| Phenotype/entity (with OMIM) | Typical onset/course | Key symptoms/signs (HPO suggestions inline) | Key diagnostic tests/findings (ERG/OCT) | Quantitative data (VA, refractive error, OCT thickness, frequencies) | Key citations (DOI/URL and year) |
|---|---|---|---|---|---|
| **CSNB2A / incomplete CSNB (OMIM #300071)** | Congenital or early-childhood onset; classically non-progressive/stationary, though phenotypic variability is recognized across CACNA1F-associated disease (pqac-00000001, pqac-00000002, pqac-00000007) | Nyctalopia **[HP:0000662]**, reduced visual acuity **[HP:0007663]**, myopia/high myopia **[HP:0000545/HP:0011003]**, nystagmus **[HP:0000639]**, strabismus **[HP:0000486]**, photophobia **[HP:0000613]**, red-green color vision defect/dyschromatopsia **[HP:0000654]** (pqac-00000008, pqac-00000011, pqac-00000002) | Full-field ERG shows the characteristic **electronegative/negative Schubert-Bornschein pattern** with preserved or relatively preserved a-wave and reduced b-wave, indicating bipolar cell dysfunction; OCT may show inner retinal thinning/GCL-IPL loss and sometimes fundus changes mainly related to myopia (pqac-00000026, pqac-00000027, pqac-00000013) | In a molecularly confirmed cohort, mean distance VA **0.42 LogMAR**; myopia in **15/22 (68%)**, mean spherical equivalent **−6.32 D**; abnormal color vision in **6/21**; mean GCL-IPL thickness **55.00 µm** vs **84.57 µm** in controls; optic disc pallor in **21/22** (pqac-00000008, pqac-00000011, pqac-00000012) | Leahy 2021, doi:10.3390/genes12030330, https://doi.org/10.3390/genes12030330 (pqac-00000008, pqac-00000011, pqac-00000012); Mahmood 2021, doi:10.3390/genes12020171, https://doi.org/10.3390/genes12020171 (pqac-00000002); Schaare 2023, doi:10.3390/genes14020400, https://doi.org/10.3390/genes14020400 (pqac-00000006) |
| **Åland Island eye disease (AIED) (OMIM #300600)** | Early-childhood onset; traditionally considered an incomplete/non-progressive CACNA1F disorder overlapping strongly with iCSNB/CSNB2A (pqac-00000002, pqac-00000007) | Nystagmus **[HP:0000639]**, low visual acuity **[HP:0007663]**, high myopia **[HP:0011003]**, protan/red-green color vision defect **[HP:0000654]**, retinal hypopigmentation/ocular hypopigmentation **[HP:0011508]**, iris transillumination **[HP:0001088]**, foveal hypoplasia **[HP:0007368]**, nyctalopia **[HP:0000662]** (pqac-00000000, pqac-00000002, pqac-00000026) | ffERG: attenuated dark-adapted a-waves with **abolished b-waves** producing a **negative ERG**; OCT can show **retinoschisis** and **foveal hypoplasia**; phenotype may be electrophysiologically indistinguishable from CSNB2A in some patients (pqac-00000026, pqac-00000007) | Case-level data: 57-year-old man with symptoms since early childhood had bilateral high myopia, diffuse retinal thinning/hypopigmentation, retinoschisis in one eye, foveal hypoplasia in the other; DA 3.0 a-waves attenuated and b-waves abolished; pathogenic hemizygous **c.4051C>T** stop-gain variant reported (pqac-00000026) | Wyględowska-Promieńska 2024, doi:10.3390/ijms25052928, https://doi.org/10.3390/ijms25052928 (pqac-00000000, pqac-00000026); Mahmood 2021, doi:10.3390/genes12020171, https://doi.org/10.3390/genes12020171 (pqac-00000002, pqac-00000007); Schaare 2023, doi:10.3390/genes14020400, https://doi.org/10.3390/genes14020400 (pqac-00000006) |
| **CORDX3 / X-linked cone-rod dystrophy type 3 (OMIM #300476)** | Often progressive and may present later than stationary forms; adult-onset/progressive decline in refraction, acuity, color vision, and fields is described, but some recent reports include earlier-onset/high-myopia presentations (pqac-00000000, pqac-00000001) | Decreased visual acuity **[HP:0007663]**, high myopia **[HP:0011003]**, dyschromatopsia/color vision defect **[HP:0000654]**, photophobia **[HP:0000613]**, visual field abnormality **[HP:0001123]**, macular outer retinal abnormality/atrophy **[HP:0007754]** (pqac-00000000, pqac-00000029) | ERG in cone-rod dystrophy presentations may show markedly reduced/non-recordable photopic responses with reduced scotopic responses; OCT/fundus may show macular outer retinal structural abnormalities; genetic confirmation is essential because phenotype overlaps other IRDs (pqac-00000029, pqac-00000028) | Family study reported 2 X-linked CORD probands with **CACNA1F** variants (**c.2201del**, **c.245G>A**), both with **high myopia** and macular outer structural abnormalities; broader reviews note progressive deterioration in acuity, color vision, and visual fields in CORDX3 (pqac-00000000, pqac-00000029) | Wyględowska-Promieńska 2024, doi:10.3390/ijms25052928, https://doi.org/10.3390/ijms25052928 (pqac-00000000); Calderon 2025, doi:10.7759/cureus.82577, https://doi.org/10.7759/cureus.82577 (pqac-00000029, pqac-00000028); Schaare 2023, doi:10.3390/genes14020400, https://doi.org/10.3390/genes14020400 (pqac-00000006) |
| **CACNA1F-related disease with optic nerve involvement** | Early-onset/congenital phenotype with optic nerve changes that appear largely **stable over time** rather than progressive optic neuropathy (pqac-00000009, pqac-00000010, pqac-00000014) | Optic disc pallor/optic atrophy **[HP:0000648/HP:0000649]**, reduced peripapillary RNFL **[suggested retinal nerve fiber layer thinning]**, ganglion cell complex thinning **[HP:0031610-like inner retinal thinning]**, reduced visual acuity **[HP:0007663]**, myopia **[HP:0000545]**, occasional foveal hypoplasia **[HP:0007368]** (pqac-00000008, pqac-00000010, pqac-00000014) | SD-OCT shows **bilateral low pRNFL and GCC/GCL thickness**; ffERG remains pathognomonic with electronegative dark-adapted responses; MRI can be unremarkable, supporting retinal/optic pathway structural involvement without gross intracranial abnormality (pqac-00000024, pqac-00000014) | Multicenter series: **12 patients**, mean follow-up **11.63 years** (range **6–18**); myopia ranged from **−6.00 D to −21.00 D** in some cases; visual acuity examples **0.2–0.7 LogMAR** and longitudinally stable; pRNFL low in **all patients** with stability over **1–6 years** in those followed serially. Separate 22-subject cohort: optic disc pallor in **21/22**, mean pRNFL **68.67 µm**, temporal RNFL **51.33 µm**, mean GCL-IPL **54.50–55.00 µm** (pqac-00000010, pqac-00000014, pqac-00000012, pqac-00000008) | Marziali 2023, doi:10.1080/13816810.2022.2132514, https://doi.org/10.1080/13816810.2022.2132514 (pqac-00000009, pqac-00000010, pqac-00000014, pqac-00000024); Leahy 2021, doi:10.3390/genes12030330, https://doi.org/10.3390/genes12030330 (pqac-00000008, pqac-00000012) |


*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.*