Abstract：
PURPOSE:To assess the state of knowledge of photoreceptor dystrophies. METHODS:The current literature concerning photoreceptor dystrophies is reviewed, and their potential impact on concepts of pathogenesis of disease and clinical practice is assessed. RESULTS:As a result of cooperative investigative work between researchers in various disciplines, major advances in the classification of retinal photoreceptor dystrophies have been made. Until recently, classification of retinal dystrophies was based on clinical observation alone, and it was evident that this method was imprecise and of limited value. Largely through the work of molecular biologists, it has been shown that diseases clinically indistinguishable from one another may be a result of mutations on a variety of genes; conversely, different mutations on a single gene may give rise to a variety of phenotypes. It is reassuring that it is possible to generate concepts as to potential pathogenetic mechanisms that exist in retinal dystrophies in light of this new knowledge. More important for the clinician is the potential impact on clinical practice. There is as yet no therapy by which the course of most of these disorders can be modified. However, there is a considerable body of work in which therapeutic intervention is being explored, and many researchers now see treatment as a justifiable objective of their work. CONCLUSIONS:Knowledge of the causative mutation is of value to the clinician in that it provides a precise diagnosis and allows the distribution of the abnormal gene to be documented fully within a family. To take full advantage of the opportunities provided by current research, clinical practice will have to be modified, particularly if therapy can be justified.
journal_name
Am J Ophthalmoljournal_title
American journal of ophthalmologyauthors
Bird ACdoi
10.1016/s0002-9394(14)70212-0subject
Has Abstractpub_date
1995-05-01 00:00:00pages
543-62issue
5eissn
0002-9394issn
1879-1891pii
S0002-9394(14)70212-0journal_volume
119pub_type
杂志文章,评审abstract：PURPOSE:Descemet membrane endothelial keratoplasty is a new technique for the replacement of diseased corneal endothelium with healthy donor endothelium. During this procedure, manipulation of the donor endothelium-Descemet membrane layer within the recipient anterior chamber can be associated with loss of the correct ...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2010.01.005
更新日期：2010-06-01 00:00:00
abstract：PURPOSE:To assess the conjunctival bacterial profiles in dry eye and their fluoroquinolone susceptibility patterns. DESIGN:Prospective, observational study. METHODS:Sixty-seven female patients with dry eye (29 with Sjögren syndrome and 38 without Sjögren syndrome) who received artificial tears were enrolled at Osaka ...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2008.06.003
更新日期：2008-11-01 00:00:00
abstract：PURPOSE:To report a neovascular age-related macular degeneration pattern refractory to ranibizumab. DESIGN:Retrospective, observational case series. METHODS:Between March and May 2009, cases with neovascular age-related macular degeneration refractory to ranibizumab were investigated with indocyanine green angiograph...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2010.05.035
更新日期：2010-11-01 00:00:00
abstract：PURPOSE:To report hypertrichosis and increased pigmentation of vellus hairs of the malar region associated with topical bimatoprost usage. DESIGN:Interventional case report METHODS:In a female Hispanic patient with open-angle glaucoma, hypertrichosis, and increased pigmentation of the vellus hairs of the malar region...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2003.09.002
更新日期：2004-04-01 00:00:00
abstract：:A graft of hard palate mucosa is a satisfactory substitute for the posterior lamella of tarsus and conjunctiva in eyelid reconstruction. The graft may be harvested after administration of local anesthesia in adults, provides structural support as well as a mucosal surface, and contracts minimally. The palatal donor si...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(89)90257-2
更新日期：1989-06-15 00:00:00
abstract：:A 20-month-old boy with a ciliary body tumor presented with two white flocculi floating in the anterior chamber of his left eye. This material was examined by electron microscopy. Both the clinical appearance of the tumor and the ultrastructural findings suggested the diagnosis of medulloepithelioma. The flocculi cont...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(75)90089-6
更新日期：1975-02-01 00:00:00
abstract：:Follow-up examinations, ranging from four to more than 20 years, were performed on 100 patients with chronic cyclitis whose ages at onset were from 4 to 58 years. Cataracts were found in 42% of eyes and macular disease secondary to macular edema in 28% of eyes. Band keratopathy, glaucoma, retinal detachment, retinosch...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(76)90434-7
更新日期：1976-08-01 00:00:00
abstract：:We evaluated the reliability of optic disk area and disk rim area measurements obtained with the Humphrey Retinal Analyzer from ten repeat fundus images each of one eye of ten normal subjects and ten subjects with increased intraocular pressure. Variability of rim and disk areas was not significantly different between...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(14)73309-4
更新日期：1989-10-15 00:00:00
abstract：PURPOSE:To compare the nocturnal effects of once-daily timolol and latanoprost on intraocular pressure (IOP) in patients with ocular hypertension or early glaucomatous changes. DESIGN:Prospective, open-label, experimental study with crossover design. METHODS:Eighteen patients with ocular hypertension or early glaucom...
journal_title：American journal of ophthalmology
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1016/j.ajo.2004.04.022
更新日期：2004-09-01 00:00:00
abstract：PURPOSE:To describe and quantify the appearance of the optic disk in patients with advanced age-related macular degeneration (ARMD). DESIGN:Retrospective comparative study. METHODS:A total of 316 charts were reviewed. From these, 45 subjects with advanced ARMD (defined as geographic atrophy or disciform scar) in at l...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2004.02.021
更新日期：2004-07-01 00:00:00
abstract：PURPOSE:To investigate the complication profile and the long-term functional outcome of combined pars plana vitrectomy and scleral-fixated sutured posterior chamber lens (PC IOL) implantation. DESIGN:Retrospective, consecutive, interventional case series. METHODS:The records of 63 patients (mean age, 67.5 years) were...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2007.05.014
更新日期：2007-09-01 00:00:00
abstract：PURPOSE:To assess a response to infliximab therapy in childhood uveitis. DESIGN:Retrospective case series. METHODS:We reviewed the course of 16 children with noninfectious uveitis treated with infliximab at an academic medical center. Outcome measures included incidence of uveitis recurrences, proportion of patients ...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2007.08.018
更新日期：2007-12-01 00:00:00
abstract：PURPOSE:To evaluate the surgical efficacy of pars plana vitrectomy on eyes with diabetic macular edema in the presence or absence of a complete posterior vitreous detachment and with or without an epimacular membrane. METHODS:Pars plana vitrectomy was performed on 30 eyes of 29 cases with diabetic macular edema. Visua...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(01)01050-9
更新日期：2001-09-01 00:00:00
abstract：PURPOSE:To investigate the structure-function relationship between optical coherence tomography (OCT) macular retinal and peripapillary nerve fiber layer (NFL) thickness and automated visual field (VF) findings. DESIGN:Cross-sectional observational study. METHODS:Retrospective institutional study where 150 consecutiv...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2004.03.019
更新日期：2004-08-01 00:00:00
abstract：:We performed 115 scleral-buckling procedures for primary rhegmatogenous retinal detachments in which the argon endolaser drained subretinal fluid. The laser was set at 0.80 to 1.25 W and 0.5 second; the endolaser probe was held adjacent to, but not touching, the choroid. The procedure was successful in 112 of 115 (97....
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(14)73643-8
更新日期：1993-06-15 00:00:00
abstract：PURPOSE:To evaluate long-term complications related to glaucoma drainage devices in patients undergoing Boston type 1 keratoprosthesis surgery. DESIGN:Retrospective case series. METHODS:All patients who underwent Boston type 1 keratoprosthesis surgery at the University of California, Davis, between 2004 and 2010 were...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2011.01.034
更新日期：2011-08-01 00:00:00
abstract：PURPOSE:Autosomal recessive congenital fibrosis of the extraocular muscles (CFEOM2) has been described in families from Saudi Arabia. Affected individuals have ptosis and exotropic ophthalmoplegia, and their disease has been mapped to chromosome 11q13. Here, we describe the phenotypic findings in a similarly affected Y...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(99)00467-5
更新日期：2000-05-01 00:00:00
abstract：PURPOSE:To investigate whether use of donors predisposed by corneal collagen cross-linking (CXL) reduced myopic refractive errors for keratoconic eyes after penetrating keratoplasty (PK). DESIGN:Randomized controlled trial. METHODS:One hundred sixteen eyes of 116 patients with keratoconus from Zhongshan Ophthalmic Ce...
journal_title：American journal of ophthalmology
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.ajo.2017.10.003
更新日期：2017-12-01 00:00:00
abstract：PURPOSE:The aim of this study is to investigate temporal trends in multifocal ERG (mfERG) parameters and analyze their relationships with anatomic and functional markers in patients with birdshot chorioretinopathy (BSCR). DESIGN:Prospective observational case series. METHODS:Sixteen BSCR patients were include and und...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2018.11.022
更新日期：2019-04-01 00:00:00
abstract：:Communication between the retinal and the choroidal circulation occurred in one case of proliferative diabetic retinopathy and one case of Leber's disease (multiple miliary aneurysms) after argon laser photocoagulation treatment to eliminate abnormal retinal vasculature. In both instances rapid-sequence fluorescein an...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(76)90426-8
更新日期：1976-08-01 00:00:00
abstract：PURPOSE:To analyze the long-term growth patterns of type 1 neovascularization (NV) in eyes with age-related macular degeneration (AMD) receiving anti-vascular endothelial growth factor (VEGF) therapy. DESIGN:Retrospective cohort study. METHODS:Patients were enrolled from 2 eye centers and underwent optical coherence ...
journal_title：American journal of ophthalmology
pub_type： 杂志文章,多中心研究
doi：10.1016/j.ajo.2017.12.005
更新日期：2018-03-01 00:00:00
abstract：PURPOSE:To report the 1-year visual outcomes and incidence of persistent and recurrent choroidal neovascularization (CNV) after limited macular translocation (LMT) for subfoveal CNV in patients with age-related macular degeneration (ARMD). DESIGN:Interventional case series. METHODS:Retrospective review of 102 consecu...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(02)01511-8
更新日期：2002-07-01 00:00:00
abstract：:In a prospective study of 415 consecutive eyes operated on for retinal detachment, there were no apparent retinal breaks in 41 eyes. Examination of the most likely site for breaks during, or shortly after, cryotherapy was helpful in detecting tiny breaks in several cases. All detachments without apparent breaks were o...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(76)90297-x
更新日期：1976-04-01 00:00:00
abstract：PURPOSE:To assess the results of iris suture fixation of subluxated intraocular lenses. DESIGN:Retrospective study. METHODS:This was a nonrandomized chart review of eyes with subluxated intraocular lenses that underwent iris suture fixation at an academic institutional care center. Seventy-two eyes of 67 consecutive ...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2014.11.009
更新日期：2015-02-01 00:00:00
abstract：PURPOSE:To describe the clinical manifestation and course of disseminated acute lymphoblastic leukemia in an adult. METHODS:Case report. Recurrence of disseminated disease was heralded by "salmon patch" involvement of the conjunctiva. The ocular tumor was treated successfully with external beam radiotherapy. RESULTS:...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(14)71651-4
更新日期：1997-07-01 00:00:00
abstract：:Retinal tacks that can be easily placed and removed allow precise intraocular control of retinal fixation in the repair of complicated retinal detachments. We used this technique in 41 consecutive cases of complicated retinal detachment. In 37 cases follow-up was six months or more. We achieved reattachment of the pos...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(86)90203-5
更新日期：1986-07-15 00:00:00
abstract：PURPOSE:To investigate the efficacy of ciliary body endophotocoagulation during pars plana vitrectomy in eyes of pediatric patients with medically uncontrolled glaucoma. METHOD:We compared preoperative and postoperative intraocular pressure and visual acuity in five eyes of five patients aged between 10 months and 14....
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(98)00184-6
更新日期：1998-11-01 00:00:00
abstract：:Two patients had paresis of the trochlear nerve contralateral to the site of lesions in the brainstem. Both patients had ipsilateral blepharoptosis and miosis suggesting oculosympathetic paresis from involvement of the descending sympathetic tract, adjacent to the fourth cranial nerve nucleus and its fascicles, in the...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(89)90818-0
更新日期：1989-01-15 00:00:00
abstract：PURPOSE:To investigate changes in anterior chamber angle configuration with indentation ultrasound biomicroscopy gonioscopy of relative pupillary block (RPB). DESIGN:Cross-sectional study. METHODS:This study included 26 eyes of 26 patients with RPB. We determined angle opening distance 500 and angle recess area using...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2003.08.048
更新日期：2004-03-01 00:00:00
abstract：PURPOSE:To clinically validate and ascertain the repeatability of a short questionnaire for dry eye syndrome (DES), consisting of two questions pertaining to symptoms (dryness and irritation) and one question regarding previous history of clinically diagnosed DES. DESIGN:Clinical validation study with repeated assessm...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2006.02.038
更新日期：2006-07-01 00:00:00
