Novel Phenotypic and Genotypic Findings in X-Linked Retinoschisis

Abstract

To describe atypical phenotypes associated with the retinoschisis (X-linked, juvenile) 1 mutation (RS1). Methods: Seven patients with multiple fine white dots at the macula and reduced visual acuity were evaluated. Six patients underwent pattern and full-field electroretinography (ERG). On-off ERG, optical coherence tomography, and fundus autofluorescence imaging were performed in some patients. Mutational screening of RS1 was prompted by the ERG findings. Results: Fine white dots resembling drusenlike deposits and sometimes associated with retinal pigment epithelial abnormalities were present in the maculae. An electronegative bright-flash ERG configuration was present in all patients tested, and abnormal pattern ERG findings confirmed macular dysfunction. A parafoveal ring

Mutations in the XLRS1 gene in Thai families with X-linked juvenile retinoschisis

“…19 None of their p.R213W mutation patients showed electronegative ERG results, similar to the fi ndings of Sieving et al 20 Our second proband with the p.R213W mutation developed multiple fi ne white dots resembling drusen-like lesions at the macula. This uncharacteristic phenotype in XLRS was also recently reported by Tsang et al 21 The ERG results of our patient showed nonrecordable scotopic blue fl ash responses and moderately decreased a-and b-wave amplitudes in photopic responses and 30-Hz fl ickers.…”

Mutations in the XLRS1 gene in Thai families with X-linked juvenile retinoschisis

“…19 None of their p.R213W mutation patients showed electronegative ERG results, similar to the fi ndings of Sieving et al 20 Our second proband with the p.R213W mutation developed multiple fi ne white dots resembling drusen-like lesions at the macula. This uncharacteristic phenotype in XLRS was also recently reported by Tsang et al 21 The ERG results of our patient showed nonrecordable scotopic blue fl ash responses and moderately decreased a-and b-wave amplitudes in photopic responses and 30-Hz fl ickers.…”

Functional correlates of fundus autofluorescence abnormalities in patients with RPGR or RIMS1 mutations causing cone or cone rod dystrophy

“…Similar AF abnormalities have been reported in a number of other conditions including autosomal dominant and recessive rod–cone dystrophy (see below),12 – 16 Bull’s eye maculopathy,8 Leber congenital amaurosis,30 X-linked retinoschisis,31 Best macular dystrophy11, and forms of autosomal dominant cone and cone–rod dystrophy consequent upon mutation in GUCY2D 32 or GUCA1A 33. The AF abnormality is a non-specific manifestation suggesting increased metabolic load at an intermediate stage before cell loss and atrophy 1 2 13…”

ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT

“…Since then, this imaging method has become an important tool in the diagnosis of retinal diseases [46]. To date, only a few studies have been reported FAF findings in RS [47,48]. Our eight patients showed almost the same pattern of FAF changes in the fovea as demonstrated by Wabbels et al The relatively specific pattern of central FAF changes in RS could serve as clinically useful hallmarks for diagnosing the disease.…”

Mutations in the XLRS1 gene in Thai families with X-linked juvenile retinoschisis

“…19 None of their p.R213W mutation patients showed electronegative ERG results, similar to the fi ndings of Sieving et al 20 Our second proband with the p.R213W mutation developed multiple fi ne white dots resembling drusen-like lesions at the macula. This uncharacteristic phenotype in XLRS was also recently reported by Tsang et al 21 The ERG results of our patient showed nonrecordable scotopic blue fl ash responses and moderately decreased a-and b-wave amplitudes in photopic responses and 30-Hz fl ickers.…”

Functional correlates of fundus autofluorescence abnormalities in patients with RPGR or RIMS1 mutations causing cone or cone rod dystrophy

“…Similar AF abnormalities have been reported in a number of other conditions including autosomal dominant and recessive rod–cone dystrophy (see below),12 – 16 Bull’s eye maculopathy,8 Leber congenital amaurosis,30 X-linked retinoschisis,31 Best macular dystrophy11, and forms of autosomal dominant cone and cone–rod dystrophy consequent upon mutation in GUCY2D 32 or GUCA1A 33. The AF abnormality is a non-specific manifestation suggesting increased metabolic load at an intermediate stage before cell loss and atrophy 1 2 13…”

ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT

“…Since then, this imaging method has become an important tool in the diagnosis of retinal diseases [46]. To date, only a few studies have been reported FAF findings in RS [47,48]. Our eight patients showed almost the same pattern of FAF changes in the fovea as demonstrated by Wabbels et al The relatively specific pattern of central FAF changes in RS could serve as clinically useful hallmarks for diagnosing the disease.…”

Mutations in the XLRS1 gene in Thai families with X-linked juvenile retinoschisis

“…19 None of their p.R213W mutation patients showed electronegative ERG results, similar to the fi ndings of Sieving et al 20 Our second proband with the p.R213W mutation developed multiple fi ne white dots resembling drusen-like lesions at the macula. This uncharacteristic phenotype in XLRS was also recently reported by Tsang et al 21 The ERG results of our patient showed nonrecordable scotopic blue fl ash responses and moderately decreased a-and b-wave amplitudes in photopic responses and 30-Hz fl ickers.…”

Functional correlates of fundus autofluorescence abnormalities in patients with RPGR or RIMS1 mutations causing cone or cone rod dystrophy

“…Similar AF abnormalities have been reported in a number of other conditions including autosomal dominant and recessive rod–cone dystrophy (see below),12 – 16 Bull’s eye maculopathy,8 Leber congenital amaurosis,30 X-linked retinoschisis,31 Best macular dystrophy11, and forms of autosomal dominant cone and cone–rod dystrophy consequent upon mutation in GUCY2D 32 or GUCA1A 33. The AF abnormality is a non-specific manifestation suggesting increased metabolic load at an intermediate stage before cell loss and atrophy 1 2 13…”

ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT

“…Since then, this imaging method has become an important tool in the diagnosis of retinal diseases [46]. To date, only a few studies have been reported FAF findings in RS [47,48]. Our eight patients showed almost the same pattern of FAF changes in the fovea as demonstrated by Wabbels et al The relatively specific pattern of central FAF changes in RS could serve as clinically useful hallmarks for diagnosing the disease.…”