Leber congenital amaurosis: disease, genetics and therapy.

Abstract:

:Leber congenital amaurosis (LCA) is a congenital retinal dystrophy that was first described almost 150 years ago. LCA still remains an important cause of blindness with about 20% of children in schools for the blind being affected by it. LCA has genetic heterogeneity and the study of this disease is elucidating the genetics and molecular interactions involved in the development of the retina. This paper reviews the clinical history of the disease since it was first described. We further discuss the differential diagnosis of the disease and the difficulties encountered in making the diagnosis. We also review the genetics of the disease and the role of future therapies.

journal_name

Semin Ophthalmol

authors

Ahmed E,Loewenstein J

doi

10.1080/08820530701745215

subject

Has Abstract

pub_date

2008-01-01 00:00:00

pages

39-43

issue

1

eissn

0882-0538

issn

1744-5205

pii

789915044

journal_volume

23

pub_type

杂志文章,评审
  • Evaluation and Management of Acute Acquired Comitant Esotropia in Children.

    abstract::Acute acquired comitant esotropia (AACE) is characterized by a sudden-onset eye misalignment with an equal angle of deviation in all fields of gaze. This form of esotropia is distinct from common forms of childhood esotropia, such as infantile esotropia and accommodative esotropia, in the rapid tempo and typically lat...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章,评审

    doi:10.1080/08820538.2016.1228398

    authors: Gilbert AL,Koo EB,Heidary G

    更新日期:2017-01-01 00:00:00

  • The Effect of Pseudoexfoliation Syndrome on the Retinal Nerve Fiber Layer and Choroid Thickness.

    abstract:PURPOSE:To investigate thickness of the retinal nerve fiber layer (RNFL) and choroid thickness in patients with pseudoexfoliation syndrome (PEX) and pseudoexfoliation glaucoma (PXG) compared to healthy volunteers. METHODS:This cross-sectional, prospective study included 43 patients with PXG, 45 patients with PEX syndr...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章

    doi:10.3109/08820538.2015.1090611

    authors: Demircan S,Yılmaz U,Küçük E,Ulusoy MD,Ataş M,Gülhan A,Zararsız G

    更新日期:2017-01-01 00:00:00

  • Ocular Manifestations, Conventional Fundus Fluorescein Angiographic Findings, and Relationship Between Angiographic Findings and Visual Acuity in Behçet's Disease.

    abstract:PURPOSE:Evaluating the ocular manifestation and fundus fluorescein angiography (FA) findings of patients with Behçet's disease as well as the relationship between visual acuity and angiographic findings. METHODS:Retrospective chart review of patients with Behçet's disease seen at the Farabi Eye Hospital. RESULTS:Fort...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章

    doi:10.1080/08820538.2016.1178310

    authors: Bazvand F,Zarei M,Ebrahimiadib N,Karkhaneh R,Davoudi S,Soleimanzadeh M,Sharifian E,Roohipoor R,Modjtahedi BS

    更新日期:2017-01-01 00:00:00

  • Caruncular tumor as the first sign of T-cell lymphoma relapse.

    abstract::The lacrimal caruncle is a modified cutaneous tissue that contains hair follicles, accessory lacrimal glands, sweat glands, lobules of fat, and sebaceous glands. Due to the nature of tissue, a variety of lesions, both benign and malignant, could arise from this area. Lymphomas of the eye and its adnexa are frequently ...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章

    doi:10.3109/08820538.2013.833260

    authors: Ting DS,Mansoor Q,Mathew S,Wride NK

    更新日期:2015-03-01 00:00:00

  • Evaluation of a New IOL Power Calculator in Cataract Patients with Normal and Long Axial Lengths.

    abstract::Purposes: To evaluate the accuracy of Ophtha Top and consistency between Ophtha Top and IOLMaster 500 in intraocular lens refractive power calculation among cataract patients with normal and long axial lengths. Methods: This study included cataract patients scheduled for phacoemulsification and IOL implantation surger...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章

    doi:10.1080/08820538.2020.1871033

    authors: Yu S,Lu CZ,Zhao Y,Song H

    更新日期:2021-01-17 00:00:00

  • Risk Factors for Return to the Operating Room after Resident-Performed Cataract Surgery.

    abstract:OBJECTIVE:Investigate risk factors for unplanned return to the operating room after resident-performed cataract surgery. DESIGN:Retrospective case-control study. SETTING:Institutional. METHODS:Study population: All patients with reoperation within 90 days of resident-performed phacoemulsification were matched to fou...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章

    doi:10.1080/08820538.2016.1208760

    authors: Menda SA,Driver TH,Neiman AE,Blumberg S,Naseri A,Stewart JM

    更新日期:2018-01-01 00:00:00

  • The use of anterior segment imaging after trabeculectomy.

    abstract::Evaluation of patients after trabeculectomy can be aided by the use of anterior segment imaging. Two commonly used forms of imaging are ultrasound biomicroscopy (UBM) and optical coherence tomography (OCT). Both modalities can be used to assess bleb morphology and how it affects treatment outcome, measure anterior cha...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章,评审

    doi:10.3109/08820538.2012.707275

    authors: Golez E 3rd,Latina M

    更新日期:2012-09-01 00:00:00

  • Laser blepharoplasty.

    abstract::Cosmetic eyelid surgery has benefited from the use of the carbon dioxide laser. The short pulsed laser cuts through tissue with limited surrounding thermal damage, resulting in incisions that heal with minimal scarring comparable to traditional cold steel methods. The laser provides excellent hemostasis, which shorten...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章,评审

    doi:10.3109/08820539809066084

    authors: Lessner AM,Fagien S

    更新日期:1998-09-01 00:00:00

  • Fungal corneal ulcer and bacterial orbital cellulitis occur as complications of bacterial endophthalmitis after cataract surgery in an immunocompetent patient.

    abstract:PURPOSE:To report a case of fungal corneal ulcer and bacterial orbital cellulitis as complications of bacterial endophthalmitis following cataract surgery. METHODS:A 51-year-old man underwent anterior chamber irrigation and aspiration in the left eye one day after cataract surgery because of bacterial endophthalmitis....

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章

    doi:10.3109/08820538.2012.760613

    authors: Kim EC,Kim MS,Kang NY

    更新日期:2013-03-01 00:00:00

  • Genetics of age-related macular degeneration: current concepts, future directions.

    abstract::Age-related macular degeneration (AMD) is a progressive degenerative disease which leads to blindness, affecting the quality of life of millions of Americans. More than 1.75 million individuals in the United States are affected by the advanced form of AMD. The etiological pathway of AMD is not yet fully understood, bu...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章,评审

    doi:10.3109/08820538.2011.577129

    authors: Deangelis MM,Silveira AC,Carr EA,Kim IK

    更新日期:2011-05-01 00:00:00

  • Anatomic and functional outcome of triamcinolone-assisted 23-gauge vitrectomy in vitreomacular traction syndrome.

    abstract:PURPOSE:To evaluate the outcomes of patients with vitreomacular traction syndrome (VMT) treated with triamcinolone acetonid (TA) assisted 23-gauge (23-G) transconjunctival sutureless vitrectomy. METHODS:Restrospective, case series. The medical charts of 13 eyes of 13 consecutive patients with VMT who underwent 23-gaug...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章

    doi:10.3109/08820538.2012.680640

    authors: Toklu Y,Demirel S,Sarac O,Cakmak HB,Cagıl N

    更新日期:2012-05-01 00:00:00

  • Crystalline corneal deposits in monoclonal gammopathy: in-vivo confocal microscopy.

    abstract:PURPOSE:To describe the in-vivo confocal microscopy corneal findings in a patient with bilateral corneal deposits caused by an underlying monoclonal gammopathy. METHODS:A 68-year-old man came to our center for an ophthalmologic examination. Besides visual acuity, the examination included slit-lamp biomicroscopy, intra...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章

    doi:10.3109/08820538.2012.730102

    authors: Paladini I,Pieretti G,Giuntoli M,Abbruzzese G,Menchini U,Mencucci R

    更新日期:2013-01-01 00:00:00

  • Indocyanine green angiography pattern of congenital grouped albinotic retinal pigment epithelial spots.

    abstract::Congenital grouped albinotic retinal pigment epithelial spots (CGARPES) is a rare retinal pigment epithelium disease with multiple, white spots, generally involving the peripheral retina, with variable angiographic pattern. A 46-year-old male affected by CGARPES underwent fluorescein angiography and indocyanine green ...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章

    doi:10.1080/08820530490882670

    authors: Battaglia Parodi M,Iacono P

    更新日期:2004-09-01 00:00:00

  • Vision-related quality of life in patients with chronic central serous chorioretinopathy.

    abstract:PURPOSE:To evaluate vision-related quality of life in patients with chronic central serous chorioretinopathy (CSCR). DESIGN:Prospective, cross-sectional study. METHODS:The interviewer-administered National Eye Institute visual function questionnaire (NEI-VFQ-25) was used in 30 adult consecutive patients with chronic ...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章

    doi:10.3109/08820538.2013.839818

    authors: Türkcü FM,Şahin A,Bez Y,Yüksel H,Cinar Y,Kürşat Cingü A,Çaça İ

    更新日期:2015-07-01 00:00:00

  • Triads in Ophthalmology: A Comprehensive Review.

    abstract::Ophthalmology, like any other clinical science, is constantly evolving. As our knowledge in this field expands, we enumerate and describe classical triads of symptoms or signs with relevance to ophthalmology in this article. Characteristic clinical triads for certain systemic conditions with ocular implications are al...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章,评审

    doi:10.3109/08820538.2015.1045150

    authors: Tripathy K,Sharma YR,Chawla R,Basu K,Vohra R,Venkatesh P

    更新日期:2017-01-01 00:00:00

  • GQ1b antibody testing in Guillain-Barre syndrome and variants.

    abstract::Guillain-Barre syndrome (GBS) is characterized by an ascending muscle paralysis with progressive loss of muscle stretch reflexes. Annually, approximately 2.4 cases per 100,000 population of GBS are reported. Variant forms do exist. These include the Fisher syndrome, GBS with ophthalmoplegia, Bickerstaff's brainstem en...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章

    doi:10.1080/08820530601006775

    authors: Chaudhry F,Gee KE,Vaphiades MS,Biller J,Jay W

    更新日期:2006-10-01 00:00:00

  • Ultra wide-field imaging of choroidal metastasis secondary to primary breast cancer.

    abstract:PURPOSE:To demonstrate the ability of ultra wide-field fundus imaging to document the response to treatment of a choroidal metastatic lesion from primary breast carcinoma. DESIGN:Observational case report. METHODS:A 45 year old female with a history of metastatic breast cancer and progressive vision loss in the right...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章

    doi:10.1080/08820530802520194

    authors: Coffee RE,Jain A,McCannel TA

    更新日期:2009-01-01 00:00:00

  • Retinopathy of prematurity: current concepts in molecular pathogenesis.

    abstract::Retinopathy of prematurity is marked by the proliferative vascularization of the retina in preterm babies. An understanding of the molecular pathogenesis of ROP provides the basis for identifying novel therapeutic targets for treatment. Using the mouse model of oxygen-induced retinopathy, the roles of the hypoxia indu...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章,评审

    doi:10.1080/08820530902800314

    authors: Heidary G,Vanderveen D,Smith LE

    更新日期:2009-03-01 00:00:00

  • Fatal posterior ischemic optic neuropathy.

    abstract:OBJECTIVE:We would like to describe a case report of posterior ischemic optic neuropathy (PION) misdiagnosed as arteritic PION with presumed GCA which leads to missing the correct diagnosis with fatal outcome. METHODS:The clinical course of a single patient will be described including presentation, testing,diagnosis a...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章

    doi:10.3109/08820530903392902

    authors: Samy H,Chronister D

    更新日期:2009-11-01 00:00:00

  • Infrequent Complications of Inferior Oblique Recession Surgery.

    abstract:PURPOSE:To report the infrequent complications, including antielevation and adherence syndrome, after a unilateral and bilateral inferior oblique (IO) recession procedure and to discuss the possible causes. METHODS:A retrospective chart review was conducted for patients on whom unilateral or bilateral IO weakening sur...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章

    doi:10.3109/08820538.2015.1132332

    authors: Niyaz L,Yücel OE,Gul A

    更新日期:2017-01-01 00:00:00

  • Vascular anomalies of the head and neck: a review of genetics.

    abstract:PURPOSE:Vascular anomalies comprise malformations, hemangiomas, and rare tumors. The commonality among these lesions is their origin in vascular endothelia. Most occur sporadically, but occasional inheritance is observed and thus allows genetic research and insight into etiology. This review highlights those vascular a...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章,评审

    doi:10.3109/08820538.2013.825279

    authors: Yadav P,De Castro DK,Waner M,Meyer L,Fay A

    更新日期:2013-09-01 00:00:00

  • New aqueous inflow inhibitors.

    abstract::Several new aqueous inflow inhibitors have been introduced over the past few years. These new agents include two alpha agonists, two topical carbonic anhydrase inhibitors, and a novel combination agent. All of these agent compare favorably with timolol in terms of aqueous suppression, though each has its own relative ...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章,评审

    doi:10.3109/08820539909061469

    authors: Doyle JW,Smith MF

    更新日期:1999-09-01 00:00:00

  • Genetics of ectopia lentis.

    abstract::Hereditary ectopia lentis or lens subluxation can occur with and without systemic associations. Significant overlap can be found in the genetic mutations and pathogenesis of subluxated lenses in their isolated forms as well as with associated syndromes. Gene mutations have been identified for lens subluxation associat...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章,评审

    doi:10.3109/08820538.2013.825276

    authors: Sadiq MA,Vanderveen D

    更新日期:2013-09-01 00:00:00

  • Scleral Thinning Documented by Ultrasound Biomicroscopy after Plaque Therapy for Anterior Ciliary Melanoma.

    abstract:PURPOSE:To evaluate, by ultrasound biomicroscopy (UBM), changes in scleral thickness after ruthenium-106 CCB and CCC plaque (Eckert & Ziegler BE-BIG GmbH, Berlin, Germany) therapy for anterior ciliary melanoma. METHODS:Eleven patients with anterior ciliary melanoma underwent ruthenium-106 CCB and CCC plaque radiation ...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章

    doi:10.1080/08820538.2017.1346131

    authors: Kuzmanović Elabjer B,Bušić M,Miletić D,Bjeloš M,Vukojević N,Bosnar D

    更新日期:2018-01-01 00:00:00

  • Pharmacologic therapy for diabetic retinopathy.

    abstract::Diabetic retinopathy is one of the most serious complications of chronic diabetes mellitus and is the leading cause of blindness in working-age populations. Large, randomized studies have demonstrated the benefits of systemic and ocular therapy in the prevention and treatment of diabetic retinopathy. The process of an...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章,评审

    doi:10.3109/08820538.2013.859280

    authors: Gardlik R,Fusekova I

    更新日期:2015-07-01 00:00:00

  • Advantages of Small Incision Lenticule Extraction (SMILE) for Mass Eye and Ear Special Issue.

    abstract::This review summarizes the advantages of Small-incision lenticule extraction (SMILE), including improved patient intraoperative experience, improved postoperative ocular surface, low incidence of regression, low re-treatment rates, and advantageous biomechanical corneal stability. Visual and refractive outcomes are si...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章

    doi:10.1080/08820538.2020.1807028

    authors: Ahmed AA,Hatch KM

    更新日期:2020-05-18 00:00:00

  • Higher-order wavefront aberrations induced by small ablation area and sub-clinical decentration in simulated corneal refractive surgery using a perturbed schematic eye model.

    abstract::The purpose was to investigate the effect of decentered ablation in myopic corneal refractive surgery by simulation. Wavefront aberrations in a small pupil area (radius: 2 mm) for photopic vision and in a large pupil area (radius: 3 mm) for mesopic vision with simulated refractive surgery were analyzed using Zernike p...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章

    doi:10.1076/soph.18.1.41.14071

    authors: Mihashi T

    更新日期:2003-03-01 00:00:00

  • Lymphomatoid papulosis of the eyelid.

    abstract::Lymphomatoid papulosis (LyP) is a chronic papulonecrotic or papulonodular skin disease, with histological features suggestive of malignant lymphoma. It was originally described by Macauley (1968) as a "self-healing paradoxical eruption, histologically malignant but clinically benign." Unless accompanied by systemic ...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章

    doi:10.3109/08820538.2012.680643

    authors: Cloke A,Lim LT,Kumarasamy M,Roberts F,Kemp EG

    更新日期:2013-01-01 00:00:00

  • Complications of intra-arterial chemotherapy for retinoblastoma.

    abstract:INTRODUCTION:The purpose of this paper is to perform a systematic review of the published literature on complications of intra-arterial chemothrapy (IAC) for the treatment of retinoblastoma. MATERIALS AND METHODS:A literature search was performed using the Pubmed database using the terms. Complications were divided in...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章,评审

    doi:10.3109/08820538.2014.959188

    authors: Monroy JE,Orbach DB,VanderVeen D

    更新日期:2014-09-01 00:00:00

  • Risk Factors for Poor Quality of Life among Patients with Age-Related Macular Degeneration.

    abstract:PURPOSE:The purpose of this study was to evaluate the quality of life in patients with age-related macular degeneration (AMD) and compare it with that of healthy controls. Additionally, our study aims to investigate the possible risk factors for poor quality of life in AMD patients. METHODS:Participants in the study w...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章

    doi:10.1080/08820538.2016.1181192

    authors: Chatziralli I,Mitropoulos P,Parikakis E,Niakas D,Labiris G

    更新日期:2017-01-01 00:00:00