Bilateral self-inflicted infectious dacryoadenitis.

The aim of this report is to present a case of a patient with bilateral lacrimal gland abscesses in the course of dacryoadenitis. A 45-year-old female patient with a long history of cocaine abuse presented with bilateral bacterial dacryoadenitis and upper lid inflammation with purulent discharge from a palpebral wound of the right upper lid. The diagnosis was confirmed with microbiology culture and an orbital CT scan, which revealed lacrimal gland abscesses. The patient admitted to vigorous eye scratching, which we believe was the mechanism responsible for the process. The infection resolved on targeted antibiotic therapy. This is the first reported case of bilateral infectious dacryoadenitis produced in a self-inflicted mechanism in a cocaine addict.

Multimodal retinal imaging of familial amyloid polyneuropathy.

Background: Retinal amyloid angiopathy is a sight-threatening complication of familial amyloid polyneuropathy (FAP) caused by pathological deposition of transthyretin. The purpose of this report is to present ocular findings in patients with FAP using a combination of novel non-invasive retinal imaging techniques, including first time published images of optical coherence tomography angiography (OCT-A) in FAP.Materials and methods: Observational cross-sectional study of retinal images in patients with FAP using: fundus ultra wide-field photography (UWF); autofluorescence (AF); optical coherence tomography (OCT); and, OCT-A. Fifteen eyes of eight patients with FAP from a tertiary center were included. A descriptive analysis of obtained images and clinical data was performed.Results: Amyloid vitreous and retinal deposits were easily identified using OCT scans, AF, and UWF images, especially in the red-free modality. OCT-A allowed quality reconstruction of posterior pole vasculature, foveal avascular zone, and areas of ischemia.Conclusions: Different modalities of currently available non-invasive retinal imaging techniques, including OCT-A scans described for the first time in FAP, are safe and useful in detecting and analyzing retinal amyloidosis. Retinopathy in FAP in the studied group was more frequent than previously reported.

A novel mutation in the dominantly inherited TOPORS gene supports haploinsufficiency as the mechanism of retinitis pigmentosa.

BACKGROUND: Inherited retinal degenerations are a major cause of untreatable blindness in the younger age group. Recent advances in gene therapy using adeno-associated viral (AAV) vectors have raised the possibility of slowing or stopping retinal degenerations with gene replacement in cases of gene deficiency. MATERIALS AND METHODS: In this report, we present a family with autosomal dominant retinitis pigmentosa. A screen for common ADRP genes was performed with 105 genes targeted. Next generation sequencing was used to identify the mutation which was next confirmed by bidirectional Sanger sequencing. RESULTS: A novel mutation of the TOPORS gene was identified, c.2539C>T p.(Arg847Ter), resulting in a premature termination codon and suggesting haploinsufficiency as the pathological mechanism. CONCLUSIONS: Since the cDNA encoding TOPORS is 3,135 nucleotides (within the coding capacity of AAV vectors) and haploinsufficiency is a mechanism relating to inadequate gene expression, gene replacement therapy may be an option for patients with this condition.

Botulinum toxin for treating unilateral apraxia of eyelid opening in a patient with congenital myotonia.

A 37-year-old female presented with severe apraxia of lid opening (ALO) affecting the right upper lid associated with Becker congenital myotonia (MC). The patient had a history of right upper lid ptosis for 25 years that was exacerbated over the previous month with severe incapacity to open her right eye. No other associated neurological or ophthalmic symptoms were observed. The patient was treated with botulinum toxin (BoNT-A) injection into the pretarsal and lateral canthus region of the orbicularis oculi of the affected eyelid. Treatment with BoNT-A is an effective method of managing ALO in Becker MC. This is the first case of unilateral ALO in the course of Becker MC that was successfully treated with injections of botulinum toxin.

Marfan syndrome: ocular findings and novel mutations-in pursuit of genotype-phenotype associations.

OBJECTIVE: To analyze ocular involvement in patients diagnosed with Marfan syndrome (MFS), study their clinical findings and prognosis based on the type of FBN1 mutation, and evaluate possible genotype-phenotype correlations. DESIGN: Observational single-centre case series. PARTICIPANTS: Eleven patients diagnosed with MFS were included. All subjects met the Ghent criteria of MFS, the diagnosis was confirmed by genetic testing. METHODS: All subjects underwent a complete ophthalmologic examination. We evaluated clinical data, the incidence of ectopia lentis (EL), and other eye disorders. The association of ocular signs with the type of mutation was analyzed. RESULTS: Four of the 11 patients had EL, of which 3 developed secondary glaucoma, and 62.5% of the phakic patients had myopia. Other ocular abnormalities included strabismus, retinal tears, retinal detachment, and amblyopia. The encountered types of mutations were premature termination codon (PTC) in 7 patients, missense in 2 cases, 1 aberration of splicing, and 1 indel mutation. Two novel mutations were found. Of the patients with EL, 2 had a missense, 1 an indel, and 1 a nonsense mutation. CONCLUSIONS: Myopia was the most frequent ocular involvement. Patients with a PTC mutation revealed to have a smaller risk of EL; however, more studies are required to indicate the mechanism of the correlation.

Immunostaining images of vitreous transthyretin amyloid.

OBJECTIVE: The purpose of this report is to present the diagnosis of familial amyloid polyneuropathy (FAP) based on vitreous biopsy and to demonstrate immunohistochemical images of transthyretin amyloid protein from vitreous samples. DESIGN: Retrospective case series. METHODS: Retrospective review of clinical charts of patients with FAP who underwent vitrectomy for vitreous opacities and had immunostaining performed on the vitreous specimens. PARTICIPANTS: Three patients were selected for the study: 2 patients had already been diagnosed with FAP, and in 1 of the patients the vitreous sample served to establish the diagnosis of FAP. RESULTS: Pathology examination of the vitreous specimens confirmed the presence of amyloid with positive Congo red staining, and transthyretin was identified with immunolabeling techniques. In this report, we present immunohistochemical staining images of transthyretin deposits in the vitreous tissues. CONCLUSIONS: Transthyretin amyloidosis is usually confirmed with positive Congo red staining for amyloid identified by biopsy of peripheral nerves, salivary glands, or abdominal fat. Ocular manifestation of FAP typically appears years after the onset of the disease, and therefore eye tissue specimens usually are not subject to diagnostic biopsies or transthyretin identification. However, in patients with negative systemic tissue biopsies or early ocular involvement, transthyretin identification from samples obtained during vitrectomy may be useful in establishing the diagnosis, and we present the first immunohistochemical images of transthyretin amyloid of vitreous origin, which confirm the elevated deposition of the altered protein in ocular tissues in FAP.

Nonpenetrating deep sclerectomy as an effective treatment of glaucoma related to familial amyloid polyneuropathy.

PURPOSE: To present the clinical course and treatment by nonpenetrating deep sclerectomy (NPDS) of open-angle glaucoma secondary to familial amyloid polyneuropathy (FAP). PATIENTS AND METHODS: In a series of 10 patients with FAP in a tertiary ophthalmology center, 4 eyes of 3 patients required glaucoma filtration surgery and NPDS with implant, and local intraoperative mitomycin C application was performed. Intraocular pressure and anatomic bleb functionality were measured. We performed a retrospective review of data from medical charts of the 10 FAP patients, which included demographics, incidence and treatment of glaucoma, and previous vitrectomy. RESULTS: NPDS resulted in normalization of intraocular pressure in all 4 eyes. Ten eyes (6 patients) of the studied group underwent vitrectomy because of amyloid opacities, 7 eyes (4 patients) had glaucoma, 6 of the eyes with glaucoma were previously vitrectomized, and 4 of them subsequently required glaucoma surgery. CONCLUSIONS: NPDS is an effective treatment of FAP glaucoma. Previously vitrectomized eyes have a more severe course of glaucoma and more frequently require filtration surgery.

Botulinum toxin for treating unilateral apraxia of eyelid opening in a patient with congenital myotonia / Tratamento da apraxia de abertura palpebral unilateral em portador de miotonia congênita com botulinum toxin

ABSTRACT A 37-year-old female presented with severe apraxia of lid opening (ALO) affecting the right upper lid associated with Becker congenital myotonia (MC). The patient had a history of right upper lid ptosis for 25 years that was exacerbated over the previous month with severe incapacity to open her right eye. No other associated neurological or ophthalmic symptoms were observed. The patient was treated with botulinum toxin (BoNT-A) injection into the pretarsal and lateral canthus region of the orbicularis oculi of the affected eyelid. Treatment with BoNT-A is an effective method of managing ALO in Becker MC. This is the first case of unilateral ALO in the course of Becker MC that was successfully treated with injections of botulinum toxin.

RESUMO Trata-se de uma mulher de 37 anos apresentando grave apraxia de abertura da pálpebra (AAP) superior direita associada com miotomia congênita de Becker (MC). A paciente há 25 anos apresentava ptose palpebral a direita e há um mês desenvolveu incapacidade de abertura do olho direito. Não havia associação com outro sintoma neurológico ou oftalmológico. A paciente recebeu injeção de botulinum toxin (BoNT-A) no músculo orbicular a direita, na região pretarsal e no canto lateral. A BoNT-A foi efetiva para o tratamento da AAP associada com miotomia congênita de Becker.