategy will translate well for functions
calls by the International Council of Ophthalmology to define              (dispositions) as the latter are not material entities [3].
blindness and visual impairment according to their own
standards, at least part of which involve visual substitution                   Second, blindness does not seem to yield a precise
skills employed by persons [1]. Moreover, visual acuity only               definition or even clearly differentiated conditions under which
represents one dimension of blindness. There are other types of            it is present or absent. Many cases of blindness are progressive
visual impairments that fall beyond the scope of visual acuity –           and it will be exceedingly difficult to determine at which point
such as the ability or inability to differentiate color. Blindness         blindness has come into existence. Many cases present in
then has many types and presents in degrees.                               degrees, which is common with the degeneration of the eye or
                                                                           apparatuses associated with vision. In addition to these
    There are two obvious problems with representing and                   complications, there is controversy over the threshold for
defining blindness and visual loss. First, different groups use            blindness. It is common for publications regarding blindness to
different standards of measurement. Second, different                      specify which definition of ‘blindness’ they employ [1].
standards of classification can be used while adopting a single
standard of measurement. The primary difficulty arising from                    Even with these complications regarding blindness, we feel
these problems is that it is exceedingly difficult to gather and           it is useful to give a univocal account of the phenomenon for
compare data on blindness and vision related disorders. In                 purposes of ontological development. Such an account should
addition, there are more complex problems that arise in                    capture all or a vast majority of the cases of blindness and the
representing blindness in formal ontology. This paper explores             various classifications of blindness found in the literature.
the difficulties that arise in representing blindness ontologically        Thus, it should remain general and flexible enough to capture a
and proposes a novel solution to these problems.                           wide range of characterizations yet it should also be rigid
                                                                           enough as to remain informative and insightful.



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    There are many types of blindness. It is also the case that                sensitive or both). We favor the view that the term ‘blindness’
blindness can be defined relative to a context. For example,                   denotes a single phenomenon reflecting severe visual
there is color blindness and change blindness, which both seem                 impairment relative to a particular context of evaluation. Thus,
to be types of blindness themselves. An individual might be                    ‘blindness’ denotes an ontologically well-formed category.
legally blind but still be able to detect some light stimulus – or
                                                                                   Attempts to characterize blindness using current ontologies
one might be blind enough to be prohibited from flying a jet
aircraft but not blind enough to be prohibited from driving. In                yields the results listed in table 1.
this way, we might say that someone is ‘blind according to [x]’                B. Some Preliminary Distinctions
where [x] is some standard of evaluation for sightedness. In                       According to the framework we have adopted, functions
this sense it can be said that blindness comes in degrees. The                 are a type of disposition. Functions are realizable entities that
extent to which someone has a lack of sight or cannot see will                 are realized in processes (what are sometimes called
be graded. If we think of seeing or sight as a relational process              ‘functionings’). Because functions are non-accidental, all of the
between an agent who is representing and the thing represented                 functions a given entity possesses are intimately tied to the type
and the accuracy of such representations ranging from 1                        of entity under examination, whether the entity is biological or
(complete representational veracity) and 0 (no representational                artifactual. Functions are internally-grounded realizable entities
veracity), blindness will be somewhere on the continuum from                   so changing the physical structure of its bearer may alter the
0 to 1 – the closer to 0 one's representation of stimulus, the                 realization of the function in question; and if the function
more blind that individual is. Given the above considerations,                 ceases to exist, the bearer must be changed physically [5].
one might draw the conclusion that there does not seem to be
an ontological category that corresponds to what blindness is as                   We think that sight is a BFO function of visual systems (or
an entity – blindness could be an amalgam of loosely related                   at least visual systems of creatures with higher-order cognitive
entities or something that is not itself ontologically well                    functions). One of the reasons we have for maintaining this
formed. While this conclusion is tempting, we do not find it to                proposition is that sight appears to be a result of an
be satisfactory.                                                               evolutionary process and the various mechanisms of sight for
                                                                               biological organisms straightforwardly seem the product of
    Lending to the confusion surrounding the status of                         evolution. For non-biological entities possessing sight, if any,
blindness (and sight) is the method used for assessing visual                  the sight that they possess is not accidental, but rather a product
acuity. Typically, visual acuity is expressed as a relationship                of design or intention on the part of the creator. This is
between two values – the distance a subject stands from an                     consistent with with the non-accidental nature of functions.
optical chart, and distance at which a normal subject would
stand from the chart to discern the same visual detail. Putting                    Another reason to think that sight is a function is that it is
aside the problems associated with this particular type of visual              realized by processes grounded in a material entity. This is a
acuity assessment, we have discussed above how this can lead                   hallmark of a function as described above. Furthermore,
to confusion regarding what conditions are indicative of                       another reason that sight is a function lies in the fact that if
blindness [4].                                                                 sight ceases to exist, then the bearer is physically changed.
                                                                               Although the entities still have the sight function, it is that they
   It is useful for clinicians and researchers to have a coherent              cannot realize that function due to some change in their
theory of blindness that encompasses the range of conditions                   physical constitution. Thus, there are many good reasons to
commonly understood to be forms of blindness. We                               support the assertion that sight is a function.
simultaneously realize that blindness seems to be characterized
as relative or context-sensitive (the term itself might be                          TABLE I.          CURRENT ATTEMPTS TO CHARACTERIZE BLINDNESS
context-sensitive or the phenomenon might be context-
 Ontology              Term                          Definition                                                                              Parent Class
                                                     The series of events required for an organism to receive a visual stimulus, convert     Sensory
 Gene Ontology (GO)    Visual perception             it to a molecular signal, and recognize and characterize the signal. Visual stimuli     perception of
                                                     are detected in the form of photons and are processed to form an image.                 light stimulus
                                                     The series of events in which a visible light stimulus is received by a cell and
                                                     converted into a molecular signal. A visible light stimulus is electromagnetic
                                                                                                                                             Detection of
 GO                    Detection of visible light    radiation that can be perceived visually by an organism; for organisms lacking a
                                                                                                                                             light stimulus
                                                     visual system, this can be defined as light with a wavelength within the range 380
                                                     to 780 nm.
                       Detection of light stimulus
                                                     The series of events involved in visual perception in which a light stimulus is         Visual
 GO                    involved in visual
                                                     received and converted into a molecular signal.                                         perception
                       perception
                       Determination of sensory      The determination of the type or quality of a sensation. Sensory modalities             Sensory
 GO
                       modality                      include touch, thermal sensation, visual sensation, auditory sensation and pain.        processing
 Mammalian                                                                                                                                   Abnormal
                       Blindness                     Loss of the sense of sight.
 Phenotype (MP)                                                                                                                              vision
                                                                                                                                             Abnormal eye
 MP                    Abnormal vision               Inability or decreased ability to see.
                                                                                                                                             physiology
                                                                                                                                             Abnormal
 MP                    Decreased visual acuity       Loss of visual acuity or ability to distinguish small details
                                                                                                                                             visual acuity
 Human Disease
                       Blindness                     N/A                                                                                     Retinal disease
 Ontology (DO)
                       Color blindness               A blindness that is characterized by the inability or decreased ability to see color,
 DO                                                                                                                                          Blindness
                                                     or perceive color differences, under normal lighting conditions.
 Human Phenotype                                     Blindness is the condition of lacking visual perception due to physiological or         Visual
                       Blindness
 (HP)                                                neurological factors.                                                                   Impairment

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    Proceeding with the proposition that sight is a function, we           within a few minutes. There are some extreme cases, however,
can characterize the specific type of function it is by                    where flash blindness will result in permanent vision loss [11].
identifying its defining features. Employing such a strategy, we
characterize sight as the function to receive photons and                  C. Current Solutions
interpret them as visual information. Relatedly, we can                        Given the above discussion, it seems that there should exist
characterize seeing as the process by which photons are                    the resources to represent blindness. One of the most likely
interpreted as visual information. Having given an account of              candidate solutions involves using the Human Disease
sight as the realization of a function, it is then natural to              Ontology (DO). DO currently does not provide a definition of
identify the process by which the sight function is realized as            blindness but one plausible candidate posited on their behalf
vision.                                                                    would follow their characterization of color blindness as an
                                                                           inability or decreased ability to detect light stimulus. Color
    An additional feature of functions (dispositions) and their            blindness in DO is defined as: “a blindness that is characterized
functionings (realization processes) is that they are associated           by the inability or decreased ability to see color, or perceive
with certain triggering processes under which they are realized.           color differences, under normal lighting conditions.” [12]
The nature of this association is currently the subject of                 Moving from this definition of a specific type of blindness to
discussion in BFO but this much is clear: the relationship                 blindness generally should produce the result that blindness is
between the realization of a disposition and the disposition               “the inability or decreased ability to see or perceive, under
itself is mediated by the trigger, and the triggering process is           normal lighting conditions.”
connected to the realization process (perhaps causally) such
that the presence of the trigger and the disposition lead to the               While an attractive view in general and one to which we are
realization of the disposition. For example, a sample of salt has          mostly sympathetic, such a definition of blindness will not
a disposition to dissolve when placed in water. The realization            stand up to careful examination. In the first place, DO
process would be the physical mechanism of the dissolving                  categorizes blindness as a disease. Blindness is not a disease.
process while the triggering process (or trigger) is the salt and          Moreover, it is not a type of retinal disease as DO currently
water being together such that the process can manifest the                characterizes it. Blindness may result from many diseases and
disposition to dissolve. Although there are few attempts to                many diseases will complicate blindness and the sightedness of
formalize such entities as triggers, they are a commitment of              individuals, but is not itself a disease. But it may also be the
BFO [6].                                                                   case that blindness does not result from a disease but rather a
                                                                           single event, as is the case with flash blindness. It is also not
                III. TWO INTERESTING CASES                                 the case that blindness is limited to problems in the retina.
    The reasons for thinking that sight is a function realized by          Cortical blindness is a type of blindness that does not involve
a vision process in higher-order animals detailed in the last              any malfunction with the retina. Even some specific types of
section provide our initial motivation. This section details two           blindness are not limited to just one mechanism of realization
cases of blindness or types of blindness according to this                 in one location, as detailed in the last section.
account of sight.                                                               These rather easily remedied problems notwithstanding, the
A. Color Blindness                                                         more pressing concern is that there does not seem to be any
                                                                           indication of what an inability or decreased ability would be.
    Color blindness is a condition wherein an individual has an            The concern is plain – abilities cannot lack according to BFO.
inability to distinguish between two or more colors. In some               If abilities are dispositions or functions, then they are realizable
cases the two wavelengths of light are represented or                      entities. Realizable entities cannot present in degrees, as their
interpreted as the same when they are distinct. In other cases,            existence is an all-or-nothing affair. If blindness is an inability
an individual cannot report a difference between two or more               to detect light, then all cases of blindness will be a complete
wavelengths of photons [7]. The inability to distinguish                   inability to detect light stimulus, which fails to capture the
between two or more types of light is not limited to just one              cases of blindness that are not the complete inability to detect
cone type [8]. Complicating this picture somewhat is that there            light stimulus. If blindness is a decreased ability to detect light,
are many mechanisms identified as causes of color blindness                then it cannot be represented as a decreased function or
and that these mechanisms are not localized to one anatomical              disposition in BFO. But, since sight is a function, and blindness
region. Some color blindness is due to an individual lacking               is the lack of sight, we are left to wonder whether an account of
cone cells or a certain type of cone cell. Other times the cause           blindness can be given as an inability. We believe that this type
is cortical [9]. Thus, color blindness is similar to other types of        of account is confused.
blindness in that the causes and mechanisms associated with it
are diverse and complex.                                                       Another route for capturing blindness is to maintain that
                                                                           blindness is a disorder, where a disorder is “[a] material entity
B. Flash Blindness                                                         that is clinically abnormal and part of an extended organism.”
    Flash blindness is a type of blindness that results from               [13] The problem with this approach is that it is unclear that
exposure to sudden-onset bright light. The sudden light will               blindness, as a phenomenon, is a material entity. If one thinks
oversaturate the photopigments of the retina and the individual            that blindness is the absence of the sight function, then it does
will be unable to convert photons to a neural signal due to this           not seem that blindness is a material entity (material entities are
oversaturation [10]. Flash blindness is commonly temporary                 not absences of functions). Further, one cannot point to a
blindness, where the subject regains their full ability to see             material entity and identify it as blindness as blindness is not
                                                                           spatially extended; but spatial extension is a hallmark of




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material entities. For these reasons, blindness cannot be a              triggers and dispositions in formal ontology. This discussion is
disorder.                                                                a step toward providing an account of causality in BFO.
D. Proposed Solution                                                         The motivation of this project is to provide a simple yet
     Drawing on the lessons from the previous sections we                flexible ontological account of blindness. Since blindness is the
propose a solution to the problem that blindness poses for               result of many ocular diseases, the construction of ontologies
ontology development. Because sight is a function and                    that incorporate both blindness and the diseases that result in
blindness is seemingly the non-realization of the function that          blindness, either directly or indirectly, is of importance to the
is sight, we set forth an account of blindness where blindness is        biomedical community. But this is not a purely classificatory
a reduction of the conditions under which the disposition that is        exercise – the employment of the conditions under which a
the sight function is realized. To put it another way, the range         disposition is realized (in this case a function) is a novel
of the triggering processes is narrowed such that the sight              application of a tool that has been available for ontological
function is realized under a narrower range of conditions.               developers for some time. It is the opinion of these authors that
                                                                         this type of usage could yield further fruitful results.
     This solution is able to deal with the cases outlined above.
For color blindness, we would say that color blindness is a                                      ACKNOWLEDGMENTS
reduction in the (color) conditions under which a vision                    The authors would like to thank William Duncan and Isaac
function is realized. Although different types of color blindness        Berger for their insights in commenting on this manuscript. We
will involve different types of reduction of conditions, they            would also like to thank three anonymous reviewers for helpful
will be unified into a single phenomenon by the fact that they           comments.
all involve the reduction of the light wavelengths that result in
differentiated visual representation. For flash blindness, we say                                     REFERENCES
that there is a temporary (or possibly permanent) reduction on           [1]  August Colenbrander, “Visual Standards, Aspects and Ranges of Vision
the conditions under which the vision function is realized –                  Loss with Emphasis on Population Surveys.” Report prepared for the
whatever the mechanism realizing the function of sightedness                  International Council of Ophthalmology at the 29th International
may be. Because the function is realized by a rather                          Congress of Ophthalmology, Sydney, Australia, April 2002.
complicated functioning in both cases, the type of blindness             [2] David Lewis & Stephanie Lewis, “Holes,” Australasian Journal of
can range over different types of failure in functioning so long              Philosophy, 1970, 48:2, 206-212.
as the reduction of conditions is similar. One could also                [3] Robert Hoehndorf, Anika Oellrich, Michel Dumontier, Janet Kelso,
                                                                              Dietrich Rebholz-Schuhmann, Heinrich Herre, “Relations as Patterns:
classify types of blindness by the types of failure in sight                  Bridging the gap between OBO and OWL.” BMC Bioinformatics 2010,
functionings, if one so chose.                                                11:441
                                                                         [4] Hans Strasburger, Ingo Rentschler, Martin Juttner, “Peripheral Vision
                       IV. DISCUSSION                                         and Pattern Recognition: A Review.” Journal of Vision. December 28,
    With the problems associated given the above                              2011. 11(5):13, 1-82.
classifications of blindness we propose a new definition of              [5] Robert Arp, Barry Smith, “Function, Role, and Disposition in Basic
                                                                              Formal Ontology,” Nature Precedings : 2 Jun 2008.
blindness that acknowledges the problems encountered with
previous definitions and seeks to capture the nature of the              [6] Johannes Rohl and Ludger Jansen “Representing Dispositions.” Journal
                                                                              of Biomedical Semantics. 2011, 2(Suppl 4):S4.
phenomenon of blindness identified earlier. If blindness admits
                                                                         [7] Bevil R. Conway, Soumya Chatterjee, Greg D. Field, Gregory D.
of degrees, then it seems that blindness cannot be a function or              Horwitz, Elizabeth N. Johnson, Kowa Koida, Katherine Mancuso,
disposition. It also seems that blindness cannot be a lack of a               “Advances in Color Science: From Retina to Behavior.” The Journal of
disposition or function because many things lack the function                 Neuroscience. November 10, 2010 • 30(45):14955–14963.
yet should not be classified as blind. One of the options                [8] George Wald, “The Receptors of Human Color Vision,” Science, New
available for defining blindness is to say that sight is the                  Series, Vol. 145, No. 3636 (Sep. 4, 1964), pp. 1007-1016.
function to receive photons and interpret them as visual                 [9] S. Kohl, T. Marx, I. Giddings, et al. (1998). "Total Colourblindness is
information and then proceed to define blindness as a reduction               Caused by Mutations in the Gene Encoding the Alpha-Subunit of the
                                                                              Cone Photoreceptor cGMP-gated Cation Channel." Nature Genetics 19
of the conditions under which the disposition is realized                     (3): 257–9.
(trigger conditions).                                                    [10] John Lott Brown, “Experimental Invesigations of Flash Blindness.”
    This view has certain advantages. First, it accounts for the              Human Factors: The Journal of the Human Factors and Ergonomics
                                                                              Society. 1964 6: 503.
graded nature of blindness. The slow and sometimes gradual
                                                                         [11] Ruth W. Shnider, “Compilation of Nuclear Test Flash Blindness &
onset of blindness raises special problems for ontology                       Retinal Burn Data and Analytic Expressions for Calculating Safe
construction as it admits of degrees and seemingly vague                      Separation Distances,” Defense Atomic Support Agency Document,
boundaries. Second, it classifies sight as an internally-grounded             April 1971.
realizable entity, which makes use of the framework provided             [12] Lynn Marie Schriml, Cesar Arze, Suvarna Nadendla, Yu-Wei Wayne
by an upper-level ontology such as BFO. Third, it is                          Chang, Mark Mazaitis, Victor Felix, Gang Feng, Warren Alden Kibbe,
ontologically innocent in that there are no new entities to                   “Disease Ontology: a backbone for disease semantic integration.”
                                                                              Nucleic Acids Research. 2012, Vol. 40. D940-D946.
countenance in any upper-level ontology. The entities that are
referenced in the theory we advocate are already present in              [13] Richard Scheuermann, Werner Ceusters, Barry Smith, “Toward an
                                                                              Ontological Treatment of Disease and Diagnosis.” In AMIA Summit on
BFO and so there is no need to introduce new entities. Fourth,                Translational Bioinformatics, 2009, 116-120.
such a treatment of blindness lends credence to discussions of




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