Polypoidal choroidal vasculopathy in a patient with DMPK-associated myotonic dystrophy.

BACKGROUND: Myotonic dystrophy type 1 (DM1) is an autosomal dominant genetic disorder that affects multiple organs, including the muscle and eye, caused by a CTG triplet expansion of the 3' untranslated region (UTR) of the DMPK gene. Cataracts and retinal degeneration are major eye complications in patients with DM1. We reported the case of a Japanese patient with DM1 who exhibited submacular hemorrhage unilaterally, rarely complicating DM1. CASE REPORT: A 56-year-old woman presented with loss of visual acuity in the left eye (LE). The patient was diagnosed with DM1, who carried expanded CTG repeats (1100) of the 3' UTR of DMPK. Her corrected visual acuities were 20/100 and 20/2000 in the right eye (RE) and LE, respectively. Cataracts were observed in both eyes. Fundoscopy and angiography revealed submacular hemorrhage in the LE due to polypoidal choroidal vasculopathy (PCV, also known as aneurysmal type 1 neovascularization). The patient underwent intravitreal injections of an anti-vascular endothelial growth factor drug and sulfur hexafluoride gas in the LE. Full-field electroretinography was performed, showing that the rod and standard-flash responses were reduced to 50% and below 10% in the RE and LE, whereas the cone and 30-Hz flicker responses were reduced to 40-50% and 15-20% in the RE and LE, respectively, compared with the controls. Multifocal electroretinography revealed that the overall responses were extinguished in the LE and considerably attenuated in the RE. CONCLUSIONS: This is the first patient with DM1 complicated with PCV. Widespread retinal dysfunction may be associated with expanded CTG repeats, which is significantly longer than the mean repeat number of patients with DM1.

Refractive error induced by intraocular lens tilt after intrascleral intraocular lens fixation.

PURPOSE: To investigate the spherical shift of intraocular lens (IOL) tilt after intrascleral fixation. METHODS: We retrospectively reviewed the medical records of patients who underwent flanged intrascleral IOL fixation with transconjunctival 25- or 27-gauge pars plana vitrectomy at the Department of Ophthalmology of the Jikei University Hospital. The minimum follow-up duration was 3 months. Second-generation anterior segment optical coherence tomography (CASIA2; TOMEY) was used to obtain the values of tilt and decentration of the intrasclerally fixated IOL and postoperative anterior chamber depth. We investigated the relationship between refractive error and various parameters, such as IOL tilt and decentration, axial length, and keratometry. In addition to our clinical investigation, we conducted optical simulations using Zemax to evaluate the spherical shift of the IOL tilt by means of the through-focus response and change in spherical equivalent power. RESULTS: The study involved 72 eyes of 67 patients. The degree of IOL tilt was correlated with the amount of refractive error (Spearman's rank correlation coefficient [CC] = - 0.32; P = 0.006). In particular, a tilt angle greater than 10° strongly affected the refractive error. The postoperative anterior chamber depth also correlated with the refractive error (CC = 0.50; P < 0.001), as opposed to decentration (CC = - 0.17; P = 0.15), axial length (CC = - 0.08; P = 0.49), and keratometry (CC = - 0.06; P = 0.64). Optical simulations also revealed a myopic shift that exponentially increased as the tilt became greater. CONCLUSION: IOL tilts that are greater than 10° induce refractive error.

Dysthyroid Optic Neuropathy Complicated by Neuromyelitis Optica Spectrum Disorder: A Case Report.

Introduction: Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune disorder that principally targets the central nervous system, specifically the spinal cord and optic nerves. NMOSD is often associated with thyroid pathologies such as Graves' disease or Hashimoto's thyroiditis. Thyroid eye disease (TED) is an autoimmune condition characterized by inflammation and hypertrophy of the extraocular muscles. Dysthyroid optic neuropathy (DON), a critical complication of TED, may lead to irreversible visual loss. We report a case of DON complicated by NMOSD. Case Presentation: We report a case of an autoimmune disease presenting as DON in a 44-year-old Japanese woman with a history of Graves' disease, who experienced reduced visual acuity and orbital pain. Brain magnetic resonance imaging disclosed hypertrophy of the rectus muscles, compressing the optic nerve bilaterally. Consequently, she was diagnosed with DON and underwent three courses of steroid semi-pulse therapy and left orbital decompression surgery, alleviating optic nerve compression. Nevertheless, the visual prognosis remained poor. A subsequent serological test showed positive for aquaporin-4 antibody. Treatment with satralizumab, an interleukin-6 receptor monoclonal antibody, was initiated in conjunction with steroids to suppress the autoimmune response and reduce NMOSD relapse risk. Following this treatment, no NMOSD recurrences were reported. Conclusion: This case highlights the necessity of considering the possible coexistence of DON and NMOSD in patients with autoimmune diseases.