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retinitis pigmentosa 81 (RP81) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 81

MONDO:0036482

Also known as:RP81

Overview

GeneticsAutosomal recessive · IFT43 (chr 14)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Bone spicule pigmentation of the retina, Nyctalopia, Optic disc pallor, and Attenuation of retinal blood vessels; and common findings: Retinal pigment epithelial atrophy. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	3	Optic disc pallor, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

IFT43 encodes intraflagellar transport 43 (208 aa). As a component of IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in ciliogenesis. Highest expression in Testis (38.9 TPM) and Pituitary (32.1 TPM).

Retinitis pigmentosa 81 is associated with mutations in the IFT43 gene on chromosome 14.

IFT43 is classified as a druggable target with score 0.0.

GeneReviews

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

Cranioectodermal dysplasia (CED) should be suspected in individuals with the following clinical and radiographic findings.

Frequent features (in 75%)

Characteristic facial features (e.g., frontal bossing, low-set/simple ears, high forehead, telecanthus, epicanthal folds, full cheeks, everted lower lip)
Brachydactyly

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for retinitis pigmentosa 81. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs of a newborn or infant diagnosed with cranioectodermal dysplasia (CED), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 5. Recommended Evaluations Following Initial Diagnosis in Individuals with Cranioectodermal Dysplasia

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 7. Recommended Surveillance for Individuals with Cranioectodermal Dysplasia

System/Concern

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for retinitis pigmentosa 81.

35 publications have been identified in PubMed for retinitis pigmentosa 81. Research spans Epidemiology / Natural History (31%), Diagnostic / Biomarker (20%), and Basic Science / Preclinical (17%).

Research Type	Count	% of Total
Disease patterns and progression	11	31%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:46 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617871

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

GeneReviews

Differential Diagnosis

Cranioectodermal dysplasia (CED) is part of a spectrum of disorders caused by disruption of the cilium, an organelle of the cell that appears and functions as an antenna . These disorders, collectively referred to as ciliopathies, display marked phenotypic overlap. Typical clinical features of ciliopathies are: renal cystic disease; retinal dystrophy; shortening of ribs, phalanges, and long bones; polydactyly; hepatic fibrosis; and developmental delay. Within the ciliopathies, Jeune asphyxiating thoracic dystrophy, Mainzer-Saldino syndrome, Ellis-van Creveld syndrome, and the short-rib polydactyly syndromes resemble CED the most . These autosomal recessive skeletal ciliopathies are referred to as short-rib thoracic dysplasia in OMIM (OMIM PS208500). Table 4. Skeletal Ciliopathies of Interest in the Differential Diagnosis of Cranioectodermal Dysplasia

Genes	Disorder	Overlapping Features	Distinguishing Features
Skeletal abnormalities	Extraskeletal features CEP120DYNC2H1DYNC2I1 (WDR60)DYNC2I2 (WDR34)DYNC2LI1IFT52IFT80IFT81IFT140IFT172INTUKIAA0586NEK1TCTEX1D2TTC21BWDR19(OMIM PS208500)	Jeune asphyxiating thoracic dystrophy (JATD)	Polydactyly, brachydactyly, rhizomelic limb shortening
Mainzer-Saldino syndrome (MZSDS)	Phalangeal cone-shaped epiphyses; narrow thorax scaphocephaly variably seen2	Retinal dystrophy; nephronophthisis; cerebellar ataxia hepatic fibrosis variably seen2	MZSDS usually lacks typical ectodermal features of CED.
Short-rib polydactyly syndromes (SRPS)1,3	Extremely short limbs ribs (severe narrow rib cage), polydactyly	Malformations in variety of organs4	SRPS is lethal in perinatal period due to severe narrow rib cage. EVC EVC2
WDR35	Ellis-van Creveld syndrome (EVC)3	Postaxial polydactyly; shortening of limbs ribs	Ectodermal dysplasia affecting hair, nails, teeth;5 congenital heart disease (major finding in EVC syndrome: septal defects, mainly atrial)

Source: GeneReviews — "Cranioectodermal Dysplasia"

System/Concern	Evaluation	Comment
craniosynostosis	Head CT exam in those w/dolichocephaly	To evaluate for craniosynostosis
Skeletal features	Radiograph of thorax long bones	Ectodermal
manifestations	Physical exam of skin, hair, nails, teeth	—
Dental anomalies	Dental eval	Nephronophthisis
Retinal dystrophy	Ophthalmologic eval	By age 4 yrs; ERG fundoscopy can be performed earlier if evidence of vision. Pulmonary manifestations (respiratory distress, asthma,
pneumothorax)	Eval by pulmonologist	Cardiac
malformations	Cardiac eval incl EKG echocardiogram	Developmental
delay	Developmental eval	Brain MRI in those w/delays to assess cause Genetic
counseling	By genetics professionals1	To inform affected persons families re nature, MOI, implications of CED to facilitate medical personal decision making Family support
resources	By clinicians, wider care team, family support organizations	Assessment of family social structure to determine need for:; Community or online such as Parent to Parent; Social work involvement for parental support; Home nursing referral CED = cranioectodermal dysplasia; EKG = electrocardiogram; ERG = electroretinography; MOI = mode of inheritance 1.
Treatment of Manifestations in Individuals with Cranioectodermal Dysplasia Manifestation/Concern	Treatment	Considerations/Other
Craniosynostosis	Surgical treatment usually in 1st yr of life	—
Polydactyly	Surgical correction is optional.	—
Hip dysplasia	Orthopedic care as required	—
Short stature	Growth hormone treatment when standard criteria for this treatment are met	Only for those children w/severe growth deficiency in whom therapy is expected to be successful.
Dental anomalies	Standard treatment per dentist /or oral surgeon	Timely intervention of structural tooth abnormalities /or oligodontia may limit aesthetic, functional, psychological issues.
Nephronophthisis	Treatment per nephrologist	Renal transplantation is an option in advanced stages.
Hepatic fibrosis	Treatment per hepatologist	Liver transplantation is treatment option in advanced stages.
Progressive visual impairment	Low-vision aids per ophthalmologist appropriate educational programs	—
Pulmonary hypoplasia	Mechanical ventilation may be required in affected newborns.	Respiratory infections
Cardiac malformations	Treatment per cardiologist	Developmental delay
Inguinal/umbilical hernias	Surgical intervention	IEP = individualized educational plan; PT = physical therapy Surveillance Table 7.

Kisho

retinitis pigmentosa 81

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Frequent (75%)

Explore clinical features

Clinical Guidance

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

retinitis pigmentosa 81

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Frequent (75%)

Explore clinical features

Clinical Guidance

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications