Phenotypes associated with the disease Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa (ORPHA:436274):
- 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: TAS. Frequency: Obligate (HP:0040280). (ORPHA:436274)
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:436274)
- Cutis laxa (HP:0000973): Wrinkled, redundant, inelastic and sagging skin. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:436274)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:436274)
- Abnormal optic nerve morphology (HP:0000587): Abnormality of the optic nerve. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:436274)
- Redundant skin (HP:0001582): Loose and sagging skin often associated with loss of skin elasticity. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:436274)
- Increased number of skin folds (HP:0007522). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:436274)
- Attenuation of retinal blood vessels (HP:0007843): Narrowing of the retinal blood vessels, both arterioles and venules. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:436274)
- Absent retinal pigment epithelium (HP:0007980): Discrete areas of pallor in which the pigment epithelium, choriocapillaris and choroidal pigment are absent. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:436274)
- Papule (HP:0200034): A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:436274)
- Abnormal fundus morphology (HP:0001098): Any structural abnormality of the fundus of the eye. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:436274)