| HPO |
HP:0000007 |
Autosomal recessive inheritance |
"A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:probinson] |
— |
HP:0000005 |
| HPO |
HP:0000662 |
Nyctalopia |
"Inability to see well at night or in poor light." [HPO:probinson] |
— |
HP:0000504 |
| HPO |
HP:0000510 |
Rod-cone dystrophy |
"An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones." [HPO:probinson, PMID:20212494] |
Retinitis pigmentosa is a group of hereditary diseases of the eye. However, the term retinitis pigmentosa has also been used to describe the retinal findings characteristic of these diseases but also seen on other diseases such as Usher syndrome. It is preferable to describe the findings precisely if possible, but this term is kept for convenience. |
HP:0000556 |
| HPO |
HP:0001133 |
Constriction of peripheral visual field |
"An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye." [ORCID:0000-0003-0986-4123] |
— |
HP:0001123 |
| HPO |
HP:0007787 |
Posterior subcapsular cataract |
"A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule." [HPO:probinson] |
— |
HP:0000523 |
| HPO |
HP:0500087 |
Peripapillary atrophy |
"Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve." [PMID:20920826] |
— |
HP:0012512 |
| HPO |
HP:0000613 |
Photophobia |
"Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:probinson] |
Note that the term photodysphoria is used to describe extreme photophobia. |
HP:0000504, HP:0000708 |
| HPO |
HP:0000543 |
Optic disc pallor |
"A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression." [HPO:probinson] |
Optic disc pallor can be judged clinically with serial color photographs or by comparison to the other eye. The pallor reflects replacement of dead axons by glial tissue. The loss of the small capillaries within the nerve accounts for the shift from orange-pink to white. |
HP:0012795 |
| HPO |
HP:0007663 |
Reduced visual acuity |
— |
— |
HP:0000505 |
| HPO |
HP:0000006 |
Autosomal dominant inheritance |
"A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
— |
HP:0000005 |
| HPO |
HP:0000529 |
Progressive visual loss |
"A reduction of previously attained ability to see." [HPO:probinson] |
— |
HP:0000572 |
| 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:0030490 |
Exudative vitreoretinopathy |
— |
— |
HP:0007773 |
| HPO |
HP:0001489 |
Posterior vitreous detachment |
"Separation of the vitreous humor from the retina." [HPO:probinson, PMID:24376338] |
The vitreous humour is a transparent and colorless gel located between the retina and the lens. In posterior vitreous detachment (PVD), the vitreous membrane (which surrounds the vitreous humor) separates from the retina. This condition is common in individuals over 65 years of age but may occur in younger persons. PVD is often characterized by flashes of light and floaters, and may be complicated by retinal detachment. |
HP:0004327 |
| 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:0000545 |
Myopia |
"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry." [HPO:probinson] |
— |
HP:0000539 |
| HPO |
HP:0000541 |
Retinal detachment |
"Separation of the inner layers of the retina (neural retina) from the pigment epithelium." [HPO:probinson] |
— |
HP:0000479 |
| HPO |
HP:0001270 |
Motor delay |
"A type of Developmental delay characterized by a delay in acquiring motor skills." [HPO:probinson] |
— |
HP:0012758 |
| HPO |
HP:0030496 |
Macular exudate |
"Yellow-white intraretinal deposits in the macula typically associated with damaged outer blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature." [ORCID:0000-0003-0986-4123] |
— |
HP:0030495 |
| HPO |
HP:0001493 |
Falciform retinal fold |
"An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset." [HPO:probinson] |
— |
HP:0008052 |
| HPO |
HP:0030666 |
Retinal neovascularization |
"In wound repair, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels to repair or replace damaged vessels. In the retina, NV is a response to ischemia. The NV adheres to the inner surface of the retina and outer surface of the vitreous. NV are deficient in tight junctions and hence leak plasma into surrounding tissue including the vitreous. Plasma causes the vitreous gel to degenerate, contract, and eventually collapse which pulls on the retina. Since retinal NV is adherent to both retina and vitreous, as the vitreous contracts the NV may be sheared resulting in vitreous hemorrhage or the NV may remain intact and pull the retina with the vitreous resulting in retinal elevation referred to as traction retinal detachment." [PMID:23329331] |
When traction retinal detachment involves the macula, which is responsible for reading and driving vision, severe visual loss occurs. |
HP:0008046 |
| HPO |
HP:0100832 |
Vitreous floaters |
"Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent." [HPO:sdoelken] |
Vitreous floaters are described as vitreous condensations (or vitreous debris or vitreous opacities) as a finding upon ophthalmological examination. Floaters can take many forms from little dots, circles, lines, to clouds or cobwebs. The floaters are created by a shadow of the floating vitreal debris that is projected onto the retina, which is described as a veil. |
HP:0000504, HP:0004327 |
| HPO |
HP:0004349 |
Reduced bone mineral density |
"A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones." [HPO:sdoelken] |
— |
HP:0004348 |
| HPO |
HP:0000252 |
Microcephaly |
"Head circumference below 2 standard deviations below the mean for age and gender." [PMID:15806441, PMID:19125436, PMID:25465325, PMID:9683597] |
Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles, others by standard deviations. It is important to add an indication of how far below the normal standard the head circumference is if an accurate assessment of this can be made. Microcephaly is an absolute term. The term relative microcephaly can be used when the head size centile is less than the centile for height, for example, head size at the 3rd centile with height at the 75% for age and sex. On prenatal ultrasound, microcephaly is diagnosed if the head circumference or the biparietal diameter is more than three standard deviations below the mean. Microcephaly is divided into primary microcephaly, which is present at birth, and secondary microcephaly, which develops postnatally. The crucial difference between these groupings is that primary microcephaly is usually a static developmental anomaly, whereas secondary microcephaly indicates a progressive neurodegenerative condition |
HP:0007364, HP:0040195 |
| HPO |
HP:0000365 |
Hearing impairment |
"A decreased magnitude of the sensory perception of sound." [HPO:probinson] |
Hearing loss can be categorized by which part of the auditory system is damaged, as conductive hearing loss, sensorineural hearing loss, and mixed hearing loss. Another axis of classification uses the degree of hearing impairment. The degree of hearing loss is computed by using a three frequency average taken at 500 Hz, 1,000 Hz and 2,000 Hz. The average of these three frequencies is called the Pure Tone Average (PTA). 0-20 dB is considered normal, 21-40 dB mild loss, 41-60 dB moderate loss, 61-70 dB moderately severe loss,71-90 dB severe loss, and greater than 90 dB profound loss. Note that the word deafness is occasionally used to describe partial hearing loss. The World Health Organization uses the word deafness to refer to complete loss of the ability to hear, and hearing impairment to refer to any degree of reduced hearing. |
HP:0000364 |