Table 2 of
Ba-Abbad, Mol Vis 2013; 19:2250-2259. Table 2 of
Ba-Abbad, Mol Vis 2013; 19:2250-2259.
Table 2. Clinical and genetic findings in individuals with CDHR1-related retinopathy described here and elsewhere.
| Genotype | Predicted amino acid sequence | Age at presentation | Symptoms | Retinal features | Electroretinography | Reference |
|---|---|---|---|---|---|---|
| Homozygous c.524dupA p.Asn176GlufsX48 |
Loss of 637 carboxyl amino acids | 6 months - 37 years | Reduced visual acuity in the 2nd decade, nyctalopia and impaired color vision | Macular atrophic changes, extensive sheen, peripheral RPE atrophy and bone-spicule pigmentation | Markedly delayed and reduced rod and cone responses, undetectable in some cases | Ostergaard et al [10] |
| Homozygous c.338delG p.Gly113AlafsX2 |
Loss of 746 carboxyl amino acids | 34, 36, 42 years | Nyctalopia in late teenage years , visual acuity is preserved until the 4th decade, deteriorated thereafter, impaired color vision | Macular atrophic changes, peripheral circular patches of RPE atrophy, bone-spicule pigmentation and vascular attenuation | Mild cone-rod dysfunction in the youngest, moderate-severe rod-cone dysfunction in the older 2 individuals | Henderson et al [9] (family GC16464) |
| Homozygous c.1381 C>T p.Gln461X |
Loss of 399 carboxyl amino acids | 32, 36, 45 years | Glare and photosensitivity in childhood, nyctalopia in adolescence, impaired color vision by the 3rd decade, visual acuity loss by the 4th decade | Bull’s eye pattern, peripheral RPE atrophy, bone-spicule pigmentation and vascular attenuation, relative preservation of the anatomic fovea by OCT | Undetectable | Duncan et al [12] |
| Homozygous c.1463delG (annotated c.1459delG [9]) p.Gly488AlafsX20 | Loss of 353 carboxyl amino acids | 32 years 24, 18, 16 years | Nyctalopia in late teenage years, visual acuity is preserved until the 4th decade, deteriorated thereafter, impaired color vision. Lack of retinal signs led to suspected neurological cause for field loss at presentation [9]. Reduced visual acuity in the 2nd decade, impaired color vision. | Circular macular atrophic changes, peripheral circular patches of RPE atrophy, bone-spicule pigmentation and vascular attenuation [9]. Mild macular RPE changes, no peripheral retinal changes, dome-shaped subfoveal pigmented lesions, relative preservation of the anatomic fovea by OCT | Undetectable [9] Markedly delayed and reduced cone and rod responses | Henderson et al [9] (family GC3748) Present paper (family GC18832) |
| Homozygous c.1485+2T>G |
Elimination of intron 13 donor splice site | 36, 38 years | Reduced visual acuity in the 2nd decade , nyctalopia | Macular atrophic changes, peripheral RPE atrophy, few bone-spicule pigmentation, relative preservation of the anatomic fovea by OCT | Undetectable cone response, markedly reduced rod response. | Cohen et al [11] |