Retinitis Pigmentosa 76 Clinical CharacteristicsOcular Features: Onset of night blindness occurs early in the second decade of life. Vision is in the range of 20/40 to 20/100 in the first decades worsens slowly but there is a wide range. Some older individuals may have hand motion vision in at least one eye but some retain 20/40. All patients have peripheral field restrictions and some have pallor of the optic disc. Retinal vessels are attenuated. Fundus pigmentation is usually abnormal with some combination of bone spicule and diffuse salt and pepper pigmentation. The macula is usually involved with a flat fovea, cystoid macular edema, and chorioretinal atrophy. Retinal thinning is seen on OCT. The ERG can be flat but in some individuals the rod responses are primarily reduced. Systemic Features: No systemic abnormalities have been associated. GeneticsHomozygous or compound heterozygous mutations in the POMGNT1 gene (1p34) are responsible for this disorder. Pedigree: Autosomal recessiveTreatmentTreatment Options: No effective treeatment is available. ReferencesArticle Title: Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa Wang NH, Chen SJ, Yang CF, Chen HW, Chuang HP, Lu YH, Chen CH, Wu JY, Niu DM, Chen YT. Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa. Invest Ophthalmol Vis Sci. 2016 Jul 1;57(8):3601-9. PubMed ID: 27391550 Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa Xu M, Yamada T, Sun Z, Eblimit A, Lopez I, Wang F, Manya H, Xu S, Zhao L, Li Y, Kimchi A, Sharon D, Sui R, Endo T, Koenekoop RK, Chen R. Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa. Hum Mol Genet. 2016 Apr 15;25(8):1479-88. PubMed ID: 26908613 Read more about Retinitis Pigmentosa 76
Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa Wang NH, Chen SJ, Yang CF, Chen HW, Chuang HP, Lu YH, Chen CH, Wu JY, Niu DM, Chen YT. Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa. Invest Ophthalmol Vis Sci. 2016 Jul 1;57(8):3601-9. PubMed ID: 27391550
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa Xu M, Yamada T, Sun Z, Eblimit A, Lopez I, Wang F, Manya H, Xu S, Zhao L, Li Y, Kimchi A, Sharon D, Sui R, Endo T, Koenekoop RK, Chen R. Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa. Hum Mol Genet. 2016 Apr 15;25(8):1479-88. PubMed ID: 26908613
