ABSTRACT
Peripapillary capillary network using optical coherence tomography angiography (OCT-A) was analysed in two siblings suffering from dominant optic atrophy linked to OPA-1 gene mutation. Peripapillary capillary network has been scarcely described in this type of optic atrophy.
Subject(s)
Optic Atrophy, Autosomal Dominant , Optic Atrophy , Humans , Optic Atrophy, Autosomal Dominant/diagnosis , Optic Atrophy, Autosomal Dominant/genetics , Mutation , Tomography, Optical Coherence/methods , Siblings , Fluorescein Angiography/methods , GTP Phosphohydrolases/geneticsABSTRACT
We present the case of a 35-year-old female patient, pregnant in her third trimester, with no ophthalmologic history of interest and a medical history of IgA deficiency syndrome with bronchiectasis as the only symptomatology, who came to another center with clinical symptoms of ocular discomfort. She was initially diagnosed with anterior uveitis and treated with topical and periocular corticosteroids. Edema and palpebral erythema appeared a few days later and she was diagnosed with idiopathic orbital inflammation and was treated with intravenous (I.V.) corticosteroids, which led to the appearance of a purulent palpebral and subconjunctival collection with a diagnosis of orbital cellulitis. At this time, she came to our center, where ultrasound and magnetic resonance imaging (MRI) showed intraocular and scleral destructuring with scleral perforation. The subconjunctival abscess was drained, being positive for pseudomonas aeruginosa, and sputum culture was positive for Pseudomonas aeruginosa, so she was diagnosed with endogenous endophthalmitis due to transient Pseudomonas aeruginosa bacteremia in the context of IgA deficiency syndrome and treated with antibiotherapy. Despite the improvement of the infectious clinic, the persistence of positive cultures for pseudomonas aeruginosa and the evolution to phthisis bulbi at 2 months led to definitive treatment with evisceration. To our knowledge, this is the first reported case of endogenous endophthalmitis associated with IgA deficiency and the first reported case of endogenous bacterial endophthalmitis caused by pseudomonas aeruginosa during pregnancy.
Subject(s)
Endophthalmitis , Eye Infections, Bacterial , IgA Deficiency , Pseudomonas Infections , Adult , Anti-Bacterial Agents/therapeutic use , Endophthalmitis/diagnosis , Endophthalmitis/drug therapy , Endophthalmitis/etiology , Eye Infections, Bacterial/microbiology , Female , Humans , IgA Deficiency/complications , IgA Deficiency/drug therapy , Pregnancy , Pseudomonas Infections/diagnosis , Pseudomonas Infections/drug therapy , Pseudomonas Infections/microbiology , Pseudomonas aeruginosaABSTRACT
Achromatopsia is a complex inherited retinal disease that affects the cone cell function. It is usually an autosomal-recessive disease and is characterized by pendular nystagmus, poor visual acuity, lack of color vision, and marked photophobia. CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, and ATF6 gene mutations have been identified as associated with this disease. New diagnostic and therapeutic tools are being studied. Optical coherence tomography and fundus autofluorescence are important imaging techniques that provide significant information about the progression of the disease. The genetic approach for these patients is a current important issue and gene therapy is an ongoing therapeutic option already being studied in clinical trials. The purpose of this review was to survey the current knowledge on diagnosis and treatment options in achromatopsia. [J Pediatr Ophthalmol Strabismus. 2018;55(2):85-92.].
Subject(s)
Color Vision Defects , Color Vision/physiology , Disease Management , Electroretinography/methods , Fluorescein Angiography/methods , Retinal Cone Photoreceptor Cells/pathology , Tomography, Optical Coherence/methods , Color Vision Defects/diagnosis , Color Vision Defects/physiopathology , Color Vision Defects/therapy , Fundus Oculi , Humans , PhenotypeSubject(s)
Brain Stem Neoplasms/secondary , Cavernous Sinus , Eye Neoplasms/pathology , Eyebrows , Neoplasms, Adnexal and Skin Appendage/secondary , Optic Nerve/pathology , Vascular Neoplasms/secondary , Aged , Biopsy , Brain Stem Neoplasms/diagnosis , Diagnosis, Differential , Eye Neoplasms/surgery , Female , Humans , Magnetic Resonance Imaging , Neoplasm Invasiveness , Neoplasms, Adnexal and Skin Appendage/surgery , Ophthalmologic Surgical Procedures/methods , Vascular Neoplasms/diagnosisABSTRACT
Aspergillus niger infection of an exenterated orbit is a very rare occurrence. Treatment includes extensive surgical debridement with socket lavage with 0.6% hydrogen peroxide, oral itraconazole, and local amphotericin B. We describe a case of A. niger infection in an exenterated orbit, unresponsive to local amphotericin B, that was successfully treated with weekly boric acid irrigation. We conclude that local and conservative therapy with 2.5% boric acid solution in 70% ethanol is a useful option in the management of these cases.
