Table 2. Clinical findings identified in affected individuals carrying mutations in the CHM gene.
| Family | Mutation | Subject | First symptoms and course | Age of ophthalmic evaluation (y) | BVCA OD/OS | Fundus aspect | Visual Field | ERG | Additional findings |
|---|---|---|---|---|---|---|---|---|---|
| RP-0288 | Translocation X;4 [t X;4] | Proband | NB (5y), field constriction (23y) and loss of VA (34y) | ND | 0.5/0.5 | Choroidal atrophy | Loss of peripheral VF remaining central island | Reduced | Cataracts |
| RP-1226 | Complete CHM and DACH2 deletion | Proband | NB (3y) | 5 | 0.8/0.8 | Pigment clumping | ND | ND | |
| Sibling | NB (8y) | 10 | 0.8/0.8 | Pigment clumping | Loss of peripheral VF remaining central island | ND | |||
| Sibling | NB (10y) | 12 | 1/1 | Pigment clumping | Loss of peripheral VF remaining central island | Reduced | |||
| RP-0747 | Complete CHM and DACH2 deletion | Proband | NB (11y), field constriction (11y) | ND | 1/1 | Peripheral choroidal atrophy and focal atrophy of the RPE | Loss of peripheral VF remaining central island | Reduced | |
| RP-1959 | Complete CHM deletion | Proband | NB (16y) | ND | 0.8/0.35 | Choroidal atrophy and pigment clumping | Loss of peripheral VF | ND | |
| RP-1144 | Promoter to intron 1 deletion | Proband | NB (17y), field constriction (18y) and loss of VA (50y) | 63 | 0.3/0.1 | Generalized choroideal atrophy | Loss of peripheral VF remaining central island (>5°) | NR | |
| Grandson | NB (4y) | 4 | 0.3/0.1 | Pigment clumping | NR | ||||
| RP-1276 | Promoter to exon 2 deletion | Proband | ND | 37 | >0.1/>0.1 | Pigment clumping and areas of choriocapillaries loss | Loss of peripheral VF remaining central island (5°) | NR | |
| RP-0317 | Exon 2 deletion | Proband | NB (23y), field constriction (23y) and loss of VA (33y) | 3 | 0.25/0.5 | Peripheral choroidal atrophy and focal atrophy of the RPE | Absolute scotoma | NR | Macular oil spill OD (33 y) |
| Sibling | NB (21y), field constriction (26y) and loss of VA (17y) | 40 | 0.3/0.8 | Generalized choroideal atrophy. Pigment clumping and areas of choriocapillaries loss | Loss of peripheral VF remaining central island | NR | |||
| RP-0918 | Exon 3 and exon 4 deletion | Proband | NB (64y), field constriction (64y) | 66 | ND | Peripheral choroidal atrophy and focal atrophy of the RPE | Affected visual field | ND | |
| RP-2149 | Exon 4 to exon 15 deletion | Proband | NB (27y) | ND | 0.01/LP | Generalized choroideal atrophy. Pigment clumping and areas of choriocapillaries loss | ND | Reduced RE, NR LE | |
| RP-1809 | Exon 6 and exon 7 deletion | Proband | ND | ND | ND | ND | ND | NR | |
| RP-0779 | Exon 9 deletion | Proband | ND | ND | ND | ND | ND | ND | |
| RP-1310 | Exon 9 deletion | Proband | NB (4y) | ND | 0.5/0.125 | Pigment clumping and areas of choriocapillaries loss | Loss of peripheral VF remaining central island (5–10°) | Reduced | |
| RP-1560 | Exon 9 deletion | Proband | NB (8y) | ND | ND | ND | Loss of peripheral VF | ND | |
| RP-2128 | Exon 9 deletion | Proband | NB (30y), field constriction (30y) and loss of VA (30y) | ND | 0.1/0.3 | Diffuse choroidal atrophy | Loss of peripheral VF remaining central island (10°) | ND | |
| RP-0022 | p.Lys178Argfs*5 | Proband | NB (8y), field constriction (8y) and loss of VA (14y) | 43 | 0.1/0.1 | Peripheral choroidal atrophy and focal atrophy of the RPE | Loss of peripheral VF remaining central island | NR | Myopia. Hypoacusia |
| Cousin | NB (26y), field constriction (26y) and loss of VA (26y) | ND | ND | ND | ND | ND | Hypermetropia | ||
| RP-0962 | p.Lys178Argfs*5 | Proband | ND | ND | ND | ND | ND | ND | |
| RP-0889 | p.Arg214Asnfs*8 | Proband | NB (28y), field constriction (28y) | 28 | 0.8/CF | ND | Absolute scotoma | NR | |
| RP-1164 | p.Thr288Asnfs*19 | Proband | NB (18y), field constriction (18y) | 28 | 1/1 | Peripheral choroidal atrophy and focal atrophy of the RPE | Loss of peripheral VF remaining central island | Reduced | |
| Sibling | NB (28y), field constriction (28y) | 28 | ND | ND | ND | ND | |||
| RP-0729 | c.189+1G>A | Proband | NB (26y), field constriction (28y) and loss of VA (35y) | 36 | 0.3/0.4 | Pigment clumping with macular atrophy | Loss of peripheral VF remaining central island | NR | |
| MD-0495 | c.189+1G>A | Proband | NB (25y), field constriction (24y) and loss of VA | 24 | 0.05/0.05 | Atrophy of the RPE | Loss of peripheral VF (>10°) | NR | |
| RP-1500 | c.1168-2A>G | Proband | NB (10y), field constriction (20y) and loss of VA (32y) | ND | >0.1/>0.1 | Peripheral choroidal atrophy and focal atrophy of the RPE with subsequent exposure of choroidal vessels. Pigment clumping | Loss of peripheral VF | ND | |
| RP-1995 | c.1167-1G>T | Proband | NB (30y), field constriction (35y) and loss of VA (31y) | 30 | Legal blindness | Choroidal atrophy | Absolute scotoma (RE); <10° (OS) | ND | |
| RP-1224 | p.Ser39* | Proband | NB (30y), field constriction (35y) and loss of VA (35y) | ND | 0.8/LP | ND | ND | ND | |
| RP-2199 | p.Trp47* | Proband | NB (19y), field constriction (33y) and loss of VA (33y) | 36 | 0.7/0.8 | Peripheral choroidal atrophy and focal atrophy of the RPE | Loss of peripheral VF remaining central island | NR | |
| RP-1098 | p.Gln76* | Proband | NB (22y), field constriction (21y) | 27 | Amaurosis (ptisis bulbi)/1 | Peripheral choroidal and Bruch´s membrane atrophy with pigment clumping | Loss of peripheral VF remaining central island | NR | |
| RP-0797 | p.Tyr103* | Proband | NB (44y), field constriction (40y) and loss of VA (44y) | 46 | 0.4/CF | Generalized choroidal atrophy | Loss of peripheral VF remaining central island | NR | Epilepsy (42y) |
| RP-0590 | p.Arg239* | Proband | NB (16y), field constriction (27y) | 27 | 1/1 | Pigment clumping and areas of choriocapillaries loss | Loss of peripheral VF remaining central island (10°) | NR | |
| Sibling | NB (6y), field constriction (18y) | 19 | 0.6/0.7 | Pigment clumping and areas of choriocapillaries loss | Loss of peripheral VF remaining central island (5°) | NR | Cataracts | ||
| Sibling | NB (16y), field constriction (20y) | 28 | 1/1 | Pigment clumping and areas of choriocapillaries loss | Loss of peripheral VF remaining central island (5°) | NR | |||
| RP-0884 | p.Arg293* | Proband | ND | 27 | ND | ND | ND | ND | |
| RP-1171 | p.Arg293* | Proband | NB (8y), field constriction (26y) and loss of VA (15y) | ND | 0.6/0.6 | ND | Loss of peripheral VF | NR | |
| RP-1448 | p.Arg293* | Proband | NB (8y), field constriction (15y) and loss of VA (30y) | 39 | ND | Peripheral choroidal atrophy and focal atrophy of the RPE | Loss of peripheral VF | NR | |
| RP-1546 | p.Arg293* | Proband | NB (13y), field constriction (23y) and loss of VA (23y) | ND | ND | ND | ND | NR | |
| RP-0023 | p.Ser340* | Proband | NB (7y), field constriction (17y) and loss of VA (7y) | 44 | CF/HM | Pigment clumping with macular atrophy | Loss of peripheral VF | NR | |
| Uncle | Loss of VA (52y) | ND | 0.8/0.9 | Peripheral choroidal atrophy and pigment clumping | Loss of peripheral VF remaining central island | ND | |||
| RP-0411 | p.Gln425* | Proband | NB (20y), field constriction (24y) and loss of VA (20y) | ND | 0.1/0.1 | Peripheral choroidal atrophy | Loss of peripheral VF remaining central island (10–15°) | NR | |
| Sibling | ND | ND | 1/1 | Peripheral choroidal atrophy | Loss of peripheral VF remaining central island (20–30°) | NR | |||
| RP-1508 | p.Glu491* | Proband | ND | ND | ND | ND | ND | ND | |
| RP-2342 | p. Leu568* | Proband | NB (7y), field constriction (27y) and loss of VA (38y) | 7 | 0.05/0.4 | Optic pallor, choroidal atrophy, thin retinal vessels. | Affected visual field | NR | |
| RP-1495 | p.Gly17Cys | Proband | ND | ND | ND | ND | ND | ND |
BCVA: best corrected visual acuity; OD: right eye; OS: left eye; ERG: electroretinogram; NB: night blindness; VA: visual acuity; VF: visual field; ND: no data; NR: non recordable; RPE: retinal pigmented epithelium; CF: counting fingers; LP: light perception; HM: hand motion