Traits

Traits linked to RPGR

retinitis pigmentosa GTPase regulator

The Human Phenotype Ontology links 105 traits to RPGR, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the eye

Trait	How often it is seen
Decreased clarity of vision	Always
Difficulties with night vision	Always
Extreme sensitivity of the eyes to light	Always
Perifoveal hypoautofluorescence	Always
Spicular pigmentation of the retina	Always
Abnormal color vision	Very often (80–99%)
Abnormal electroretinogram	Very often (80–99%)
Abnormal retinal pigmentation	Very often (80–99%)
Abnormality of refraction	Very often (80–99%)
Blindness	Very often (80–99%)
Color vision test abnormality	Very often (80–99%)
Inner retinal layer loss on macular OCT	Very often (80–99%)
Involuntary, rapid, rhythmic eye movements	Very often (80–99%)
Limited peripheral vision	Very often (80–99%)
Optic atrophy	Very often (80–99%)
Pendular nystagmus	Very often (80–99%)
Progressive night blindness	Very often (80–99%)
Retina degeneration	Very often (80–99%)
Total colorblindness	Very often (80–99%)
Undetectable light-adapted electroretinogram	Very often (80–99%)
Visual impairment	Very often (80–99%)
Abnormal central response of multifocal electroretinogram	Often (30–79%)
Abnormal full-field electroretinogram	Often (30–79%)
Absent foveal reflex	Often (30–79%)
Blind spot located at fixation point	Often (30–79%)
Bulging cornea	Often (30–79%)
Close sighted	Often (30–79%)
Color blindness	Often (30–79%)
Cystoid macular edema	Often (30–79%)
Eye muscle paralysis	Often (30–79%)
Farsightedness	Often (30–79%)
Glaucoma	Often (30–79%)
Hypoplasia of the fovea	Often (30–79%)
Loss of peripheral vision	Often (30–79%)
Optic disc drusen	Often (30–79%)
Optic disc pallor	Often (30–79%)
Photoreceptor outer segment loss on macular OCT	Often (30–79%)
Posterior subcapsular cataract	Often (30–79%)
Progressive loss of vision	Often (30–79%)
Retinal atrophy	Often (30–79%)
Severe near sightedness	Often (30–79%)
Abnormal macular morphology	Sometimes (5–29%)
Abnormal pupillary light reflex	Sometimes (5–29%)
Eccentric visual fixation	Sometimes (5–29%)
Metamorphopsia	Sometimes (5–29%)
Photopsia	Sometimes (5–29%)
Retinal pigment epithelial mottling	Sometimes (5–29%)
Ring scotoma	Sometimes (5–29%)
Retinal pigment epithelial atrophy	Rarely (1–4%)
Rod-cone dystrophy	Rarely (1–4%)
Hypoautofluorescent macular lesion	Not recorded
Macular degeneration	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of retina blood vessels	Very often (80–99%)
Narrowing of blood vessels in back of eye	Often (30–79%)
Abnormal cardiovascular system morphology	Sometimes (5–29%)
Abnormality of the heart	Sometimes (5–29%)
All organs on wrong side of body	Sometimes (5–29%)
Abnormal inferior vena cava morphology	Rarely (1–4%)
Abnormal location of heart atrium	Rarely (1–4%)
Absent spleen	Rarely (1–4%)
Anomalous pulmonary venous return	Rarely (1–4%)
Atrial situs ambiguous	Rarely (1–4%)
Double outlet right ventricle	Rarely (1–4%)
Multiple small spleens	Rarely (1–4%)
Persistent left superior vena cava	Rarely (1–4%)
Transposition of the great arteries	Rarely (1–4%)

Abnormality of the respiratory system

Trait	How often it is seen
Abnormal sputum	Often (30–79%)
Neonatal respiratory distress	Often (30–79%)
Respiratory tract infection	Often (30–79%)
Wet cough	Often (30–79%)
Lithoptysis	Sometimes (5–29%)
Obstructive lung disease	Sometimes (5–29%)
Partial or complete collapse of part or entire lung	Sometimes (5–29%)
Peribronchovascular interstitial thickening	Sometimes (5–29%)
Permanent enlargement of the airways of the lungs	Sometimes (5–29%)
Pulmonary situs ambiguus	Sometimes (5–29%)
Wheezing	Sometimes (5–29%)
Respiratory failure	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Conductive deafness	Very often (80–99%)
Sensorineural hearing impairment	Very often (80–99%)
Chronic infections of the middle ear	Often (30–79%)
Recurrent middle ear infection	Often (30–79%)
Hearing impairment	Sometimes (5–29%)
Hearing loss, high-frequency	Not recorded
Middle ear infection	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Blockage of nose	Often (30–79%)
Chronic rhinitis	Often (30–79%)
Chronic sinus disease	Often (30–79%)
Nasal polyposis	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal sperm motility	Often (30–79%)
Male infertility	Often (30–79%)
Abnormality of the genitourinary system	Sometimes (5–29%)
Female infertility	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent sinus and lung infections	Often (30–79%)
Recurrent mycobacterial infections	Sometimes (5–29%)
Recurrent bronchitis	Not recorded
Recurrent Haemophilus influenzae infection	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Delayed speech and language development	Sometimes (5–29%)
Morphological central nervous system abnormality	Sometimes (5–29%)
Too much cerebrospinal fluid in the brain	Rarely (1–4%)
Ventriculomegaly	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
Clubbing of fingers and toes	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Intestinal malrotation	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormality of the skeletal system	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Hyperinsulinemia	Often (30–79%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to RPGR and how often each is seen. Find out more at hpo.jax.org.

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