Case report of an atypical early onset X-linked retinoschisis in monozygotic twins [PDF]
, 2017 BACKGROUND: X-linked Retinoschisis (XLRS) is one of the most common macular degenerations in young males, with a worldwide prevalence ranging from 1:5000 to 1:20000.
Andrea Sodi +8 more
core +1 more source
Retinal detachment and retinoschisis associated with optic disc pit in peripapillary staphyloma
American Journal of Ophthalmology Case Reports, 2022 Purpose: To determine the characteristics and clinical course of an eye with a peripapillary staphyloma and an optic disc pit associated with a retinal detachment (RD) and retinoschisis.
Kana Okano +3 more
doaj +1 more source
Case report: Autosomal recessive bestrophinopathy with macular cysts and MNV over 13-year follow-up
Frontiers in Genetics, 2022 Purpose: To describe the phenotype and genotype of a patient with autosomal recessive bestrophinopathy (ARB) over a 13-year follow-up period.Methods: The phenotype of the subject was described after a complete ophthalmological examination, which included
Lei Zhang +5 more
doaj +1 more source
Classifications of vitreomacular traction syndrome: diameter vs morphology [PDF]
, 2014 Purpose the aim of this study is to analyze the agreement between the classifications based on morphology and diameter of vitreomacular traction (VMT) syndrome, as well as to correlate the morphological findings of VMT with specific maculopathies.Methods
Bottos, Juliana +4 more
core +2 more sources
Multimodal imaging in retinoschisis
Oman Journal of Ophthalmology, 2019 Retinoschisis is characterized by abnormal splitting of neurosensory retina. We demonstrate imaging of retinoschisis with multiple modalities.
B Poornachandra +3 more
doaj +1 more source
Diferentes apresentações das coleções de líquido intra-retiniano nas fossetas do disco óptico: estudo de 3 casos com OCT [PDF]
, 2006 The congenital optic disc pit is a rare anomaly that can lead to major visual impairment associated with subretinal fluid accumulation. The authors describe the optical coherence tomography study of three cases of untreated congenital optic disc pits ...
Brasil, Maria Vitoria Oliveira Moura +2 more
core +2 more sources
X-linked Juvenile Retinoschisis in a Young Female
Journal of Nepal Health Research Council, 2022 X-linked juvenile retinoschisis has recessive inheritance which occurs due to RS1 gene mutation. We report an instance in a female managed with systemic and topical carbonic-anhydrase inhibitors.
Sudha Ranabhat +2 more
doaj +1 more source
Rett Syndrome: Revised diagnostic criteria and nomenclature [PDF]
, 2010 Objective: Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in Methyl-CpG-binding protein 2 (MECP2). Despite distinct clinical features, the accumulation
Amir +24 more
core +1 more source
Ophthalmic ResearchIntroduction: The outcomes and prognosis of pars plana vitrectomy (PPV) for high myopia-epiretinal membrane (HM-ERM) patients with retinoschisis remains unclear.
Xiao Feng +6 more
doaj +1 more source
Singleton birth after preimplantation genetic diagnosis for Huntington disease using whole genome amplification [PDF]
, 2009 Objective: To report a successful case of preimplantation genetic diagnosis (PGD) for Huntington disease using whole genome amplification. Design: Case report. Setting: University assisted reproduction unit.
Chow, JFC +6 more
core +1 more source