Terms needed for Glaucoma study

[obophenotype-user]

All phenotypes under OMIM 177650 (Exfoliation Syndrome) Lens pseudoexfoliation Cataract, nuclear Abnormal lens suspensory ligament Phacodonesis Poor mydriasis Asymmetric pupil sizes Pigment deposition in the trabecular meshwork Open-angle glaucoma due to pupillary and ciliary block Asymmetry of intraocular pressure Atypical cornea guttata Iris rigidity Melanin dispersion in iris 'Moth-eaten' pattern of peripupillary atrophy Iris hypoperfusion resulting from degenerated stromal vessels Pseudouveitis due to breakdown of blood-aqueous barrier Retinal vein occlusion

Reported by: selewis

Original Ticket: obo/human-phenotype-requests/252

[obophenotype-user]

• status: unread --> closed-accepted
• assigned_to: Peter N. Robinson

Original comment by: pnrobinson

[obophenotype-user]

All phenotypes under OMIM 177650 (Exfoliation Syndrome)

Lens pseudoexfoliation => Actually, pseudoexfoliation affects multiple structures of the anterior chamber of the eye. There is no reason for a term "lens pseudoexfoliation", the lens is not even the most severeyl affected structure in most patients. Added term HP:0012627, Pseudoexfoliation, child of "Abnormality of the anterior segment of the eye" Def: Deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor., Comment: In the eye, pseudoexfoliation syndrome is characterized by the deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor. PXM can be observed in vivo during slit lamp examination. It appears as 'dandruff-like' material in the anterior chamber or most characteristically on the anterior lens capsule deposited in a double concentric ring pattern. The rings are separated by a clear zone presumably created because of the movement of the iris on the anterior lens surface. The central ring is located at the area of the iris sphincter, while the peripheral ring is only visible after pupil dilation. PXM is also often observed by slit lamp examination at the pupillary margin, on the lens zonules and on the trabecular meshwork. The site of production of this material which is a complex of various glycoproteins is unclear, but PXM can potentially originate from the iris, lens epithelium, ciliary body, or the trabecular meshwork.

Cataract, nuclear => This was HP:0100018 Abnormal lens suspensory ligament (This is a synonym for ciliary zonule): Added term HP:0012628 Def:An anomaly of the suspensory ligament of lens (FMA:58838), also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place.

Phacodonesis. Added term HP:0012629 Phacodonesis Def:Tremulousness (trembling) of the lens of the eye. Comment:Phacodonesis results from lesions of some or most of the zonular fibres are broken.

Poor mydriasis => Not entirely sure what is meant here, probably poor response to mydriasis-inducing medication, but as such the term name is not very usual. If this is needed, please specify better.

Asymmetric pupil sizes => This was Anisocoria, HP:0009916

Pigment deposition in the trabecular meshwork New term HP:0012631, Pigment deposition in the trabecular meshwork Def: Accumulation of abnormal amounts of pigment within the trabecular meshwork.

Open-angle glaucoma due to pupillary and ciliary block => Had term, Primary open angle glaucoma, HP:0012108. Etiologies are not included in HPO terms.

Asymmetry of intraocular pressure New term, HP:0012633, Asymmetry of intraocular pressure, Def: A difference in the amount of intraocular pressure in the right and left eye.

Atypical cornea guttata Corneal guttata are: HP:0012038. If we need to specify this further, then we need a better differentia than "atypical".

Iris rigidity => Needs better definition.

Melanin dispersion in iris => I think this means "HP:0012634, Iris pigment dispersion", Def: Shedding of the pigment granules that normally adhere to the back of the iris into the aqueous humor., Comment: These pigment granules can accumulate in the trabucular meshwork and lead to increased intraocular pressure. That is coded separately as HP:001263.

'Moth-eaten' pattern of peripupillary atrophy THere is a term, HP:0001089, Iris atrophy. This seems like too specific a description to deserve a separate term?

Iris hypoperfusion resulting from degenerated stromal vessels Added term, HP:0012635, Iris hypoperfusion Def: Reduction in the amount of blood flow to the iris.

Pseudouveitis due to breakdown of blood-aqueous barrier => This is too much of an etiological diagnosis and the term "pseudouveitis" does not seem well defined. Retinal vein occlusion -added term HP:0012636, Retinal vein occlusion

Original comment by: pnrobinson