| Phenotype / clinical feature | Phenotype type | Suggested HPO term(s) | Typical onset / progression notes | Frequency / remarks | Supporting citations |
|---|---|---|---|---|---|
| Night blindness | Symptom | HP:0000662 Nyctalopia | Often an early manifestation due to primary rod dysfunction/degeneration; may begin in childhood or early adulthood, but onset is variable across families | Core RP11 feature repeatedly described in PRPF31-associated disease | (pqac-00000000, pqac-00000002, pqac-00000006) |
| Peripheral visual field loss / constriction | Clinical sign / symptom | HP:0001133 Constricted visual fields | Progressive over years to decades, usually following early rod involvement; kinetic visual field shows ongoing decline | One of the hallmark functional deficits in RP11 | (pqac-00000002, pqac-00000005) |
| Rod photoreceptor degeneration | Pathophysiologic/structural manifestation | HP:0000510 Rod-cone dystrophy; HP:0000548 Retinal degeneration | Rods are affected first, with degeneration beginning in the mid-peripheral retina and progressing centrally | Canonical disease pattern in PRPF31-RP11 | (pqac-00000001, pqac-00000006) |
| Secondary cone degeneration / central vision decline | Clinical sign / structural manifestation | HP:0000546 Blindness; HP:0001123 Visual field defect | Typically later than rod loss; progressive cone involvement contributes to reduced central acuity and disability in advanced disease | Represents later-stage disease burden | (pqac-00000002, pqac-00000006) |
| Reduced visual acuity | Clinical sign | HP:0007663 Reduced visual acuity | Usually later-onset than nyctalopia/field loss; worsens progressively with cone and macular involvement | Common outcome measure in natural history and interventional studies | (pqac-00000001, pqac-00000011, pqac-00000014) |
| Abnormal electroretinogram | Electrophysiology abnormality | HP:0001311 Abnormal electroretinogram | Progressive reduction in rod and cone responses; cone ERG decline has been described longitudinally | Used routinely in PRPF31 natural history/phenotyping studies | (pqac-00000005, pqac-00000011, pqac-00000014) |
| Retinal pigment epithelium dysfunction | Cellular / tissue manifestation | HP:0000556 Abnormality of the retinal pigment epithelium | Progressive; modeled in iPSC-RPE with impaired polarity, barrier function, phagocytosis, and cellular stress | May be a major early disease site in PRPF31-RP11 | (pqac-00000001, pqac-00000006, pqac-00000007) |
| Ciliary abnormalities in retinal cells | Cellular manifestation | HP:0100542 Abnormality of ciliogenesis | Linked to mis-splicing of ciliogenesis genes; associated with progressive photoreceptor/RPE dysfunction | Supports classification of PRPF31-RP as partly ciliopathy-like | (pqac-00000001, pqac-00000005) |
| Retinal degeneration with variable age at onset | Disease course characteristic | HP:0000510 Rod-cone dystrophy; HP:0003674 Onset variability | Age at onset is highly variable, reported from about 6 to 71 years in review literature; progression is chronic and typically lifelong | Marked intra- and interfamilial variability is characteristic | (pqac-00000005, pqac-00000002) |
| Incomplete penetrance / asymptomatic carrier state | Inheritance / expressivity feature | HP:0003829 Incomplete penetrance | Some heterozygous carriers remain clinically unaffected, likely because higher wild-type PRPF31 expression remains above a disease threshold | Distinguishing hallmark of PRPF31-RP11 | (pqac-00000002, pqac-00000003, pqac-00000006) |
| Early-onset severe phenotype in some families | Course severity feature | HP:0003581 Childhood onset | Although many cases are later-onset, certain pedigrees show unusually early disease, including childhood nyctalopia and rapid structural change | Highlights variable expressivity and possible modifier effects | (pqac-00000000) |


*Table: This table summarizes the main clinical features reported for PRPF31-related retinopathy (RP11), with suggested HPO mappings and notes on onset and progression. It is useful for structuring phenotype annotations in a disease knowledge base.*