scholarly journals Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa

2021 ◽  
Vol 22 (5) ◽  
pp. 2374
Author(s):  
Laura Kuehlewein ◽  
Ditta Zobor ◽  
Katarina Stingl ◽  
Melanie Kempf ◽  
Fadi Nasser ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Genetic Testing ◽  
Retinitis Pigmentosa ◽  
Fundus Autofluorescence ◽  
Retinal Disease ◽  
New Drugs ◽  
Autofluorescence Imaging ◽  
Full Field ◽  
Tertiary Referral Center ◽  
The Right

In this retrospective, longitudinal, observational cohort study, we investigated the phenotypic and genotypic features of retinitis pigmentosa associated with variants in the PDE6B gene. Patients underwent clinical examination and genetic testing at a single tertiary referral center, including best-corrected visual acuity (BCVA), kinetic visual field (VF), full-field electroretinography, full-field stimulus threshold, spectral domain optical coherence tomography, and fundus autofluorescence imaging. The genetic testing comprised candidate gene sequencing, inherited retinal disease gene panel sequencing, whole-genome sequencing, and testing for familial variants by Sanger sequencing. Twenty-four patients with mutations in PDE6B from 21 families were included in the study (mean age at the first visit: 32.1 ± 13.5 years). The majority of variants were putative splicing defects (8/23) and missense (7/23) mutations. Seventy-nine percent (38/48) of eyes had no visual acuity impairment at the first visit. Visual acuity impairment was mild in 4% (2/48), moderate in 13% (6/48), and severe in 4% (2/48). BCVA was symmetrical in the right and left eyes. The kinetic VF measurements were highly symmetrical in the right and left eyes, as was the horizontal ellipsoid zone (EZ) width. Regarding the genetic findings, 43% of the PDE6B variants found in our patients were novel. Thus, this study contributed substantially to the PDE6B mutation spectrum. The visual acuity impairment was mild in 83% of eyes, providing a window of opportunity for investigational new drugs. The EZ width was reduced in all patients and was highly symmetric between the eyes, making it a promising outcome measure. We expect these findings to have implications on the design of future PDE6B-related retinitis pigmentosa (RP) clinical trials.

Expanding the retinal phenotype of RP1: from retinitis pigmentosa to a novel and singular macular dystrophy

2019 ◽  
Vol 104 (2) ◽  
pp. 173-181 ◽  
Author(s):  
Marina Riera ◽  
Víctor Abad-Morales ◽  
Rafael Navarro ◽  
Sheila Ruiz-Nogales ◽  
Pilar Méndez-Vendrell ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Retinitis Pigmentosa ◽  
Pigment Epithelium ◽  
Fundus Autofluorescence ◽  
Retinal Pigment ◽  
Retinal Dystrophy ◽  
Macular Dystrophy ◽  
Nucleotide Polymorphisms ◽  
Autofluorescence Imaging ◽  
New Genotype

PurposeThis study aimed to identify the underlying genetic cause(s) of inherited retinal dystrophy (IRD) in 12 families of Kuwaiti origin affected by macular dystrophy and four Spanish patients affected by retinitis pigmentosa (RP).MethodsClinical diagnoses were based on standard ophthalmic evaluations (best-corrected visual acuity, retinography, fundus autofluorescence imaging, optical coherence tomography, electroretinography and visual field tests). Panel-based whole exome sequencing was used to simultaneously analyse 224 IRD genes in one affected member of each family. The putative causative variants were confirmed by Sanger sequencing and cosegregation analyses. Haplotype analysis was performed using single nucleotide polymorphisms.ResultsA homozygous missense mutation c.606C>A (p.Asp202Glu) in RP1 was found to be the molecular cause of IRD in all 12 families from Kuwait. These patients exhibited comparable symptoms, including progressive decline in visual acuity since adolescence. Fundus autofluorescence images revealed bilateral macular retinal pigment epithelium disturbances, with neither perimacular flecks nor peripheral alterations. A shared haplotype spanning at least 1.1 Mb was identified in all families, suggesting a founder effect. Furthermore, RP1 variants involving nonsense and/or frameshifting mutations (three of them novel) were identified in three Spanish autosomal-recessive RP families and one dominant RP pedigree.ConclusionThis study describes, for the first time, a macular dystrophy phenotype caused by an RP1 mutation; establishing a new genotype-phenotype correlation in this gene, expanding its mutation spectrum and further highlighting the clinical heterogeneity associated with IRD.

scholarly journals Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Ine Strubbe ◽  
Caroline Van Cauwenbergh ◽  
Julie De Zaeytijd ◽  
Sarah De Jaegere ◽  
Marieke De Bruyne ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Somatic Mosaicism ◽  
Retinal Disease ◽  
Hair Follicles ◽  
Disease Genes ◽  
Female Carrier ◽  
Autofluorescence Imaging ◽  
Targeted Next Generation Sequencing ◽  
Whole Exome ◽  
Next Generation Sequencing Ngs

AbstractWe describe both phenotype and pathogenesis in two male siblings with typical retinitis pigmentosa (RP) and the potentially X-linked RP (XLRP) carrier phenotype in their mother. Two affected sons, two unaffected daughters, and their mother underwent detailed ophthalmological assessments including Goldmann perimetry, color vision testing, multimodal imaging and ISCEV-standard electroretinography. Genetic testing consisted of targeted next-generation sequencing (NGS) of known XLRP genes and whole exome sequencing (WES) of known inherited retinal disease genes (RetNet-WES). Variant validation and segregation analysis were performed by Sanger sequencing. The mutational load of the RHO variant in the mother was assessed in DNA from leucocytes, buccal cells and hair follicles using targeted NGS. Both affected sons showed signs of classical RP, while the mother displayed patches of hyperautofluorescence on blue light autofluorescence imaging and regional, intraretinal, spicular pigmentation, reminiscent of a carrier phenotype of XLRP. XLRP testing was negative. RetNet-WES testing revealed RHO variant c.404G > C p.(Arg135Pro) in a mosaic state (21% of the reads) in the mother and in a heterozygous state in both sons. Targeted NGQSS of the RHO variant in different maternal tissues showed a mutation load between 25.06% and 41.72%. We report for the first time that somatic mosaicism of RHO variant c.404G > C p.(Arg135Pro) mimics the phenotype of a female carrier of XLRP, in combination with heterozygosity for the variant in the two affected sons.

Wide-Field Fundus Autofluorescence Imaging of Retinitis Pigmentosa

Ophthalmology ◽  
2013 ◽  
Vol 120 (9) ◽  
pp. 1827-1834 ◽  
Author(s):  
Akio Oishi ◽  
Ken Ogino ◽  
Yukiko Makiyama ◽  
Satoko Nakagawa ◽  
Masafumi Kurimoto ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Fundus Autofluorescence ◽  
Wide Field ◽  
Autofluorescence Imaging

Charles Bonnet syndrome as first manifestation of occipital infarction

2022 ◽  
pp. 112067212110697
Author(s):  
Marta Isabel Martínez-Sánchez ◽  
Gema Bolívar
Keyword(s):  
Visual Acuity ◽  
Visual Field ◽  
Field Tests ◽  
Visual Field Loss ◽  
Visual Hallucinations ◽  
Correct Treatment ◽  
Cerebral Magnetic Resonance Imaging ◽  
Full Field ◽  
Charles Bonnet Syndrome ◽  
The Right

Purpose To describe a case of Charles Bonnet syndrome as the first manifestation of occipital infarction in a patient with preserved visual acuity. Observations We report a 78-year-old man followed in our department with a two-month-long history of visual hallucinations based on the vision of flowers and fruits intermittently, being perceived as unreal images. Best-corrected visual acuity was stable in the follow-up time being 20/20 in the right eye and 20/25 in the left eye. Extraocular muscle function testing, pupillary reflexes, biomicroscopy, fundus and optical coherence tomography examinations did not reveal any interesting findings. In order to rule out occipital pathology, orbital-cerebral magnetic resonance imaging was performed, showing an image compatible with the chronic ischemic right occipital lesion. The patient was diagnosed with Charles Bonnet syndrome secondary to occipital infarction and neurology decided that no treatment was required. 24-2 and 10-2 visual field tests showed no remarkable alterations and Full-field 120 point screening test showed nonspecific peripheral defects. Hallucinations improved over the months, being described as not annoying and increasingly infrequent. Conclusions and Importance Charles Bonnet syndrome is a condition characterized by the presence of recurrent and complex visual hallucinations in patients with visual pathway pathologic defects. Visual acuity or visual field loss is not a requirement for diagnosis. Charles Bonnet syndrome should be suspected in all patients with non-disturbing visual hallucinations, even though they present good visual acuteness. It will be essential to perform complementary explorations to identify the underlying pathology that allows the starting of a correct treatment option.

scholarly journals Paediatric case of peripapillary choroidal neovascularisation associated with optic disc drusen treated with aflibercept

2019 ◽  
Vol 12 (1) ◽  
pp. bcr-2018-228134 ◽  
Author(s):  
Weh Loong Gan ◽  
Vernon W Long
Keyword(s):  
Visual Acuity ◽  
Optic Disc ◽  
Rare Complication ◽  
Fundus Autofluorescence ◽  
Choroidal Neovascularisation ◽  
First Case ◽  
Optic Disc Drusen ◽  
Intravitreal Aflibercept ◽  
The Right ◽  
Subfoveal Fluid

Peripapillary choroidal neovascularisation (PPCNV) associated with optic disc drusen is a rare complication that can result in severe vision impairment in children. We report the first case of paediatric PPCNV secondary to optic disc drusen successfully treated with intravitreal aflibercept. A 6-year-old girl presented with a one week history of reduced vision in her right eye with best-corrected visual acuity of 20/500. Fundus examination revealed bilateral elevated discs with a peripapillary pigmentary lesion in the right eye. Optical coherence tomography of the right eye showed marked subfoveal fluid. Both B-scan ultrasonography and fundus autofluorescence demonstrated findings consistent with optic disc drusen. Diagnosis of PPCNV was further confirmed on fluorescein fundus angiography. The child received three intravitreal aflibercept injections with complete resolution of the subfoveal fluid. Her visual acuity improved to 20/25 with no recurrence at a 16-month follow-up. No adverse side effects were reported.

Comparison of Fundus Autofluorescence with Photopic and Scotopic Fine-Matrix Mapping in Patients with Retinitis Pigmentosa and Normal Visual Acuity

2004 ◽  
Vol 45 (11) ◽  
pp. 4119 ◽  
Author(s):  
Anthony G. Robson ◽  
Catherine A. Egan ◽  
Vy A. Luong ◽  
Alan C. Bird ◽  
Graham E. Holder ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Retinitis Pigmentosa ◽  
Fundus Autofluorescence ◽  
Normal Visual Acuity ◽  
Matrix Mapping

scholarly journals Optic Disc Pit with Sectorial Retinitis Pigmentosa

2013 ◽  
Vol 2013 ◽  
pp. 1-5
Author(s):  
Melike Balikoglu-Yilmaz ◽  
Muhittin Taskapili ◽  
Tolga Yilmaz ◽  
Mehmet Yasin Teke
Keyword(s):  
Retinitis Pigmentosa ◽  
Optic Disc ◽  
Fundus Autofluorescence ◽  
Multifocal Electroretinogram ◽  
Clinical Findings ◽  
Optic Disc Pit ◽  
Visual Potential ◽  
History Of ◽  
The Right ◽  
Clinical Conditions

Sectorial retinitis pigmentosa (RP) and optic disc pit (ODP) are rare clinical conditions. We present a 40-year-old woman with a history of mild night blindness and decreased vision in the right eye for about 5 years. Fundus examination revealed retinal pigmentary changes in the superior and inferotemporal sectors covering the macula and reduced arterial calibre and ODP at the temporal edge of the optic disc. In addition, fundus autofluorescence, spectral-domain optical coherence tomography, fluorescein angiography, and multifocal electroretinogram scans confirmed these clinical findings. Visual acuity was decreased due to an atrophic-appearing foveal lesion. No intervention was suggested because of the poor visual potential. To the best of our knowledge, the present study is the first to describe coexistent optic disc pit and sectorial RP in the superior and inferotemporal sectors covering the macula in the same eye with figures.

scholarly journals Type 3 Neovascularization Associated with Retinitis Pigmentosa

2017 ◽  
Vol 8 (1) ◽  
pp. 245-249 ◽  
Author(s):  
Jihene Sayadi ◽  
Alexandra Miere ◽  
Eric H. Souied ◽  
Salomon Y. Cohen
Keyword(s):  
Optical Coherence Tomography ◽  
Visual Acuity ◽  
Retinitis Pigmentosa ◽  
Macular Edema ◽  
Pigment Epithelium ◽  
High Flow ◽  
Type 3 Neovascularization ◽  
Capillary Plexus ◽  
The Right ◽  
Type 3

Purpose: To report a case of type 3 neovascular lesion in a patient with retinitis pigmentosa (RP) complicated by macular edema. Case Report: A 78-year-old man with a long follow-up for RP was referred for painless visual acuity decrease in the right eye. Best-corrected visual acuity was 20/125 in the right eye and 20/40 in the left. Fundus examination showed typical RP and macular edema in both eyes. In the right eye, spectral domain optical coherence tomography revealed a marked cystic macular edema associated with disruption of the Bruch membrane/retinal pigment epithelium complex overlying a pigmentary epithelium detachment, with a vascular structure which appeared to originate from the deep capillary plexus and to be connected with the subretinal pigment epithelium space. Optical coherence tomography angiography showed a high-flow vessel infiltrating the outer retinal layers in the deep capillary plexus segmentation, and a tuft-shaped, bright, high-flow network that seemed to be connected with the subretinal pigment epithelium space in the outer retinal layer segmentation. This presentation was consistent with an early type 3 neovascular lesion in the right eye. Conclusion: Type 3 neovascularization may be considered a possible complication of RP.

scholarly journals Effects of intravitreal aflibercept (Eylea) in the treatment of bilateral cystoid macular edema in retinitis pigmentosa: A case report

2019 ◽  
Vol 72 (5-6) ◽  
pp. 171-175
Author(s):  
Sofija Davidovic ◽  
Sanja Jovanovic ◽  
Nikola Babic ◽  
Aleksandar Miljkovic ◽  
Desanka Grkovic ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Retinitis Pigmentosa ◽  
Macular Edema ◽  
Cystoid Macular Edema ◽  
Intravitreal Therapy ◽  
Short Period ◽  
Patient Reported ◽  
Intravitreal Aflibercept ◽  
Repeated Doses ◽  
The Right

Introduction. The aim of the study was to evaluate the effects of intravireal injections of aflibercept (Eylea) on bilateral cystoid macular edema in a patient with retinitis pigmentosa. Material and Methods. A 17-year-old man presented with a moderate bilateral decrease of visual acuity (0.3) and ocular examination was performed. Optical coherence tomography imaging was performed and cystoid macular edema was detected in both eyes. Due to disease progression in a short period of time, intravitreal repeated injections of aflibercept (Eylea) were initiated according to recent clinical reports. Results. The initial values of cystoid macular edema before intravitreal therapy were 248 ?m in the right and 237 ?m in the left eye; they increased slowly in next several weeks. Four bilateral repeated doses of intravitreal aflibercept injections at 6-week intervals were given in local anesthesia. The patient reported a subjective improvement, and his visual acuity was 4/10 in both eyes. Objectively, the macular edema decreased at week 24, reaching 173 ?m in the right and 188 ?m in the left eye. Conclusion. There are few literature reports on the possible effects of intravitreal aflibercept injections in the treatment of retinitis pigmentosa-related cystoid macular edema. In our study, bilateral macular edema in a patient with retinitis pigmentosa has improved significantly after four consecutive treatments. Further studies are necessary with a larger sample size and longer follow-up period to obtain information on the role and safety of intravitreal drugs for cystoid macular edema in retinitis pigmentosa. <br><br><font color="red"><b> This article has been corrected. Link to the correction <u><a href="http://dx.doi.org/10.2298/MPNS1910326E">10.2298/MPNS1910326E</a><u></b></font>

Retinitis Pigmentosa: Clinical Features, Imaging, and Diagnosis

2021 ◽  
pp. 107-112
Keyword(s):  
Retinitis Pigmentosa ◽  
Vision Loss ◽  
Fundus Autofluorescence ◽  
Visual Field Loss ◽  
Clinical Findings ◽  
Autofluorescence Imaging ◽  
Inherited Retinal Dystrophies ◽  
Retinal Dystrophies ◽  
Central Vision Loss ◽  
Progressive Degeneration

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal dystrophies characterized by progressive degeneration of rod and cone photoreceptors. The worldwide prevalence of the disease is 1/4000. The earliest symptom in RP is most commonly night blindness, followed by concentric visual field loss. Central vision loss occurs later in life due to cone dysfunction. Photoreceptor responses measured with an electroretinogram are reduced or undetectable. Optical coherence tomography shows a progressive loss of outer retinal layers and fundus autofluorescence imaging reveals alteration autofluorescence in a characteristic pattern. Mutations in more than 80 different genes have been associated with non-syndromic RP. The heterogeneity of RP makes it challenging to describe the clinical findings. The objective of this review is to provide an overview of the clinical characteristics and diagnosis of RP.

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