Unprompted Closure of Spontaneous Macular Hole Secondary to Retained Subfoveal Perfluorocarbon LiquidRead the full article
Case Reports in Ophthalmological Medicine publishes case reports and case series related to the anatomy, physiology and diseases of the eye.
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Stellate Nonhereditary Idiopathic Foveomacular Retinoschisis: Cataract Surgery
Purpose. We present the first case described in the literature of cataract surgery in a patient with stellate nonhereditary idiopathic foveomacular retinoschisis (SNIF). Methods. In this case report, we describe the extensive workup we did on our patient, including optical coherence tomography, fundus autofluorescence, fluo-angiography, full field electroretinogram, and genetic testing. We moreover describe the cataract surgery with clear lens extraction and implanting of a multifocal implant. Results. The refractive and lifestyle profile of our patient made implantation of multifocal intraocular implants the only solution for this case. During preoperative measurements, a SNIF diagnosis was suspected after optic coherence tomography imaging which led to an even more extensive workup of our patient and the diagnosis of stellate nonhereditary idiopathic foveomacular retinoschisis. We then proceeded to cataract surgery, which was performed safely and without any sequellae. Conclusion. Stellate nonhereditary idiopathic foveomacular retinoschisis (SNIF) is a relatively new disease entity. Only few cases in the literature describe this disease, and none of them describe cataract surgery in a patient with SNIF. We therefore describe the first known cataract surgery in such a case. Long term follow-up results show that the procedure can be performed safely. Summary Statement. We hereby present the first case described in the literature of cataract surgery of a patient diagnosed with stellate nonhereditary idiopathic foveomacular retinoschisis. A clear lens extraction with implantation of a multifocal intraocular implant was conducted with excellent postoperative results and a happy patient.
Atypical Focal Choroidal Excavation with Macular Hole in a Patient with Alagille Syndrome
This study is aimed at reporting a rare and unusual focal choroidal excavation with a macular hole in a patient with Alagille syndrome (AGS). A 21-year-old woman with an established early-life AGS diagnosis was referred to our hospital prior to liver transplantation. Examination revealed best-corrected visual acuity of 16/20 and 20/20 in the right and left eye, respectively. Slit-lamp examination was positive for posterior embryotoxon in both eyes. Fundoscopy revealed diffuse choroidal hypopigmentation with increased visibility of the choroidal blood vessels and circumferential chorioretinal atrophy in the mid-peripheral and peripheral retina in both eyes. A full-thickness macular hole with underlying focal choroidal excavation was observed in the right eye. Optical coherence tomography through the macula confirmed choroidal excavation with a full-thickness macular hole in the right eye. To our knowledge, this is the first report describing focal choroidal excavation with a macular hole in an AGS patient.
Streptococcus mitis/oralis Corneal Ulcer in a Patient with Severe Rheumatoid Arthritis: An Unusual Route
Purpose. To report a case of Streptococcus mitis oralis (S. mitis/oralis) corneal ulcer in a patient with a possible preventable cause. Methods. Cultures were obtained from a 64-year-old woman with a corneal ulcer with hypopyon in the left eye. Results. Culture reports demonstrated the growth of S. mitis/oralis, a commensal organism of the oral flora. Fortified vancomycin 5% eye drops were started, and the patient was counseled on the rarity of the bacteria as an etiology of corneal ulcers. On the return visit, the patient, who works in a doctor’s office, volunteered information that the preservative free artificial tear vials that she used were difficult to open because of her hand deformity due to rheumatoid arthritis; thus, she had to bite the vials open. Conclusions. S. mitis/oralis is an organism commonly found in the mouth but is rarely found in the eye. We report a unique case of an immunocompromised patient with rheumatoid arthritis, severe dry eye, and a history of multiple episodes of keratolysis, who developed a corneal ulcer from a rare pathogen, with a plausible and preventable route of infection.
Acute Hydrops with Total Corneal Edema in a Very Young Child with Keratoconus: The Youngest Age Reported Case
Purpose. To present the youngest age ever reported for acute corneal hydrops with total corneal edema in a child with advanced bilateral keratoconus. Methods. Patient presentation in ophthalmic clinic. The patient underwent various clinical tests and examinations including anterior segment optical coherence tomography (AS-OCT) and Scheimpflug corneal tomography. Results. A 5-year-old girl presented with uncorrected distance visual acuity (UDVA) of 0.4 in the right eye and nonmeasurable UDVA associated with severe photophobia in her left eye of a 3-day duration. Intraocular pressure using the iCare tonometer was 14 and 5 mmHg in the right and left eyes, respectively. An old corneal hydrops scar and posterior subcapsular cataract (PSC) in the right eye and a total limbus to limbus corneal hydrops in the left eye were observed on slit-lamp examinations. Scheimpflug corneal tomography was possible in the right eye but, due to excessive irregularity and scaring, was not possible in the left eye. Corneal thinning and scarring were evident in the anterior segment optical coherence tomography in the right eye and very edematous cornea associated with stromal cleft and epithelial bullae in the left eye. A management plan consisting of topical hypertonic solution and ointment was started to reduce her symptoms. Conclusion. Acute corneal hydrops may be the presenting sign of keratoconus; however, extensive hydrops involving the total cornea area at a very young age is very rare and has not been previously reported in the literature.
Neovascular Glaucoma from Ocular Ischemic Syndrome Treated with Serial Monthly Intravitreal Bevacizumab and Panretinal Photocoagulation: A Case Report
Purpose. To describe a case of open-angle neovascular glaucoma (NVG) secondary to ocular ischemic syndrome (OIS) treated with a planned series of 6 monthly anti-VEGF injections with interspersed panretinal photocoagulation (PRP) sessions. We term this treatment protocol the Salvaging Conventional Outflow Pathway in Neovascular Glaucoma (SCOPING) Protocol, and this is our (MQ and DS) standard of care for all NVG patients presenting with partially or completely open angles. Case. A 66-year-old man’s right eye had a visual acuity of 20/50, intraocular pressure (IOP) of 42 mmHg on 0 IOP-lowering medications, and neovascularization of the iris and angle with no peripheral anterior synechiae. Fundoscopy revealed midperipheral dot-blot hemorrhages without diabetic retinopathy or vein occlusion. Fluorescein angiography revealed peripheral retinal nonperfusion in both eyes. The patient was diagnosed with open-angle NVG secondary to OIS and treated with 6 serial monthly anti-VEGF injections interspersed with 4 PRP sessions, after which his anterior segment neovascularization regressed and IOP normalized on 0 medications. Ten weeks after the last injection, the anterior segment neovascularization and elevated IOP recurred, so he underwent 4 more monthly anti-VEGF injections and 4 PRP sessions, after which his anterior segment neovascularization regressed and his IOP normalized on 0 medications. However, 6 weeks after the last injection, the anterior segment neovascularization and elevated IOP again recurred, so he was resumed on a third course of lifetime monthly anti-VEGF injections, which may be continued in perpetuity. Conclusion. The patient’s NVG was quiescent while under the protection of serial anti-VEGF injections with interspersed PRP; however, the disease recurred each time injections were stopped. Therefore, in patients with open-angle NVG secondary to OIS, serial monthly anti-VEGF injections may be necessary combined with PRP to suppress underlying neovascular drive and regress anterior segment neovascularization, maintain physiologic IOP, and prevent synechial angle closure.
Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet–Biedl Syndrome
Bardet–Biedl syndrome is a rare autosomal recessive form of syndromic obesity which is characterized by retinal degeneration, obesity, polydactyly, cognitive impairment, and renal and urogenital anomalies. In this study, we used whole-exome sequencing (WES) to investigate the underlying mutations in four Iranian children from consanguineous families with a clinical diagnosis of Bardet–Biedl syndrome (BBS). In three out of four children, we identified one previously reported frameshifting variant in the BBS12 gene (c.265-266delTT, p.L89fs) and two novel nonsense variants in MKKS (c.1196T>G, p.L399X) and BBS7 genes (c.1636C>T, p.Q546X). In the other child, no mutations were detected in known genes for BBS. However, we identified a novel variant in the ALMS1 gene (c.10996delC, p.Q3666fs) indicative of Alström syndrome. All variants were interpreted as pathogenic according to American College of Medical Genetics and Genomics (ACMG) guidelines and confirmed through Sanger sequencing. In conclusion, our results not only expand the spectrum of mutations in BBS and ALMS1 genes but also accentuate the importance of genetic testing for differentiating BBS from Alström syndrome.