| HPO |
HP:0001256 |
Intellectual disability, mild |
"Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:probinson] |
— |
HP:0001249 |
| HPO |
HP:0007917 |
Tractional retinal detachment |
"A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes. It is usually seen in the context of diseases that induce a fibrovascular response, e.g. diabetes." [HPO:probinson, ISBN-13:978-0199679980] |
— |
HP:0000541 |
| HPO |
HP:0007773 |
Vitreoretinopathy |
"Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment." [HPO:probinson, ORCID:0000-0003-0986-4123, PMID:18179896] |
— |
HP:0004327 |
| HPO |
HP:0001141 |
Severely reduced visual acuity |
"Severe reduction of the ability to see defined as visual acuity less than 6/60 (20/200 in US notation; 0.1 in decimal notation) but at least 3/60 (20/400 in US notation; 0.05 in decimal notation)." [PMID:28779882] |
— |
HP:0007663 |
| HPO |
HP:0012230 |
Rhegmatogenous retinal detachment |
"A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium." [HPO:probinson] |
— |
HP:0000541 |
| HPO |
HP:0000618 |
Blindness |
"Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation." [DDD:gblack, PMID:28779882] |
Various scales have been developed to describe the extent of vision loss and define blindness. Total blindness is the complete lack of form and visual light perception and is clinically recorded as NLP (no light perception). Blindness is frequently used to describe severe visual impairment with residual vision. Those described as having only light perception have no more sight than the ability to tell light from dark and the general direction of a light source. |
HP:0007663 |
| HPO |
HP:0040049 |
Macular edema |
"Thickening of the retina that takes place due to accumulation of fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Macular edema is a common pathological response to a wide variety of ocular insults, most commonly after intraocular (e.g. cataract) surgery or in association with retinal vascular (e.g. diabetic eye disease, retinal vein occlusion) or inflammatory (e.g. uveitis) disease." [ORCID:0000-0003-0986-4123] |
— |
HP:0000969, HP:0030498 |
| HPO |
HP:0001004 |
Lymphedema |
"Localized fluid retention and tissue swelling caused by a compromised lymphatic system." [HPO:sdoelken] |
— |
HP:0000969 |
| HPO |
HP:0007685 |
Peripheral retinal avascularization |
— |
— |
HP:0008046 |
| HPO |
HP:0000533 |
Chorioretinal atrophy |
"Atrophy of the choroid and retinal layers of the fundus." [HPO:probinson, PMID:20224472] |
Choroidal sclerosis is a descriptive term applied to the ophthalmoscopic appearance of prominent white choroidal vessels in which the blood columns are not seen or are sheathed by white lines. Choroidal sclerosis is a term used to describe a group of genetically heterogeneous retinal dystrophies that share a common funduscopic phenotype of scalloped, well-circumscribed, and confluent chorioretinal atrophic lesions that extend beyond the macula. The term choroidal sclerosis was initially coined because of the sclerotic appearance of choroidal vessels which frequently appear white or light-yellow. However, histologic studies have demonstrated the term to be a misnomer as the principle abnormality is the loss of choriocapillaris, retinal pigment epithelium (RPE), and the outer retina in the absence of abnormal sclerotic changes in the choroidal vasculature. Therefore, we are making choroidal sclerosis a synonym of chorioretinal atrophy. |
HP:0200065 |
| HPO |
HP:0011342 |
Mild global developmental delay |
"A mild delay in the achievement of motor or mental milestones in the domains of development of a child." [DDD:hvfirth] |
— |
HP:0001263 |
| HPO |
HP:0012795 |
Abnormality of the optic disc |
"A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination." [HPO:probinson] |
The term 'optic disc' is frequently used to describe the portion of the optic nerve clinically visible on fundoscopic examination. |
HP:0000587 |
| HPO |
HP:0031526 |
Subretinal fluid |
"Edema/fluid accumulating between the retinal pigment epithelium and Bruch's membrane." [] |
— |
HP:0000479 |
| HPO |
HP:0030503 |
Macular telangiectasia |
— |
— |
HP:0007763, HP:0030495 |
| HPO |
HP:0000568 |
Microphthalmia |
"A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:probinson] |
— |
HP:0008056, HP:0100887 |
| HPO |
HP:0100014 |
Epiretinal membrane |
"An epiretinal membrane is a thin sheet of fibrous tissue that can develop on the surface of the macular area of the retina and cause a disturbance in vision. An epiretinal membrane area can develop on the thin macular area of the retin. An epiretinal membrane is also sometimes called a macular pucker, premacular fibrosis, surface wrinkling retinopathy or cellophane maculopathy." [HPO:sdoelken] |
— |
HP:0030498 |
| HPO |
HP:0000518 |
Cataract |
"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule." [HPO:probinson] |
Note that some ophthalmologists call any opacity in the lens a cataract, while others restrict the term to lens opacities that impair vision. We use the term to refer to the first meaning (any lens opacity). |
HP:0000517 |
| HPO |
HP:0007902 |
Vitreous hemorrhage |
"Bleeding within the vitreous compartment of the eye." [DDD:akelly, PMID:16882398] |
The most common causes include proliferative diabetic retinopathy, vitreous detachment with or without retinal breaks, and trauma. Less common causes include vascular occlusive disease, retinal arterial macroaneurysm, hemoglobinopathies, age-related macular degeneration, intraocular tumors, and others. |
HP:0004327, HP:0011885 |
| OMIM |
OMIM:616468 |
EXUDATIVE VITREORETINOPATHY 6; EVR6 |
— |
— |
— |
| OMIM |
OMIM:616469 |
RETINITIS PIGMENTOSA 72; RP72 |
— |
— |
— |