Autosomal Dominant Occult Macular Dystrophy with an RP1L1 Mutation (R45W)

Abstract

The clinical phenotypes differed between the proband and her mother and were indistinguishable from other sporadic or RP1L1-unassociated OMD patients, suggesting that mutation-dependent clinical features may not be present.

Improvement of central visual function following steroid pulse therapy in acute zonal occult outer retinopathy

“…3a). We also performed focal macular electroretinography (fmERG) using an infrared fundus camera with a stimulus light and background illumination (ER-80; Kowa Company, Tokyo, Japan) in accordance with a previously described method [5,6]. Results showed there were non-detectable responses at 5°, 10°and 15°(in diameter) in the left eye (Fig.…”

Phenotype Variations Caused by Mutations in theRP1L1Gene in a Large Mainly German Cohort

“…[11][12][13][14] In 2010, Akahori et al 1 successfully linked the disorder to chromosome 8 and the RP1L1 gene. So far, a limited number of dominant mutations and variants of uncertain significance have been identified: most important is p.R45W, 1,3,4,15,16 which is recurrently found in all populations irrespective of ethnic descent, and indicative for a mutation hotspot, but also other missense variants have been discussed. 1,2,17 However, in addition to autosomal dominant pedigrees, sporadic cases have also been reported, 9,18 indicating de novo mutations but also reduced penetrance.…”

NovelRP1L1Variants and Genotype–Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular Dystrophy

“…3,11,13 Since the discovery of the causative RP1L1 mutations in patients with OMD, a number of OMD cases with RP1L1 mutations have been reported. 7,8,[14][15][16][17][18][19] The most common mutation is c.133C>T, p.Arg45Trp in exon 2. 7,8,10,15,[17][18][19] In addition, extensive retinal dysfunction such as generalized cone dysfunction and generalized rod-cone dysfunction has been documented in patients with biallelic RP1L1 gene aberrations.…”