Phenotypes associated with the disease retinitis pigmentosa 98 (OMIM:620996):
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 23/55. (PMID:39191256)
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: PCS. Frequency: 61/61. (PMID:39191256)
- Strabismus (HP:0000486): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: PCS. Frequency: 3/3. (PMID:39191256)
- Middle age onset (HP:0003596): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 1/55. (PMID:39191256)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: PCS. Frequency: 1/61. (PMID:39191256)
- Severely reduced visual acuity (HP:0001141): Severe reduction of the ability to see. On the 6m visual acuity scale, severe reduction is defined as less than 6/60 but at least 3/60. On the 20ft visual acuity scale, severe reduction is defined as less than 20/200 but at least 20/400. On the decimal visual acuity scale, severe reduction is defined as less than 0.1 but at least 0.05. Evidence: PCS. Frequency: 4/4. (PMID:39191256)
- Right hemiplegia (HP:0040293). Evidence: PCS. Frequency: 1/61. (PMID:39191256)
- Mildly reduced visual acuity (HP:0032037): Mild reduction of the ability to see. On the 6m visual acuity scale, mild reduction is defined as less than 6/12 but at least 6/18. On the 20ft visual acuity scale, mild reduction is defined as less than 20/40 but at least 20/70. On the decimal visual acuity scale, mild reduction is defined as less than 0.5 but at least 0.3. Evidence: PCS. Frequency: 20/20. (PMID:39191256)
- High myopia (HP:0011003): A severe form of myopia with greater than -6.00 diopters. Evidence: PCS. Frequency: 2/2. (PMID:39191256)
- Cystoid macular edema (HP:0011505): Cystoid thickening of the retina that takes place due to accumulation of extracellular fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Histological studies show that radially orientated cystoid spaces consisting of ophthalmoscopically clear fluid are often clinically detectable in the macula area. Evidence: PCS. Frequency: 3/3. (PMID:39191256)
- Moderately reduced visual acuity (HP:0030515): Moderate reduction of the ability to see. On the 6m visual acuity scale, moderate reduction is defined as less than 6/18 but at least 6/60. On the 20ft visual acuity scale, moderate reduction is defined as less than 20/70 but at least 20/200. On the decimal visual acuity scale, moderate reduction is defined as less than 0.3 but at least 0.1. Evidence: PCS. Frequency: 10/10. (PMID:39191256)
- Macular edema (HP:0040049): Thickening of the retina that takes place due to accumulation of extracellular fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. It can either have a cystoid aspect in the fovea, or a more diffuse aspect. Evidence: PCS. Frequency: 4/4. (PMID:39191256)
- Pseudophakia (HP:0500081): The term pseudophakia refers to having an artificial lens implanted after the natural eye lens has been removed. During cataract surgery the natural cloudy lens is replaced by an pseudophakia intraocular lens (IOL). Evidence: PCS. Frequency: 2/2. (PMID:39191256)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 30/55. (PMID:39191256)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 1/55. (PMID:39191256)
- Autism (HP:0000717): Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV). Evidence: PCS. Frequency: 1/61. (PMID:39191256)
- Amblyopia (HP:0000646): Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. Evidence: PCS. Frequency: 1/1. (PMID:39191256)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 27/27. (PMID:39191256)
- Autosomal recessive inheritance (HP:0000007): 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). Evidence: PCS. (PMID:39191256)
- Peripheral visual field loss (HP:0007994): Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision. Evidence: PCS. Frequency: 62/62. (PMID:39191256)
- Rod-cone dystrophy (HP:0000510): 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. Evidence: PCS. Frequency: 62/62. (PMID:39191256)
- Obesity (HP:0001513): Accumulation of substantial excess body fat. Evidence: PCS. Frequency: 1/61. (PMID:39191256)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: PCS. Frequency: 7/7. (PMID:39191256)
- Subcapsular cataract (HP:0000523): A cataract that affects the region of the lens directly beneath the capsule of the lens. Evidence: PCS. Frequency: 2/2. (PMID:39191256)