Eichers et al. (2002) identified 6 Newfoundland pedigrees with a severe rod-cone dystrophy, which they designated NFRCD, that had an ophthalmoscopic appearance similar to that of retinitis punctata albescens (136880), but with age at onset typically in the ... Eichers et al. (2002) identified 6 Newfoundland pedigrees with a severe rod-cone dystrophy, which they designated NFRCD, that had an ophthalmoscopic appearance similar to that of retinitis punctata albescens (136880), but with age at onset typically in the first decade of life and with rapid progression, leading to legal blindness by the second to fourth decades and to a further decrease in visual acuity (such that, by the fifth decade, the affected individual was, at best, only able to count fingers).
Eichers et al. (2002) identified 2 splice-junction mutations (180090.0002 and 180090.0003) in the RLBP1 gene present in different combinations in the 6 NFRCD pedigrees as the likely cause of disease. In contrast to expected homozygosity due to a ... Eichers et al. (2002) identified 2 splice-junction mutations (180090.0002 and 180090.0003) in the RLBP1 gene present in different combinations in the 6 NFRCD pedigrees as the likely cause of disease. In contrast to expected homozygosity due to a founder effect, each mutation was transmitted through 2 different haplotypes, suggesting that the Newfoundland population is more diverse genetically than previously postulated (Bear et al., 1988).