Department of Oral and Maxillofacial Surgery, School of Dentistry, Pusan National University, Yangsan, Korea; (Bio)medical Research Institute, Pusan National University Hospital, Busan, Korea.
Department of Oral and Maxillofacial Surgery, School of Dentistry, Pusan National University, Yangsan, Korea; Institute of Translational Dental Sciences & Dental Research Institute, Pusan National University, Yangsan, Korea. Electronic address: Omsljy@pusan.ac.kr.
Pain Research, MSk Lab, Department of Surgery and Cancer, Imperial College, London, United Kingdom.
Division of Neurological Pain Research and Therapy, Department of Neurology, University Hospital Schleswig-Holstein, Campus Kiel, Germany.
Department of Anaesthesiology, Intensive Care and Pain Medicine, University Hospital Muenster, Münster, Germany.
Department of Neurophysiology, Mannheim Center for Translational Neuroscience MCTN, Medical Faculty Mannheim, Ruprecht Karls University, Heidelberg, Germany.
INSERM U-987, Centre d'Evaluation et de Traitement de la Douleur, CHU Ambroise Paré, Boulogne-Billancourt, France, Université Versailles-Saint-Quentin, Versailles, France.
INSERM U-987, Centre d'Evaluation et de Traitement de la Douleur, CHU Ambroise Paré, Boulogne-Billancourt, France, Université Versailles-Saint-Quentin, Versailles, France.
To describe the genetic and clinical spectrum of GUCY2D-associated retinopathies and to accurately establish their prevalence in a large cohort of patients....
Retrospective case series....
Institutional study of 47 patients from 27 unrelated families with retinal dystrophies carrying disease-causing GUCY2D variants from the Fundación Jiménez Díaz hospital dataset of 8000 patients. Patie...
Four clinically different associated phenotypes were identified: 66.7% of families with cone/cone-rod dystrophy, 22.2% with Leber congenital amaurosis, 7.4% with early-onset retinitis pigmentosa, and ...
This study represents the largest GUCY2D cohort in which 4 distinctly different phenotypes were identified, including rare intermediate presentations of rod-dominated retinopathies. We established tha...
To describe the natural history of autosomal dominant (AD) GUCY2D-associated cone-rod dystrophies (CRDs), and evaluate associated structural and functional biomarkers....
Retrospective analysis was conducted on 16 patients with AD GUCY2D-CRDs across two sites. Assessments included central macular thickness (CMT) and length of disruption to the ellipsoid zone (EZ) via o...
At first visit, with a mean age of 30 years (range 5-70 years), 12 patients had a BCVA below Australian driving standard (LogMAR ≥ 0.3 bilaterally), and 1 patient was legally blind (LogMAR ≥ 1). Longi...
We have described the natural long-term decline in vision and cone function associated with mutations in GUCY2D and identified a set of functional and structural biomarkers that may be useful as outco...
Mutations in the peripherin-2 gene (PRPH2) are a common cause of inherited retinal dystrophies well known for their phenotypic diversity. We describe a novel presentation of the c.623G > A; p.(Gly208A...
A 39-year-old man presents with a history of decreased visual acuity, photophobia, and dyschromatopsia. Fundus examination was largely unremarkable while spectral-domain optical coherence tomography (...
This case report broadens the known phenotypic presentations of PRPH2-associated retinopathy and suggests that the PRPH2 variant c.623G > A; p.(Gly208Asp) may be associated with reduced penetrance....
Cone-rod dystrophies (CORDs) are a heterogeneous group of inherited retinopathies (IRDs) with more than 30 already known disease-causing genes. Uncertain phenotypes and extended range of intra- and in...
Progressive inherited retinal degenerations (IRDs) affecting rods and cones are clinically and genetically heterogeneous and can lead to blindness with limited therapeutic options. The major gene defe...
Genome, targeted next-generation and Sanger sequencing was applied to cohort of ∼4000 IRDs cases. Expression analyses were performed including Chip-seq database analyses, on human-derived retinal orga...
Here we identified a novel gene defect with three distinct pathogenic variants in UBAP1L in four independent autosomal recessive IRD cases from Tunisia. UBAP1L is expressed in the RPE and retina, spec...
Biallelic UBAP1L variants are a novel cause of IRDs, most likely enriched in the North African population....
To describe cases of unilateral cone-rod dysfunction presenting in two middle-aged females....
This case series highlights two middle-aged female patients with progressive visual decline in one eye. Fundus photography, fundus autofluorescence (FAF), spectral-domain optical coherence tomography ...
In the first patient, mfERG showed an extinguished response and ffERG demonstrated markedly reduced a-wave and b-wave amplitudes (more pronounced under photopic conditions) in the right eye. SD-OCT sh...
These two cases add to the literature of case reports of unilateral cone-rod and rod-cone dystrophies. However, the underlying etiology of the unilateral pattern of cone-rod dysfunction and the signif...
A 38-year-old patient presented with decreased vision and was found to have right sided facial port-wine stain, telangiectasia of episcleral vessels, and posterior subcapsular cataract. Both eyes show...
To investigate the clinical characteristics and genetic spectrum of adult-onset cone/cone-rod dystrophy (AOCD/AOCRD) in Korean individuals....
This is single center, retrospective cross-sectional study. We analyzed 22 individuals with genetically confirmed cone dystrophy, with symptoms beginning after 30 years of age. All patients underwent ...
The median age at the first visit was 52 years (range, 31 to 76 years), and the most common initial symptom was reduced visual acuity. In most cases, fundus photography showed a bull's eye pattern wit...
In case of visual impairment with bull's eye pattern of RPE atrophy recognized after the middle age, a comprehensive ophthalmic examination and genetic test should be considered, with the possibility ...
Inherited retinal diseases (IRD) are a leading cause of blindness in the working age population and children. The scope of this review is to familiarise clinicians and scientists with the current land...
To report a patient with Shwachman-Diamond syndrome and concomitant rod-cone dystrophy who underwent bone marrow transplantation....
Retrospective single case report....
A female patient with Shwachman-Diamond syndrome was referred to a tertiary hospital to investigate possible pigmentary retinopathy at the age of 16. She described poor night vision and was found to h...
We report a patient with Shwachman-Diamond syndrome with severe early-onset rod-cone dystrophy noted at the age of 16. Slow anatomical progression has been observed over the subsequent ten years, with...
