#617304
Table of Contents
A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-77 (RP77) is caused by homozygous or compound heterozygous mutation in the REEP6 gene (609346) on chromosome 19p13.
For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
Arno et al. (2016) examined the probands from 5 unrelated families with autosomal recessive retinitis pigmentosa. All probands presented with nyctalopia, with onset varying from early childhood to 20 years of age. There was a gradual decline in vision, characterized by reduced peripheral visual fields followed by reduced visual acuity. At last review (ages 20 to 54 years), visual acuity ranged from 20/30 to 20/400, and all patients had significantly constricted visual fields, ranging from less than 10 degrees to 30 degrees. Four probands also had posterior subcapsular cataracts that required surgery in 2 cases. Fundus examination revealed attenuated retinal vessels and midperiphery pigmentary mottling due to atrophy of the retinal pigment epithelium; 4 probands also showed intraretinal pigmentary migration ('bone spicules'). OCT imaging of the macula demonstrated outer retinal atrophy with centrally preserved inner segment ellipsoid bands, and 2 probands had cystoid macular edema. Fundus autofluorescence imaging revealed parafoveal rings of increased autofluorescence and widespread loss of autofluorescence in the midperiphery, which showed nummular features in 3 affected individuals. Electrophysiologic testing in 3 probands showed severe generalized retinal dystrophy, with severely reduced or undetectable responses in 2 individuals in their thirties and severe cone-rod dystrophy in 1 patient at age 15 years. Arno et al. (2016) concluded that the clinical findings were consistent with a diagnosis of RP.
The transmission pattern of RP in the families reported by Arno et al. (2016) was consistent with autosomal recessive inheritance.
By whole-exome sequencing in 2 probands with RP who were negative for mutation in 176 and 226 retinal disease-associated genes, respectively, as well as by whole-genome sequencing in 599 probands with inherited retinal disease and direct Sanger sequencing in a panel of 400 RP-affected individuals who were negative for mutation in 192 known RP-associated genes, Arno et al. (2016) identified affected individuals from 5 families with homozygous or compound heterozygous mutations in the REEP6 gene (see, e.g., 609346.0001-609346.0004).
Arno, G., Agrawal, S. A., Eblimit, A., Bellingham, J., Xu, M., Wang, F., Chakarova, C., Parfitt, D. A., Lane, A., Burgoyne, T., Hull, S., Carss, K. J., and 18 others. Mutations in REEP6 cause autosomal-recessive retinitis pigmentosa. Am. J. Hum. Genet. 99: 1305-1315, 2016. [PubMed: 27889058, images, related citations] [Full Text]
ORPHA: 791; DO: 0080350;
Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
---|---|---|---|---|---|---|
19p13.3 | Retinitis pigmentosa 77 | 617304 | Autosomal recessive | 3 | REEP6 | 609346 |
A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-77 (RP77) is caused by homozygous or compound heterozygous mutation in the REEP6 gene (609346) on chromosome 19p13.
For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
Arno et al. (2016) examined the probands from 5 unrelated families with autosomal recessive retinitis pigmentosa. All probands presented with nyctalopia, with onset varying from early childhood to 20 years of age. There was a gradual decline in vision, characterized by reduced peripheral visual fields followed by reduced visual acuity. At last review (ages 20 to 54 years), visual acuity ranged from 20/30 to 20/400, and all patients had significantly constricted visual fields, ranging from less than 10 degrees to 30 degrees. Four probands also had posterior subcapsular cataracts that required surgery in 2 cases. Fundus examination revealed attenuated retinal vessels and midperiphery pigmentary mottling due to atrophy of the retinal pigment epithelium; 4 probands also showed intraretinal pigmentary migration ('bone spicules'). OCT imaging of the macula demonstrated outer retinal atrophy with centrally preserved inner segment ellipsoid bands, and 2 probands had cystoid macular edema. Fundus autofluorescence imaging revealed parafoveal rings of increased autofluorescence and widespread loss of autofluorescence in the midperiphery, which showed nummular features in 3 affected individuals. Electrophysiologic testing in 3 probands showed severe generalized retinal dystrophy, with severely reduced or undetectable responses in 2 individuals in their thirties and severe cone-rod dystrophy in 1 patient at age 15 years. Arno et al. (2016) concluded that the clinical findings were consistent with a diagnosis of RP.
The transmission pattern of RP in the families reported by Arno et al. (2016) was consistent with autosomal recessive inheritance.
By whole-exome sequencing in 2 probands with RP who were negative for mutation in 176 and 226 retinal disease-associated genes, respectively, as well as by whole-genome sequencing in 599 probands with inherited retinal disease and direct Sanger sequencing in a panel of 400 RP-affected individuals who were negative for mutation in 192 known RP-associated genes, Arno et al. (2016) identified affected individuals from 5 families with homozygous or compound heterozygous mutations in the REEP6 gene (see, e.g., 609346.0001-609346.0004).
Arno, G., Agrawal, S. A., Eblimit, A., Bellingham, J., Xu, M., Wang, F., Chakarova, C., Parfitt, D. A., Lane, A., Burgoyne, T., Hull, S., Carss, K. J., and 18 others. Mutations in REEP6 cause autosomal-recessive retinitis pigmentosa. Am. J. Hum. Genet. 99: 1305-1315, 2016. [PubMed: 27889058] [Full Text: https://doi.org/10.1016/j.ajhg.2016.10.008]
Dear OMIM User,
To ensure long-term funding for the OMIM project, we have diversified our revenue stream. We are determined to keep this website freely accessible. Unfortunately, it is not free to produce. Expert curators review the literature and organize it to facilitate your work. Over 90% of the OMIM's operating expenses go to salary support for MD and PhD science writers and biocurators. Please join your colleagues by making a donation now and again in the future. Donations are an important component of our efforts to ensure long-term funding to provide you the information that you need at your fingertips.
Thank you in advance for your generous support,
Ada Hamosh, MD, MPH
Scientific Director, OMIM