CACNA1F-Related Retinopathy

1. Disease Information

Overview (what is the disease?)

CACNA1F-related retinopathy is an X-linked inherited retinal disorder caused by pathogenic variants in CACNA1F, encoding the Cav1.4 L-type voltage-gated calcium channel α1F subunit expressed at the photoreceptor ribbon synapse. Clinically, CACNA1F variants produce a spectrum spanning non-progressive synaptic transmission disorders (classically incomplete congenital stationary night blindness) through to progressive cone–rod dystrophy phenotypes, with substantial phenotypic overlap and heterogeneity. (marziali2023opticnerveinvolvement pages 1-6, wygledowskapromienska2024alandislandeye pages 1-2, mahmood2021anovelsplicesite pages 5-8)

Key disease entities and OMIM identifiers (available in retrieved sources)

The CACNA1F phenotypic spectrum is explicitly summarized in recent clinical genetics/ophthalmology papers: - CACNA1F gene: MIM 300110 (wygledowskapromienska2024alandislandeye pages 1-2, marziali2023opticnerveinvolvement pages 1-6, mahmood2021anovelsplicesite pages 1-2) - X-linked congenital stationary night blindness type 2A (CSNB2A / iCSNB): OMIM 300071 (wygledowskapromienska2024alandislandeye pages 1-2, schaare2023concomitantcalciumchannelopathies pages 1-2) - Åland Island eye disease (AIED): OMIM 300600 (wygledowskapromienska2024alandislandeye pages 1-2, schaare2023concomitantcalciumchannelopathies pages 1-2) - X-linked cone–rod dystrophy type 3 (CORDX3): OMIM 300476 (wygledowskapromienska2024alandislandeye pages 1-2)

Synonyms and alternative names

• CSNB2A: “incomplete CSNB,” “Miyake incomplete CSNB,” “iCSNB” (marziali2023opticnerveinvolvement pages 1-6)
• AIED: also referred to as “Forsius-Eriksson syndrome” in the CACNA1F spectrum literature (marziali2023opticnerveinvolvement pages 14-20)
• Cross-spectrum wording: “CACNA1F-associated retinopathy/oculopathy” has been proposed to reflect allelic overlap between entities (mahmood2021anovelsplicesite pages 5-8)

Other identifiers (Orphanet, ICD-10/ICD-11, MeSH, MONDO)

These identifiers were not present in the retrieved full-text evidence set and are therefore not reported here to avoid hallucination.

Evidence source type

The information in this report is derived from: - Aggregated disease-level resources in peer-reviewed reviews/case series, plus - Primary human cohorts/case series and animal model studies (mouse; plus mentions of rat/zebrafish models) (marziali2023opticnerveinvolvement pages 6-10, leahy2021opticatrophyand pages 3-6, laird2023mouseallconeretina pages 1-2, maddox2024anonconductingrole pages 1-2).

2. Etiology

Disease causal factors

• Primary cause: Germline pathogenic variants in CACNA1F (X chromosome, Xp11.23) encoding the pore-forming α1F subunit of Cav1.4 L-type voltage-gated calcium channels at the first retinal synapse (photoreceptor → bipolar/horizontal cells). (marziali2023opticnerveinvolvement pages 1-6, ganglberger2025exploringthepotential pages 1-2)

Risk factors

• Genetic: Hemizygous pathogenic CACNA1F variants in males are the main causal risk factor (X-linked inheritance). (mahmood2021anovelsplicesite pages 1-2, marziali2023opticnerveinvolvement pages 1-6)
• Sex: Marked male predominance is reported in literature reviews; one review cohort reported 87% male among CACNA1F cases. (schaare2023concomitantcalciumchannelopathies pages 12-14)

Protective factors

No protective genetic or environmental factors were identified in the retrieved evidence.

Gene–environment interactions

No gene–environment interaction evidence specific to CACNA1F-related retinopathy was identified in the retrieved evidence. Mechanistic papers acknowledge that differential symptoms may involve “genomic and environmental deviations,” but without specific, testable GxE claims. (heigl2023characterizationoftwo pages 1-2)

3. Phenotypes

Core phenotype profile (human)

CACNA1F-related retinopathy classically involves impaired signaling from photoreceptors to bipolar cells, producing a characteristic ERG pattern (electronegative/negative). Across cohorts, common features include reduced visual acuity, myopia (often high), nystagmus, variable nyctalopia and/or photophobia, and sometimes optic disc pallor/inner retinal thinning on OCT. (leahy2021opticatrophyand pages 3-6, marziali2023opticnerveinvolvement pages 6-10, wygledowskapromienska2024alandislandeye pages 1-2)

Quantitative cohort data (selected)

Leahy et al. 2021 (Genes; Feb 2021; DOI: https://doi.org/10.3390/genes12030330) analyzed 22 molecularly confirmed CACNA1F-retinopathy subjects and reported: - Mean VA 0.42 LogMAR; myopia in 15/22 (68%), mean −6.32 D; abnormal color vision in 6/21; optic disc pallor in 21/22; mean macular GCL-IPL 55.00 µm vs 84.57 µm in controls (p << 0.001). (leahy2021opticatrophyand pages 1-2, leahy2021opticatrophyand pages 3-6, leahy2021opticatrophyand pages 6-7)

Marziali et al. 2023 (Ophthalmic Genetics; Dec 2023; DOI: https://doi.org/10.1080/13816810.2022.2132514) multicenter series of 12 patients emphasized long follow-up and stability: - Mean follow-up 11.63 years (range 6–18), persistent myopia (reported as progressive high myopia in some), and low pRNFL thickness in all patients, with longitudinal stability in those tracked. (marziali2023opticnerveinvolvement pages 6-10, marziali2023opticnerveinvolvement pages 20-27)

Phenotype characteristics (onset, course, frequency)

• Onset: Often congenital/early childhood for CSNB2A/AIED; CORDX3 is described as progressive and often begins in adulthood in spectrum reviews, although overlap is common. (wygledowskapromienska2024alandislandeye pages 1-2)
• Course: CSNB2A/AIED are usually described as non-progressive/stationary, but there is a spectrum including progressive phenotypes (CORDX3, X-linked retinitis pigmentosa-like presentations). (marziali2023opticnerveinvolvement pages 1-6, wygledowskapromienska2024alandislandeye pages 1-2, calderon2025anewphenotypic pages 5-7)
• Phenotypic heterogeneity: Frequently emphasized; genotype–phenotype correlations are weak/unclear in multiple sources. (mahmood2021anovelsplicesite pages 2-5, schaare2023concomitantcalciumchannelopathies pages 12-14)

HPO term suggestions (non-exhaustive)

• Nyctalopia HP:0000662
• Photophobia HP:0000613
• Reduced visual acuity HP:0007663
• Myopia HP:0000545 / High myopia HP:0011003
• Nystagmus HP:0000639
• Strabismus HP:0000486
• Abnormal electroretinogram HP:0000556 (for electronegative ERG pattern)
• Optic disc pallor / optic atrophy HP:0000648 / HP:0000649
• Foveal hypoplasia HP:0007368
• Retinoschisis HP:0007668 (reported within AIED spectrum case) (wygledowskapromienska2024alandislandeye pages 1-2)

Quality-of-life impact

Direct validated QoL instruments (EQ-5D/SF-36/PROMIS) were not reported in the retrieved evidence set. Functional impact is indirectly supported by persistent reduced VA, myopia, and photophobia/nyctalopia affecting daily vision. (leahy2021opticatrophyand pages 3-6, marziali2023opticnerveinvolvement pages 1-6)

4. Genetic/Molecular Information

Causal gene

• CACNA1F (Cav1.4 α1F subunit; Xp11.23; OMIM/MIM 300110) (marziali2023opticnerveinvolvement pages 1-6)

Pathogenic variant spectrum

CACNA1F-associated disease includes diverse variant types (missense, nonsense, splice-site, indel, structural changes), with a large and growing allelic spectrum: - One paper reports “230 variants associated with CSNB2A,” with subsets specific to AIED and shared between conditions. (mahmood2021anovelsplicesite pages 2-5) - A review/case report also notes “around 260 variants” reported for AIED/CSNB2A spectrum disorders. (mahmood2021anovelsplicesite pages 1-2) - Intronic/synonymous variants contribute non-trivially (reported “at least 4%” in one excerpt). (mahmood2021anovelsplicesite pages 8-8)

Examples of recently reported variants with functional/clinical evidence: - Splice-altering CACNA1F variant investigated with functional splicing assays (midigene/RT-PCR in HEK293) leading to reclassification under ACMG/AMP/ClinGen frameworks: NM_005183.4:c.2576+4_2576+5del, producing “multimodal splice defect” with both in-frame insertion and frameshift outcomes. (ridgeway2024novelsplicealteringvariants pages 16-17)

Variant functional consequences (mechanistic examples)

• Voltage sensor/gating charge substitutions (e.g., Arg964Gly; Arg1288Leu) can reduce expression and alter activation/inactivation; molecular dynamics suggested possible ω-currents (gating pore currents) as a proposed pathogenic mechanism. (heigl2023characterizationoftwo pages 1-2)

Modifier genes / modifying factors

Evidence for specific modifier genes in CACNA1F disease was not identified in the retrieved full texts; however, multiple papers propose unknown disease-modifying factors to explain variability (including potential splice isoform effects). (wygledowskapromienska2024alandislandeye pages 1-2, calderon2025anewphenotypic pages 2-5)

Epigenetic information / chromosomal abnormalities

No CACNA1F-specific epigenetic disease mechanism evidence was identified in the retrieved sources.

5. Environmental Information

No environmental, lifestyle, toxin, or infectious triggers were identified as causal contributors in the retrieved evidence set.

6. Mechanism / Pathophysiology

Current mechanistic understanding (key concepts)

Cav1.4 channels are localized to photoreceptor synaptic terminals at ribbon synapses, where they provide Ca2+ influx that triggers vesicle fusion and glutamate release to downstream neurons. - A review describes Cav1.4 channels clustering “beneath the synaptic ribbon” to enable Ca2+-dependent synaptic release, and notes that CACNA1F variants produce retinal disorders with variable loss- vs gain-of-function channel phenotypes. (ganglberger2025exploringthepotential pages 1-2) - A cone-focused mechanistic study emphasizes a non-conducting role: Cav1.4 protein contributes to synaptogenesis, and compensatory currents (Cav3) can support photopic vision under some non-conducting Cav1.4 conditions. (maddox2024anonconductingrole pages 1-2)

Causal chain (from gene to clinical manifestation)

1. CACNA1F pathogenic variant alters Cav1.4 channel abundance, biophysics, or synaptic localization (heigl2023characterizationoftwo pages 1-2, ganglberger2025exploringthepotential pages 1-2)
2. Photoreceptor ribbon synapse dysfunction: impaired Ca2+ signaling and/or abnormal ribbon maturation/architecture; errors in synaptic wiring, sprouting, ectopic synapses (zanetti2021functionofcone pages 1-2, ganglberger2025exploringthepotential pages 9-10)
3. Defective photoreceptor→bipolar transmission produces electronegative ERG pattern (reduced b-wave relative to a-wave), reflecting bipolar cell pathway dysfunction (leahy2021opticatrophyand pages 1-2, marziali2023opticnerveinvolvement pages 1-6)
4. Clinical phenotype: reduced VA, myopia, nystagmus, nyctalopia and/or photophobia; in some cohorts, optic disc pallor and inner retinal thinning (GCL-IPL and/or pRNFL/GCC) (leahy2021opticatrophyand pages 3-6, marziali2023opticnerveinvolvement pages 6-10, leahy2021opticatrophyand pages 7-8)

Cell types (CL term suggestions)

• Photoreceptor cell (rod and cone) CL:0000210 (photoreceptor cell) (general)
• Bipolar cell CL:0000740 (retinal bipolar neuron) (general)
• Horizontal cell (retinal) CL:0000741 (retinal horizontal cell) (general)
• Retinal ganglion cell CL:0000745 (general; implicated by GCC thinning metrics)

Tissue/anatomy (UBERON suggestions)

• Retina UBERON:0000966
• Outer plexiform layer UBERON:0001854 (photoreceptor synaptic layer; implied by ribbon synapse localization) (ganglberger2025exploringthepotential pages 9-10)
• Optic nerve UBERON:0000953 (optic nerve involvement reported clinically) (marziali2023opticnerveinvolvement pages 6-10)

GO biological process suggestions (non-exhaustive)

• Synaptic transmission, glutamatergic
• Calcium ion transmembrane transport
• Photoreceptor cell synapse organization
• Regulation of neurotransmitter secretion

Immune involvement

Not supported in retrieved evidence.

Molecular profiling (transcriptomics/proteomics/metabolomics)

No CACNA1F disease-specific omics signatures were identified in the retrieved evidence set.

7. Anatomical Structures Affected

Organ/system level

• Primary organ: eye (retina); visual system. (ganglberger2025exploringthepotential pages 1-2)
• Optic nerve/inner retina involvement: pRNFL and GCC thinning, optic disc pallor/atrophy described in CACNA1F cohorts. (marziali2023opticnerveinvolvement pages 6-10, leahy2021opticatrophyand pages 7-8)

Tissue/cell level

• Photoreceptor terminals and their postsynaptic partners at ribbon synapses (bipolar and horizontal cells). (ganglberger2025exploringthepotential pages 1-2, maddox2024anonconductingrole pages 1-2)

Subcellular level

• Presynaptic active zone and ribbon synapse architecture (ribbon-associated channel clustering). (ganglberger2025exploringthepotential pages 1-2)

8. Temporal Development

Onset

• CSNB2A/AIED: typically congenital or early childhood, with symptoms such as nystagmus, nyctalopia/photophobia, and high myopia in early life. (wygledowskapromienska2024alandislandeye pages 1-2, leahy2021opticatrophyand pages 3-6)

Progression

• Stationary vs progressive spectrum: non-progressive forms (CSNB2A/AIED) contrasted with progressive phenotypes (CORDX3; XLRP-like). (wygledowskapromienska2024alandislandeye pages 1-2, marziali2023opticnerveinvolvement pages 1-6)
• Optic nerve metrics may be stable over follow-up (pRNFL stability). (marziali2023opticnerveinvolvement pages 6-10)

Critical periods

Developmental mechanistic work indicates Cav1.4 is important for ribbon maturation after early postnatal stages in mice; this suggests timing constraints for some interventions, though human critical windows were not established in retrieved sources. (ganglberger2025exploringthepotential pages 6-9)

9. Inheritance and Population

Inheritance pattern

• X-linked recessive inheritance is repeatedly documented. (wygledowskapromienska2024alandislandeye pages 1-2, marziali2023opticnerveinvolvement pages 1-6)

Sex ratio and carrier phenotypes

• A literature review summarizing 54 CACNA1F patients reported 87% male and 13% female. (schaare2023concomitantcalciumchannelopathies pages 12-14)
• Female carriers are often asymptomatic but mild features (e.g., latent nystagmus, color vision disturbance, ERG abnormalities) are reported. (mahmood2021anovelsplicesite pages 1-2, marziali2023opticnerveinvolvement pages 1-6)

Penetrance/expressivity

• Expressivity is variable across allelic conditions; multiple sources emphasize lack of clear genotype–phenotype correlation and possible modifying factors. (mahmood2021anovelsplicesite pages 2-5, wygledowskapromienska2024alandislandeye pages 1-2)

Epidemiology

• A case report/review cited an estimated birth prevalence of AIED ~1 in 22,000 live-born males (secondary reporting within a case report; not independently validated in retrieved evidence set). (calderon2025anewphenotypic pages 1-2)
• Robust prevalence/incidence estimates for CACNA1F-related retinopathy overall were not identified in retrieved evidence.

10. Diagnostics

Key diagnostic concept

Electrophysiology is central. Multiple sources emphasize full-field ERG as the key diagnostic test, especially when clinical symptoms are atypical.

Clinical tests and findings

• Full-field ERG (ISCEV): pathognomonic electronegative/negative ERG pattern (Schubert–Bornschein), reflecting bipolar cell pathway dysfunction. (marziali2023opticnerveinvolvement pages 1-6, durajczyk2025congenitalstationarynight pages 10-12, leahy2021opticatrophyand pages 1-2)
• ON–OFF ERG: differentiates complete vs incomplete CSNB based on ON vs ON+OFF bipolar cell dysfunction patterns. (durajczyk2025congenitalstationarynight pages 10-12)
• OCT: may show inner retinal thinning (GCL-IPL) and/or reduced pRNFL/GCC thickness; foveal hypoplasia, retinoschisis can be present in spectrum cases. (leahy2021opticatrophyand pages 7-8, marziali2023opticnerveinvolvement pages 6-10, wygledowskapromienska2024alandislandeye pages 1-2)
• mfERG / pVEP: used as adjuncts in CSNB cases (cone system dysfunction, prolonged peak times/latencies). (durajczyk2025congenitalstationarynight pages 12-14, durajczyk2025congenitalstationarynight pages 5-10)

Diagnostic yield / genetic testing strategy

• A Swedish IRD cohort re-investigation (322-gene NGS panel) achieved 65% overall molecular diagnostic yield, with CACNA1F accounting for ~3% among prevalent solved genes reported. (areblom2023adescriptionof pages 1-2)
• Diagnostic modalities used in CACNA1F cohorts include WES and custom targeted NGS panels. (marziali2023opticnerveinvolvement pages 6-10)

Differential diagnosis (electronegative ERG)

A CSNB review highlights that electronegative ERG has a differential including unilateral causes (ischemia, siderosis) and bilateral causes (autoimmune retinopathy, vitamin A deficiency, photoreceptor dystrophies), supporting the need for careful interpretation and genetic confirmation. (durajczyk2025congenitalstationarynight pages 10-12)

Diagnostic pitfall (photophobia without night blindness)

A case series emphasizes that photophobia can be the presenting symptom, making CACNA1F-CSNB2 harder to recognize unless extended ffERG is performed. (marziali2023opticnerveinvolvement pages 1-6)

11. Outcome / Prognosis

Visual prognosis

• Cohort data indicate persistent reduced VA and high myopia are common, with evidence for stable clinical course in some domains (e.g., stable BCVA and stable pRNFL over years in a multicenter series). (marziali2023opticnerveinvolvement pages 6-10, marziali2023opticnerveinvolvement pages 10-14)

Morbidity and disability

Formal disability/QoL scales were not retrieved; functional limitation is supported by reduced acuity and refractive error burden. (leahy2021opticatrophyand pages 3-6)

Mortality

No disease-specific mortality is expected or reported in the retrieved evidence.

12. Treatment

Current real-world management

Direct guidelines for supportive care (e.g., refractive correction, low-vision support) were not described in the retrieved evidence set; such interventions are standard in inherited retinal disease care but are not cited here.

Emerging/experimental therapeutics

Gene therapy and gene-based strategies (preclinical; expert review)

A 2025 review focused on Cav1.4-related retinal channelopathies describes several experimental gene-based strategies (preclinical), while emphasizing major translational barriers: - Strategies discussed include β2 subunit augmentation (smaller gene; potentially AAV-packable) to help restore Cav1.4 channel protein in loss-of-function contexts. (ganglberger2025exploringthepotential pages 12-13) - Experimental attempts include in vivo electroporation to reintroduce Cav1.4α1 with partial functional recovery in animal models, and other synapse-restoration approaches, but the review notes limitations such as low transfection efficiency, small sample sizes, and complications. (ganglberger2025exploringthepotential pages 13-15) - A central limitation is CACNA1F gene size exceeding single-AAV packaging, motivating dual-AAV approaches and other delivery innovations; the authors conclude approaches are not yet ready for routine clinical translation. (ganglberger2025exploringthepotential pages 15-16)

Pharmacologic approaches (hypothesis-level, preclinical)

In a Cav1.4-IT mouse study, acute reduction of Ca2+ influx by calcium channel blockade did not rescue synaptic transmission deficits, but the authors propose that long-term low-dose Ca2+ channel blocker treatment might reduce Ca2+ toxicity without major loss of ganglion cell responses. (zanetti2021functionofcone pages 1-2)

Clinical trials

In the clinical trial searches performed, no CACNA1F-specific retinal interventional trials were identified. One retrieved trial involving Cav1.4 addressed psoriasis immunology rather than retinal disease (NCT04459780, not cited in mechanistic/retinal evidence).

MAXO suggestions (management actions; non-exhaustive)

• Genetic testing MAXO:0000127 (general)
• Low vision rehabilitation MAXO:0000662 (general)
• Gene therapy procedure MAXO:0001001 (general; experimental/preclinical context)

13. Prevention

Primary prevention

Not applicable for a Mendelian X-linked disorder (no environmental prevention identified in retrieved evidence).

Secondary prevention

• Genetic counseling and cascade testing are supported indirectly by the X-linked inheritance pattern and carrier state discussion. (mahmood2021anovelsplicesite pages 1-2, wygledowskapromienska2024alandislandeye pages 1-2)

14. Other Species / Natural Disease

The retrieved evidence set mentions multi-species research models (rat, zebrafish), but does not document naturally occurring veterinary disease caused by CACNA1F variants.

15. Model Organisms

Mouse models (key examples)

• Cav1.4 KO: severe synaptic defects and functional blindness, often more severe than human disease. (maddox2024anonconductingrole pages 1-2, ganglberger2025exploringthepotential pages 6-9)
• G369i KI (non-conducting Cav1.4): preserves photopic visual behavior despite synaptic abnormalities, supporting non-conducting roles and homeostatic plasticity. (maddox2024anonconductingrole pages 1-2)
• I756T / Cav1.4-IT KI (gain-of-function): produces ERG abnormalities similar to human CSNB2 with impaired cone pathways and sprouting. (zanetti2021functionofcone pages 1-2)
• Cone-rich “Conefull” crosses: Conefull:α1F KO vs Conefull:α2δ4 KO recapitulate severe vs milder cone synaptopathy phenotypes and enable cone-pathway-focused mechanistic studies. (laird2023mouseallconeretina pages 1-2)

Other species

• A Cav1.4 review summarizes rat models (e.g., p.R981X) and zebrafish cacna1fa models showing cone ERG and vision loss phenotypes. (ganglberger2025exploringthepotential pages 4-6)

Summary Table (phenotypic spectrum and quantitative markers)

The following table compiles key disease entities, diagnostic hallmarks, and quantitative cohort findings useful for a disease knowledge base entry.

Table: This table summarizes the major CACNA1F-related retinal disease entities, highlighting their clinical overlap and the most useful quantitative findings from ERG and OCT studies. It is useful for comparing stationary and progressive presentations and for identifying features that support diagnosis.

Notes on evidence limitations

• PMID limitation: Many retrieved sources are available via DOI/URL in the evidence set; PubMed IDs were not provided in the tool outputs and are therefore not asserted.
• Ontology IDs: MONDO/Orphanet/ICD/MeSH identifiers were not extractable from the retrieved full texts; only OMIM IDs were available.
• Population epidemiology: High-quality population prevalence/incidence data for CACNA1F-related retinopathy were not identified in the retrieved evidence set.

References

1. (marziali2023opticnerveinvolvement pages 1-6): Elisa Marziali, Filip Van Den Broeck, Sara Bargiacchi, Pina Fortunato, Roberto Caputo, Andrea Sodi, Julie De Zaeytijd, Vittoria Murro, Dario Pasquale Mucciolo, Dario Giorgio, Ilaria Passerini, Viviana Palazzo, Francesca Peluso, Elfride de Baere, Christina Zeitz, Bart P. Leroy, Jacopo Secci, and Giacomo M. Bacci. Optic nerve involvement in cacna1f-related disease: observations from a multicentric case series. Ophthalmic Genetics, 44:152-162, Dec 2023. URL: https://doi.org/10.1080/13816810.2022.2132514, doi:10.1080/13816810.2022.2132514. This article has 3 citations and is from a peer-reviewed journal.

2. (wygledowskapromienska2024alandislandeye pages 1-2): Dorota Wyględowska-Promieńska, Marta Świerczyńska, Dorota Śpiewak, Dorota Pojda-Wilczek, Agnieszka Tronina, Mariola Dorecka, and Adrian Smędowski. Aland island eye disease with retinoschisis in the clinical spectrum of cacna1f-associated retinopathy—a case report. International Journal of Molecular Sciences, 25:2928, Mar 2024. URL: https://doi.org/10.3390/ijms25052928, doi:10.3390/ijms25052928. This article has 4 citations.

3. (mahmood2021anovelsplicesite pages 5-8): Usman Mahmood, Cécile Méjécase, Syed M. A. Ali, Mariya Moosajee, and Igor Kozak. A novel splice-site variant in cacna1f causes a phenotype synonymous with åland island eye disease and incomplete congenital stationary night blindness. Genes, 12:171, Jan 2021. URL: https://doi.org/10.3390/genes12020171, doi:10.3390/genes12020171. This article has 20 citations.

4. (mahmood2021anovelsplicesite pages 1-2): Usman Mahmood, Cécile Méjécase, Syed M. A. Ali, Mariya Moosajee, and Igor Kozak. A novel splice-site variant in cacna1f causes a phenotype synonymous with åland island eye disease and incomplete congenital stationary night blindness. Genes, 12:171, Jan 2021. URL: https://doi.org/10.3390/genes12020171, doi:10.3390/genes12020171. This article has 20 citations.

5. (schaare2023concomitantcalciumchannelopathies pages 1-2): Donna Schaare, Sara M. Sarasua, Laina Lusk, Shridhar Parthasarathy, Liangjiang Wang, Ingo Helbig, and Luigi Boccuto. Concomitant calcium channelopathies involving cacna1a and cacna1f: a case report and review of the literature. Genes, 14:400, Feb 2023. URL: https://doi.org/10.3390/genes14020400, doi:10.3390/genes14020400. This article has 5 citations.

6. (marziali2023opticnerveinvolvement pages 14-20): Elisa Marziali, Filip Van Den Broeck, Sara Bargiacchi, Pina Fortunato, Roberto Caputo, Andrea Sodi, Julie De Zaeytijd, Vittoria Murro, Dario Pasquale Mucciolo, Dario Giorgio, Ilaria Passerini, Viviana Palazzo, Francesca Peluso, Elfride de Baere, Christina Zeitz, Bart P. Leroy, Jacopo Secci, and Giacomo M. Bacci. Optic nerve involvement in cacna1f-related disease: observations from a multicentric case series. Ophthalmic Genetics, 44:152-162, Dec 2023. URL: https://doi.org/10.1080/13816810.2022.2132514, doi:10.1080/13816810.2022.2132514. This article has 3 citations and is from a peer-reviewed journal.

7. (marziali2023opticnerveinvolvement pages 6-10): Elisa Marziali, Filip Van Den Broeck, Sara Bargiacchi, Pina Fortunato, Roberto Caputo, Andrea Sodi, Julie De Zaeytijd, Vittoria Murro, Dario Pasquale Mucciolo, Dario Giorgio, Ilaria Passerini, Viviana Palazzo, Francesca Peluso, Elfride de Baere, Christina Zeitz, Bart P. Leroy, Jacopo Secci, and Giacomo M. Bacci. Optic nerve involvement in cacna1f-related disease: observations from a multicentric case series. Ophthalmic Genetics, 44:152-162, Dec 2023. URL: https://doi.org/10.1080/13816810.2022.2132514, doi:10.1080/13816810.2022.2132514. This article has 3 citations and is from a peer-reviewed journal.

8. (leahy2021opticatrophyand pages 3-6): Kate E Leahy, Tom Wright, Monika K Grudzinska Pechhacker, Isabelle Audo, Anupreet Tumber, Erika Tavares, Heather MacDonald, Jeff Locke, Cynthia VandenHoven, Christina Zeitz, Elise Heon, J Raymond Buncic, and Ajoy Vincent. Optic atrophy and inner retinal thinning in cacna1f-related congenital stationary night blindness. Genes, 12:330, Feb 2021. URL: https://doi.org/10.3390/genes12030330, doi:10.3390/genes12030330. This article has 17 citations.

9. (laird2023mouseallconeretina pages 1-2): Joseph G. Laird, Ariel Kopel, Colten K. Lankford, and Sheila A. Baker. Mouse all-cone retina models of cav1.4 synaptopathy. Frontiers in Molecular Neuroscience, Apr 2023. URL: https://doi.org/10.3389/fnmol.2023.1155955, doi:10.3389/fnmol.2023.1155955. This article has 2 citations.

10. (maddox2024anonconductingrole pages 1-2): J Wesley Maddox, Gregory J Ordemann, Juan de la Rosa Vázquez, Angie Huang, Christof Gault, Serena R Wisner, Kate Randall, Daiki Futagi, Nihal A Salem, R Dayne Mayfield, Boris V Zemelman, Steven H DeVries, Mrinalini Hoon, and Amy Lee. A non-conducting role of the cav1.4 ca2+ channel drives homeostatic plasticity at the cone photoreceptor synapse. eLife, Nov 2024. URL: https://doi.org/10.7554/elife.94908.4, doi:10.7554/elife.94908.4. This article has 7 citations and is from a domain leading peer-reviewed journal.

11. (ganglberger2025exploringthepotential pages 1-2): Matthias Ganglberger and Alexandra Koschak. Exploring the potential for gene therapy in cav1.4-related retinal channelopathies. Channels, Mar 2025. URL: https://doi.org/10.1080/19336950.2025.2480089, doi:10.1080/19336950.2025.2480089. This article has 0 citations and is from a peer-reviewed journal.

12. (schaare2023concomitantcalciumchannelopathies pages 12-14): Donna Schaare, Sara M. Sarasua, Laina Lusk, Shridhar Parthasarathy, Liangjiang Wang, Ingo Helbig, and Luigi Boccuto. Concomitant calcium channelopathies involving cacna1a and cacna1f: a case report and review of the literature. Genes, 14:400, Feb 2023. URL: https://doi.org/10.3390/genes14020400, doi:10.3390/genes14020400. This article has 5 citations.

13. (heigl2023characterizationoftwo pages 1-2): Thomas Heigl, Michael A. Netzer, Lucia Zanetti, Matthias Ganglberger, Monica L. Fernández-Quintero, and Alexandra Koschak. Characterization of two pathological gating-charge substitutions in cav1.4 l-type calcium channels. Channels, Mar 2023. URL: https://doi.org/10.1080/19336950.2023.2192360, doi:10.1080/19336950.2023.2192360. This article has 2 citations and is from a peer-reviewed journal.

14. (leahy2021opticatrophyand pages 1-2): Kate E Leahy, Tom Wright, Monika K Grudzinska Pechhacker, Isabelle Audo, Anupreet Tumber, Erika Tavares, Heather MacDonald, Jeff Locke, Cynthia VandenHoven, Christina Zeitz, Elise Heon, J Raymond Buncic, and Ajoy Vincent. Optic atrophy and inner retinal thinning in cacna1f-related congenital stationary night blindness. Genes, 12:330, Feb 2021. URL: https://doi.org/10.3390/genes12030330, doi:10.3390/genes12030330. This article has 17 citations.

15. (leahy2021opticatrophyand pages 6-7): Kate E Leahy, Tom Wright, Monika K Grudzinska Pechhacker, Isabelle Audo, Anupreet Tumber, Erika Tavares, Heather MacDonald, Jeff Locke, Cynthia VandenHoven, Christina Zeitz, Elise Heon, J Raymond Buncic, and Ajoy Vincent. Optic atrophy and inner retinal thinning in cacna1f-related congenital stationary night blindness. Genes, 12:330, Feb 2021. URL: https://doi.org/10.3390/genes12030330, doi:10.3390/genes12030330. This article has 17 citations.

16. (marziali2023opticnerveinvolvement pages 20-27): Elisa Marziali, Filip Van Den Broeck, Sara Bargiacchi, Pina Fortunato, Roberto Caputo, Andrea Sodi, Julie De Zaeytijd, Vittoria Murro, Dario Pasquale Mucciolo, Dario Giorgio, Ilaria Passerini, Viviana Palazzo, Francesca Peluso, Elfride de Baere, Christina Zeitz, Bart P. Leroy, Jacopo Secci, and Giacomo M. Bacci. Optic nerve involvement in cacna1f-related disease: observations from a multicentric case series. Ophthalmic Genetics, 44:152-162, Dec 2023. URL: https://doi.org/10.1080/13816810.2022.2132514, doi:10.1080/13816810.2022.2132514. This article has 3 citations and is from a peer-reviewed journal.

17. (calderon2025anewphenotypic pages 5-7): Ricardo A Murati Calderon and Natalio Izquierdo. A new phenotypic expression in a patient with a mutation in the cacna1f gene. Cureus, Apr 2025. URL: https://doi.org/10.7759/cureus.82577, doi:10.7759/cureus.82577. This article has 2 citations.

18. (mahmood2021anovelsplicesite pages 2-5): Usman Mahmood, Cécile Méjécase, Syed M. A. Ali, Mariya Moosajee, and Igor Kozak. A novel splice-site variant in cacna1f causes a phenotype synonymous with åland island eye disease and incomplete congenital stationary night blindness. Genes, 12:171, Jan 2021. URL: https://doi.org/10.3390/genes12020171, doi:10.3390/genes12020171. This article has 20 citations.

19. (mahmood2021anovelsplicesite pages 8-8): Usman Mahmood, Cécile Méjécase, Syed M. A. Ali, Mariya Moosajee, and Igor Kozak. A novel splice-site variant in cacna1f causes a phenotype synonymous with åland island eye disease and incomplete congenital stationary night blindness. Genes, 12:171, Jan 2021. URL: https://doi.org/10.3390/genes12020171, doi:10.3390/genes12020171. This article has 20 citations.

20. (ridgeway2024novelsplicealteringvariants pages 16-17): Anna R. Ridgeway, Ciara Shortall, Laura K. Finnegan, Róisín Long, Evan Matthews, Adrian Dockery, Ella Kopčić, Laura Whelan, Claire Kirk, Giuliana Silvestri, Jacqueline Turner, David J. Keegan, Sophia Millington-Ward, Naomi Chadderton, Emma Duignan, Paul F. Kenna, and G. Jane Farrar. Novel splice-altering variants in the chm and cacna1f genes causative of x-linked choroideremia and cone dystrophy. Genes, 16:25, Dec 2024. URL: https://doi.org/10.3390/genes16010025, doi:10.3390/genes16010025. This article has 2 citations.

21. (calderon2025anewphenotypic pages 2-5): Ricardo A Murati Calderon and Natalio Izquierdo. A new phenotypic expression in a patient with a mutation in the cacna1f gene. Cureus, Apr 2025. URL: https://doi.org/10.7759/cureus.82577, doi:10.7759/cureus.82577. This article has 2 citations.

22. (zanetti2021functionofcone pages 1-2): Lucia Zanetti, Irem Kilicarslan, Michael Netzer, Norbert Babai, Hartwig Seitter, and Alexandra Koschak. Function of cone and cone-related pathways in cav1.4 it mice. Scientific Reports, Feb 2021. URL: https://doi.org/10.1038/s41598-021-82210-7, doi:10.1038/s41598-021-82210-7. This article has 13 citations and is from a peer-reviewed journal.

23. (ganglberger2025exploringthepotential pages 9-10): Matthias Ganglberger and Alexandra Koschak. Exploring the potential for gene therapy in cav1.4-related retinal channelopathies. Channels, Mar 2025. URL: https://doi.org/10.1080/19336950.2025.2480089, doi:10.1080/19336950.2025.2480089. This article has 0 citations and is from a peer-reviewed journal.

24. (leahy2021opticatrophyand pages 7-8): Kate E Leahy, Tom Wright, Monika K Grudzinska Pechhacker, Isabelle Audo, Anupreet Tumber, Erika Tavares, Heather MacDonald, Jeff Locke, Cynthia VandenHoven, Christina Zeitz, Elise Heon, J Raymond Buncic, and Ajoy Vincent. Optic atrophy and inner retinal thinning in cacna1f-related congenital stationary night blindness. Genes, 12:330, Feb 2021. URL: https://doi.org/10.3390/genes12030330, doi:10.3390/genes12030330. This article has 17 citations.

25. (ganglberger2025exploringthepotential pages 6-9): Matthias Ganglberger and Alexandra Koschak. Exploring the potential for gene therapy in cav1.4-related retinal channelopathies. Channels, Mar 2025. URL: https://doi.org/10.1080/19336950.2025.2480089, doi:10.1080/19336950.2025.2480089. This article has 0 citations and is from a peer-reviewed journal.

26. (calderon2025anewphenotypic pages 1-2): Ricardo A Murati Calderon and Natalio Izquierdo. A new phenotypic expression in a patient with a mutation in the cacna1f gene. Cureus, Apr 2025. URL: https://doi.org/10.7759/cureus.82577, doi:10.7759/cureus.82577. This article has 2 citations.

27. (durajczyk2025congenitalstationarynight pages 10-12): Magdalena Durajczyk and Wojciech Lubiński. Congenital stationary night blindness (csnb)—case reports and review of current knowledge. Feb 2025. URL: https://doi.org/10.3390/jcm14041238, doi:10.3390/jcm14041238. This article has 9 citations.

28. (durajczyk2025congenitalstationarynight pages 12-14): Magdalena Durajczyk and Wojciech Lubiński. Congenital stationary night blindness (csnb)—case reports and review of current knowledge. Feb 2025. URL: https://doi.org/10.3390/jcm14041238, doi:10.3390/jcm14041238. This article has 9 citations.

29. (durajczyk2025congenitalstationarynight pages 5-10): Magdalena Durajczyk and Wojciech Lubiński. Congenital stationary night blindness (csnb)—case reports and review of current knowledge. Feb 2025. URL: https://doi.org/10.3390/jcm14041238, doi:10.3390/jcm14041238. This article has 9 citations.

30. (areblom2023adescriptionof pages 1-2): Maria Areblom, Sten Kjellström, Sten Andréasson, Anders Öhberg, Lotta Gränse, and Ulrika Kjellström. A description of the yield of genetic reinvestigation in patients with inherited retinal dystrophies and previous inconclusive genetic testing. Genes, 14:1413, Jul 2023. URL: https://doi.org/10.3390/genes14071413, doi:10.3390/genes14071413. This article has 8 citations.

31. (marziali2023opticnerveinvolvement pages 10-14): Elisa Marziali, Filip Van Den Broeck, Sara Bargiacchi, Pina Fortunato, Roberto Caputo, Andrea Sodi, Julie De Zaeytijd, Vittoria Murro, Dario Pasquale Mucciolo, Dario Giorgio, Ilaria Passerini, Viviana Palazzo, Francesca Peluso, Elfride de Baere, Christina Zeitz, Bart P. Leroy, Jacopo Secci, and Giacomo M. Bacci. Optic nerve involvement in cacna1f-related disease: observations from a multicentric case series. Ophthalmic Genetics, 44:152-162, Dec 2023. URL: https://doi.org/10.1080/13816810.2022.2132514, doi:10.1080/13816810.2022.2132514. This article has 3 citations and is from a peer-reviewed journal.

32. (ganglberger2025exploringthepotential pages 12-13): Matthias Ganglberger and Alexandra Koschak. Exploring the potential for gene therapy in cav1.4-related retinal channelopathies. Channels, Mar 2025. URL: https://doi.org/10.1080/19336950.2025.2480089, doi:10.1080/19336950.2025.2480089. This article has 0 citations and is from a peer-reviewed journal.

33. (ganglberger2025exploringthepotential pages 13-15): Matthias Ganglberger and Alexandra Koschak. Exploring the potential for gene therapy in cav1.4-related retinal channelopathies. Channels, Mar 2025. URL: https://doi.org/10.1080/19336950.2025.2480089, doi:10.1080/19336950.2025.2480089. This article has 0 citations and is from a peer-reviewed journal.

34. (ganglberger2025exploringthepotential pages 15-16): Matthias Ganglberger and Alexandra Koschak. Exploring the potential for gene therapy in cav1.4-related retinal channelopathies. Channels, Mar 2025. URL: https://doi.org/10.1080/19336950.2025.2480089, doi:10.1080/19336950.2025.2480089. This article has 0 citations and is from a peer-reviewed journal.

35. (ganglberger2025exploringthepotential pages 4-6): Matthias Ganglberger and Alexandra Koschak. Exploring the potential for gene therapy in cav1.4-related retinal channelopathies. Channels, Mar 2025. URL: https://doi.org/10.1080/19336950.2025.2480089, doi:10.1080/19336950.2025.2480089. This article has 0 citations and is from a peer-reviewed journal.

Artifacts

• Edison artifact artifact-00