Table 1. Review of published CNNM4 mutations and associated phenotype.
| Mutation 1 | Mutation 2 | Author | N | M | F | Age (years) | VA | Nystagmus | Refraction (SE) (Dpt) | Fundus | ERGa | Origin |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c.1312dupC: p.L438Pfs*9 | c.1312dupC: p.L438Pfs*9 | Present study | 2 | 0 | 2 | 15, 16 | 20/200, 20/400 (1/2 progressive) | Fine pendular (1/2) | −0.5 to +2.0 | Optic atrophy Macular atrophy of minor to severe extent | Scotopic: reduced, delayed Photopic: NR | Kosovo |
| c.1312dupC: p.L438Pfs*9 | c.1312dupC: p.L438Pfs*9 | Polok et al3 | 2 | 1 | 1 | 7, 14 | 20/100 to 20/320 | Pendular | Highly hypermetropic | Optic atrophy Macular atrophy w/ pigment mottling, periphery: white dots, 1/2: bone spiculae | Scotopic: b-wave reduced, slightly delayed Photopic: NR Repeat after 7 yrs: progressive deterioration | Kosovo |
| c.1312dupC: p.L438Pfs*9 | c.1312dupC: p.L438Pfs*9 | Parry et al2 Michaelides et al6 | 2 | 2 | 0 | 8, 10 | 3/60 | Fine pendular | Hypermetropic astigmatism | Macular atrophy and pigmentation | Rod response: abnormal Cone response: NR Repeat after 4 yrs: progressive deterioration | Kosovo |
| c.1312dupC: p.L438Pfs*9 | c.1312dupC: p.L438Pfs*9 | Zobor et al7 | 1 | 0 | 1 | 9 | 0.05, 0.125 | Slight myopia, astigmatism | Optic atrophy RPE atrophy macula | Scotopic: slightly delayed Cone response: NR | Kosovo | |
| c.1312dupC: p.L438Pfs9* | c.1312dupC: p.L438Pfs9* | Luder et al5 | 2 | 2 | 3, 4 | 20/200 | Fine pendular to jerky | +8.0, +9.0 | Optic atrophy Macular atrophy | Scotopic: reduced Photopic: NR | Kosovo | |
| c.599C>A: p.S200Y | c.599C>A: p.Ser200Y | Parry et al2 Jalili and Smith1 Jalili4 | 31 | 17 | 14 | 0.25–50 | 6/36 to NLP | Fine pendular to jerky | average +3.0 | RPE macular atrophy, normal optic disc (early) Chorioretinal atrophy, optic atrophy (late) | Scotopic (n=3): slightly to severely reduced b-wave Flicker response: NR | Gaza A |
| c.1813C>T: p.R605* | c.1813C>T: p.R605* | Parry et al2 Jalili4 | 3 | 1 | 2 | 5, 6, 10 | 2/60 to 6/60 | Fine | +2.0 to 4.0 | Normal macula, few RPE changes (1/3), optic disc unremarkable | b-wave impaired, NR at age 10, cone: impaired to NR | Gaza B |
| c.586T>C: p.S196P | c.586T>C: p.S196P | Parry et al2 | 2b | 2 | 5, 6 | Turkey | ||||||
| c.1-?_1403+?del | c.1-?_1403+?del | Parry et al2 | 4b | 3 | 1 | Iran | ||||||
| c.2149C>T: p.Q717* | c.62_145 del: L21Hfs*185 | Parry et al2 | 5b | 5 | Guatemala | |||||||
| c.971T>C: p.L324P | c.1690T>C: p.Q564* | Parry et al2 | 1b | 1 | Scotland | |||||||
| c.707G>A: p.R236Q | c.707G>A: p.R236Q | Polok et al3 | 3 | 2 | 1 | 2, 6, 12 | Low | Rapid | Scotopic: normal to reduced, photopic: severely attenuated to NR | Lebanon | ||
| c.971T>C: p.L324P | c.971T>C: p.L324P | Polok et al3 | 1 | 0 | 1 | 38 | LP (10/200 at age 6) | Slight myopia, astigmatism | Optic atrophy, macular atrophy, bone spiculae in midperiphery | NR | ||
| c.1555C>T: p.R519* | c.1555C>T: p.R519* | Doucette et al8 | 4 | 1 | 3 | 16–28 (f.u. 16–20) | 20/200 to HM, progression | Yes | Myopia | 1/4 Maculopathy, 1/4 bone spiculae, 2/4 ND | 1/4 Rod normal, cone absent, 1/4 rod borderline, cone absent, 2/4 ND | Northern Europe |
| c.1484C>T p.T495I | c.1484C>T p.T495I | Abu-Safieh et al9 | 1 | CRD (not sure if ERG was done) | ||||||||
| c.189del p.D63Efs*12 | c.189del p.D63Efs*12 | Coppieters et al10 | 3 | 2 | 1 | 1/3 Reported: maculopathy, outer retinal atrophy w/ pigmentation | Algeria |
Abbreviations: CRD, cone–rod dystrophy; Dpt, diopter; ERG, full-field electroretinography; F, female; f.u., follow-up; HM, hand motion detection; LP, light perception; M, male; ND, not done; NLP, no light perception; NR, non-recordable; RPE, retinal pigment epithelium; SE, spherical equivalent; VA, visual acuity; w/, with; yrs, years.
a
ERG description as written in publication.
b
Numbers are based on the pedigree shown in publication.