Trends in blind and low vision registrations in Taipei City

PURPOSE: To determine the overall reported incidence and causes of registrable blindness and low vision in Taipei, Taiwan, that have occurred in the previous 10 years. METHODS: Study data were obtained from disability identification registration forms completed between January 1995 and December 2004. Definitions of low vision and blindness were defined by WHO criteria: low vision included visual acuity worse than 6/18 (20/60) to a lower limit of 3/60 (20/400). Blindness was defined as visual acuity worse than 3/60 (20/400) in the better eye with best possible correction. RESULTS: There were 3151 registrations for visual impairment during the study period. A total of 239 registrations were excluded due to insufficient data. Of the remaining 2912 (1518 males and 1394 females), 640 males and 647 females were legally blind (44.20%). A total of 878 males and 747 females were partially sighted. The six leading causes of low vision and blindness, in decreasing frequency, were glaucoma, optic neuropathy, diabetic retinopathy, retinitis pigmentosa, age-related macular degeneration, and myopic macular degeneration. CONCLUSIONS: The proportions of new registrations owing to glaucoma, diabetic retinopathy, age-related macular degeneration, and myopic macular degeneration have changed significantly since 2000; the proportion due to diabetic retinopathy has increased.     

Effect of unilateral inferior oblique weakening on fundus torsion in bilateral eyes of children with congenital superior oblique palsy

AIM: To determine the frequency and types of retinal diseases in adult patients attending two public eye clinics of Kinshasa, Democratic Republic of Congo, and the extend of the related visual loss. METHODS: Review of medical records of patients with retinal diseases seen in the major eye clinics in Kinshasa, the University Hospital of Kinshasa (UHK) and Saint Joseph Hospital (SJH), from January 2012 to December 2014. Demographics and diagnoses were retrieved and analyzed. Outcome measures were frequency and prevalence of retinal diseases, blindness and low vision. RESULTS: A total of 40 965 patients aged 40y or older were examined during this period in both clinics. Of these, 1208 had retinal disease, giving a 3-year and an annual prevalence of 3% and 1%, respectively. Mean age was 61.7±10.7y, 55.8% of the patients were males. Arterial hypertension (68.1%) and diabetes (43.3%) were the most common systemic comorbidities. Hypertensive retinopathy (41.8%), diabetic retinopathy (37.9%), age-related macular degeneration (14.6%), and chorioretinitis and retinal vein occlusion (7.3% each) were the most common retinal diseases, with 3-year prevalence rates were 1.3%, 1.0%, 0.43%, and 0.21% respectively. Bilateral low vision and blindness were present in 26.8% and 8.4% of the patients at presentation. Major causes of low vision and blindness were diabetic retinopathy (14.8%), age-related macular degeneration (4.9%), retinal detachment (2.8%), and retinal vein occlusion (2.5%). The prevalence was significantly higher among males than females, and at the UHK than SJH. CONCLUSION: Retinal diseases are common among Congolese adult patients attending eye clinics in Kinshasa. They cause a significant proportion of low vision and blindness.     

Snowflake vitreoretinal degeneration: follow-up of the original family

PURPOSE: The ocular findings, systemic features, and genetic loci distinguishing known genetic causes of vitreoretinal degenerations were studied in the original Snowflake family. DESIGN: Prospective, comparative study and molecular genetic investigation. PARTICIPANTS: Members of the original snowflake vitreoretinal degeneration family. METHODS: Clinical data were collected on 26 family members by history and examination. Thirteen of the 26 total family members underwent prospective examination. Linkage to known vitreoretinal degeneration loci (COL2A1, COL11A1, and the Wagner disease locus) was evaluated with short tandem repeat markers. MAIN OUTCOME MEASURES: Ocular and systemic features of known vitreoretinal degenerations. RESULTS: Six of the 13 prospectively examined subjects had snowflake vitreoretinal degeneration. Corneal guttae (4/5; 80%), early onset cataract (5/6; 83%), fibrillar vitreous degeneration (6/6; 100%), and peripheral retinal abnormalities (5/6; 83%), including minute crystallinelike deposits called snowflakes (4/6; 67%), were common. Retinal detachment was seen in 1 of 6 of these prospectively examined subjects (17%). A total of 14 affected subjects were identified within the family, and in 3 (21%), retinal detachment developed. Orofacial features, early-onset hearing loss, and arthritis typical of Stickler syndrome were absent. Linkage to known vitreoretinal degeneration loci was excluded. CONCLUSIONS: The absence of vitreous gel in the retrolental space and presence of fibrillar vitreous degeneration were consistent with the vitreous structure reported for collagen 11A1 (COL11A1) but not collagen 2A1 (COL2A1) mutations. The absence of systemic features was characteristic of the vitreoretinopathies linked to chromosome 5q13 (Wagner disease and erosive vitreoretinopathy) and mutations in exon 2 of the COL2A1 gene. Snowflakes in the peripheral retina and the absence of nyctalopia, posterior chorioretinal atrophy, and tractional retinal detachment were inconsistent with the chromosome 5q13 vitreoretinopathies. The association of Fuchs' corneal endothelial dystrophy found in this family has not been reported previously in other vitreoretinal degenerations. These findings and the exclusion of known genetic loci suggest snowflake is a distinct vitreoretinal degeneration.     

Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family

PURPOSE: To describe the clinical features and identify the mutation responsible for an autosomal dominant vitreoretinal degeneration occurring in a previously unreported large family. DESIGN: Cohort study. METHODS: Family members were evaluated clinically over a 30-year period. Genealogical investigation, genetic linkage to known vitreoretinal degenerations, and mutation screening of the COL2A1 gene were performed. RESULTS: We identified a single large family (2,384 total family members) with vitreoretinal degeneration spanning 12 generations. We reviewed the clinical records of 165 family members (95 affected and 70 unaffected). The common clinical findings in affected individuals included early-onset posterior perivascular retinal degeneration, vitreous degeneration, and retinal detachment. The incidence of retinal detachment was 57% (95/165) and the mean age of onset was 15.2 years. Orofacial, skeletal, and auditory abnormalities were seen in 0%, 5%, and 7.5%, respectively, in a subset of 28 affected subjects. Linkage to the collagen COL2A1 locus was demonstrated and a cytosine to adenosine transition identified within exon 2, leading to the creation of a stop codon at position 86 (Cys86Stop). CONCLUSIONS: Identification of the mutation in this family enables diagnosis of individuals at risk for potentially blinding complications in this condition at an early age. Given the variability of the Stickler phenotype, mutation detection allows for more comprehensive genetic counseling and directs clinical monitoring to family members inheriting the disease gene.     

Screening for age-related macular degeneration using nonstereo digital fundus photographs

Age-related macular degeneration (AMD) is a disease with significant visual morbidity and accounts for the majority of blind registrations in the developed world including the UK. Certain forms of neovascular AMD are amenable to treatment but require expeditious referral to a retinal specialist. AIM: To evaluate the possibility of using nonstereo fundus photographs as a low-cost screening tool for neovascular AMD. DESIGN: Retrospective review of patients referred to the macular clinic of a teaching hospital in London. METHODS: A total of 198 randomised digital fundus photographs, without any other clinical information, were presented to two independent ophthalmic interns who graded them into one of the three categories: normal, age-related maculopathy (ARM), or neovascular age-related macular degeneration (AMD) to determine the urgency of referral to clinic. The results were compared with the known diagnosis for each patient and sensitivities and specificities for each diagnostic category calculated. RESULTS: The intraobserver Kappa statistic was 0.75 and 0.91 for grader 1 and 2, respectively. The interobserver Kappa was 0.54. The mean sensitivity and specificity for the identification of ARM was 60.5 and 76.3%, respectively The mean sensitivity and specificity for the identification of AMD was 85.7 and 78.8%, respectively. CONCLUSION: Nonstereo digital fundus photograph is a reasonable screening tool for CNV and may aid in decreasing the visual morbidity it causes by enabling timely referrals and treatment.     

Visualization of retinal vasculitis in Eales' disease

Between 1970 and 1991 the authors examined 466 patients with Eales' disease. The mean age at diagnosis was 30, ranging between 14 and 55 years. The mean follow-up period was 43.5 months. At the initial examination, 356 cases were bilateral and 110 cases were unilateral (822 eyes). Vitreous hemorrhage was present in 257 of the 822 eyes. In the remaining 565 eyes, the major retinal lesions were retinal neovascularization (40.7%), vascular sheathing (20.7%), vascular sheathing and retinal hemorrhages (10.6%), retinitis proliferans (9.4%), disc neovascularization (9.0%), branch vein occlusion (3.2%), tractional retinal detachment (2.4%), central vein occlusion (1.8%), central vascular sheathing (1.1%), obliterated vessels (1.1%). Forty-nine out of the 110 initially unilateral cases eventually developed bilateral involvement after a mean period of 42 months. The percentage of eyes with a vision of 0.1 and better rose from 68.1% in the initial examination to 77.9% in the final examination. Fluorescein angiograms of the affected eyes show dye leakage with retinal staining, microaneurysms, capillary non-perfusion and neovascularization. Fundus changes are characteristic of Eales' disease. Unilateral cases should be closely followed because of the risk of involvement of the other eye. Fluorescein angiography is a requirement for early identification of vascular changes and for proper follow-up in Eales' disease.     

非外伤性严重玻璃体积血主要病因回顾性分析

目的 观察非外伤性严重玻璃体积血患者的病因构成及变化趋势。方法 2005年1月至2011年12月行玻璃体切割手术治疗的非外伤性严重玻璃体积血患者1107例1202只眼纳入研究。按收治时间对患者进行分组,2005年1月至2008年12月为A组,2009年1月到2011年12月为B组。A组患者415例444只眼;B组患者692例758只眼。回顾分析引起玻璃体积血的病因构成及变化趋势。结果 A组444只眼中,视网膜静脉阻塞（RVO）156只眼、增生型糖尿病视网膜病变（PDR）117只眼、视网膜裂孔或脱离（RH／RD）61只眼、视网膜静脉周围炎（Eales 病）42只眼、渗出型老年性黄斑变性（EAMD）20只眼,占同期玻璃体积血患眼的89.19%;RVO患者比例最多。B 组758只眼中,PDR 347只眼、RH／RD 135只眼、RVO 133只眼、Eales病 29只眼、EAMD 22只眼,占同期玻璃体积血患眼的87.87%;PDR患者比例最多,RVO次之。PDR引起的玻璃体积血构成比逐年增加。结论 PDR、RVO、RH／RD、Eales 病、EAMD是非外伤性严重玻璃体积血的常见原因;PDR引起的玻璃体积血呈增加趋势。     

Ocular morbidity associated with intravitreal triamcinolone acetonide

AIM: To report on the complications associated with the use of intravitreal triamcinolone acetonide (IVTA) in a tertiary referral hospital setting. MATERIALS AND METHODS: A retrospective case series review of all IVTA injections carried out over a period of 30 months. RESULTS: One hundred and thirty IVTA injections were performed; nine with limited local follow-up were excluded. Thus, 121 injections (108 patients, 114 eyes) were included in the study. Triamcinolone (4 mg) was used in all cases. Indications were diabetic macular oedema (n=41 eyes), retinal vein occlusions (n=27), postoperative cystoid macular oedema (n=24), exudative age-related macular degeneration (n=16), and others (n=6). No intraoperative complications were recorded. Postoperative intraocular pressure (IOP) readings of 22, 28, 35, and 40 mmHg or higher were recorded in 46.5, 29.8, 12.3, and 7.9% of eyes, respectively. IOP elevation was treated with antiglaucoma medication in all but one eye (0.9%) that required trabeculectomy and one (0.9%) that required vitrectomy with cataract extraction for suspected phacoanaphylactic glaucoma. Two eyes (1.8%) developed retinal detachment; both had previously been treated for retinal breaks. One eye (0.9%) developed culture-positive endophthalmitis. Conclusions: Significant morbidity is associated with IVTA injection; clinicians should be aware when considering treatment options.     

Profile of retinal diseases in adult patients attending two major eye clinics in Kinshasa, the Democratic Republic of Congo

AIM: To investigate the anti-proliferation and apoptosis-inducing effects of Sodium Aescinate (SA) on retinoblastoma Y79 cells and its mechanism. METHODS: Y79 cells were cultured at different drug concentrations for different periods of time (24, 48, and 72h). The inhibitory effect of SA on proliferation of Y79 cells was detected by the cell counting kit-8 (CCK-8) assay, and the morphology of Y79 cells in each group was observed under an inverted microscope. An IC50 of 48h was selected for subsequent experiments. After pretreatment with SA for 24h and 48h, cellular DNA distribution and apoptosis were detected by flow cytometry. RT-qPCR and Western blot were used to assess changes in related genes (CDK1, CyclinB1, Bax, Bcl-2, caspase-9, caspase-8, and caspase-3). RESULTS: SA inhibited proliferation and induced apoptosis of Y79 cells in a time-dependent and concentration-dependent manner. Following its intervention in the cell cycle pathway, SA can inhibit the expression of CDK1 and CyclinB1 at the mRNA and protein levels, and block cells in the G2/M phase. In caspase-related apoptotic pathways, up-regulation of Bax and down-regulation of Bcl-2 caused caspase-9 to self-cleave and further activate caspase-3. What’s more, the caspase-8-mediated extrinsic apoptosis pathway was activated, and the activated caspase-8 was released into the cytoplasm to activate caspase-3, which-as a member of the downstream apoptotic effect group―initiates a caspase-cascade reaction that induces cell apoptosis. CONCLUSION: SA inhibits the proliferation of Y79 cells by arresting the cell cycle at the G2/M phase, and induces apoptosis via the caspase-related apoptosis pathway, indicating that SA may have promising potential as a chemotherapeutic drug.     

Retinal oxygenation and oxygen metabolism in Abyssinian cats with a hereditary retinal degeneration

PURPOSE: To investigate the effects of a hereditary retinal degeneration on retinal oxygenation and determine whether it is responsible for the severe attenuation of retinal circulation in hereditary photoreceptor degenerations. METHODS: Seven adult Abyssinian cats affected by hereditary retinal degeneration were studied. Oxygen microelectrodes were used to collect spatial profiles of retinal oxygenation in anesthetized animals. A one-dimensional model of oxygen diffusion was fitted to the data to quantify photoreceptor oxygen utilization (Qo(2)). RESULTS: Photoreceptor Qo(2) progressively decreased until it reached zero in the end stage of the disease. Average inner retinal oxygen tension remained within normal limits at all disease stages, despite the observed progressive retinal vessel attenuation. Light affected photoreceptors normally, decreasing Qo(2) by approximately 50% at all stages of the disease. CONCLUSIONS: Loss of photoreceptor metabolism allows choroidal oxygen to reach the inner retina, attenuating the retinal circulation in this animal model of retinitis pigmentosa (RP) and probably also in human RP. As the degeneration progresses, there is a strong relationship between changes in the a-wave of the ERG and changes in rod oxidative metabolism, indicating that these two functional measures change together.     

Retinal detachment in children and adolescents

During a 4-year period 22 eyes with rhegmatogenous retinal detachment in children and young adults up to 20 years of age were operated on. This group comprised 6.3 percent of all rhegmatogenous retinal detachments operated on during the same period. In 9 eyes (40.9%) the detachment was due to a direct ocular trauma. In the remaining cases the main etiological factors were: myopia with or without lattice degeneration (5 eyes), retinopathy of prematurity (2 eyes), hereditary vitreoretinal degeneration (1 eye), uveal coloboma (2 eyes), aphakia after congenital cataract (1 eye), sex-linked juvenile retinoschisis (1 eye), and central retinal vein occlusion (1 eye), Conventional surgical procedures using episcleral or intrascleral implants or an encircling band combined with cryotherapy were used. After a follow-up of 7 months to 3.3 years (mean 1.5 years) the retina was flat in 18 cases (82%) and still detached in those with uveal coloboma (2 eyes), hereditary vitreoretinal degeneration (1 eye), and central retinal vein occlusion (1 eye). All traumatic detachments were flat.     

间接检眼镜在近视LASIK前眼底检查的意义

目的 分析LASIK术前近视眼中眼底双目间接检眼镜的特殊价值.方法 对994例(1976只眼)患者术前散瞳,应用双目间接检眼镜行眼底检查,并详细绘图记录.结果 1976只眼中视网膜病变372只眼(18.33%),在屈光度≥-6.00D的1399只眼中,视网膜病变313只眼,病变位于后极部7只眼,周边部365只眼.131只眼进行LASIK术前眼底光凝治疗,随访1年无一例发生视网膜脱离.结论 双目间接检眼镜在近视眼手术前常规视网膜检查中具有独特的优越性.     

LASIK术前周边视网膜变性的干预性光凝

目的探讨准分子激光原位角膜磨镶术（LASIK）术前对周边视网膜变性干预性激光光凝的方法和疗效。方法LASIK术前对近视眼常规行直接检眼镜、三面镜和间接检眼镜检查,对合并有明届的周边视网膜变性的近视眼行532nm激光干预性光凝渝疗。在变性区外光凝2～3排,光斑直径200～300μm,时间0．15～0．20s,光斑间距1．0～1．5个光斑,出现三级光斑为准。结果197例（231眼）视网膜变性,其中格子样变性163眼（70．56％）,霜样变性64眼（27．71％）,囊样变性4眼（1．73％）。激光光凝术后,视网膜变性及干性裂孔区封闭良好,色素斑形成明显。LASIK术后随访6～18个月,无发生视网膜脱离者。结论LASIK术前对周边部视网膜变性进行干预性光凝,是预防LASIK术后发生视网膜脱离的重要方法。     

孔源性视网膜脱离患者对侧眼检查及预防性治疗效果分析

目的:探讨孔源性视网膜脱离患者对侧眼发病危险性及预防性治疗的效果。方法:回顾分析我院2005-08/2007-10住院治疗的114例孔源性视网膜脱离患者的对侧眼眼底病变及预防性治疗情况。结果:在114例中对侧眼存在视网膜病变者31例(27.2%),其中46例高度近视者对侧眼眼底病变发生率高于非高度近视者(P<0.05)。对侧眼发生孔源性视网膜脱离者3例,单纯格子样变性18例,格子样变性合并视网膜干性裂孔3例,单纯囊样变性或其它变性7例。对侧眼发生视网膜脱离的3例,经治疗后视网膜全部复位;18例单纯格子样变性和3例格子样变性合并视网膜干性裂孔眼,行激光光凝或冷凝封闭视网膜变性区及裂孔。经3mo～2a定期随访,未发生新的视网膜裂孔、脱离及其它并发症。结论:孔源性视网膜脱离患者对侧眼发生视网膜变性或孔源性视网膜脱离的危险性高,尤其是高度近视患者;对侧眼发生视网膜病变时,及早采取相应的预防性治疗措施,可安全有效的阻止对侧眼视网膜脱离的发生,保持良好的对侧眼视力。     

同轴微切口超声乳化术后玻璃体后脱离的临床观察

目的:探讨同轴微切口超声乳化术后玻璃体后脱离(posterior vitreous detachment,PVD)的发展进程。方法:收集我院行同轴微切口超声乳化手术的917例患者临床资料,917眼手术眼组成观察组,917眼对侧眼组成对照组。所有患者术前均行全面的眼科检查,术后1wk;1,3,6,12mo随访,采用B超和裂隙灯联合+90D前置镜检查,记录有无PVD、视网膜变性、视网膜裂孔、视网膜脱离等情况。结果:观察组术后1wk;1,3,6,12mo累计PVD者分别是8眼(0.9%),31眼(3.4%),53眼(5.8%),78眼(8.5%),129眼(14.1%);129例PVD患者中,1a视网膜裂孔的发生率是7.8%(10/129);而未发生PVD的788眼中,只有1例(0.1%)存在视网膜裂孔,两者之间比较差异有统计学意义(P=0.009)。129例PVD中,有54例存在格子样变性,14.8%(8/54)的格子样变性眼1a内进展为视网膜裂孔,2.7%(2/75)的无格子样变性眼进展为视网膜裂孔,两者之间差异有统计学意义(P=0.004)。结论:同轴微切口超声乳化手术加快了PVD的进程。大约7.8%的PVD患者出现视网膜裂孔。存在格子样变性的患者发生视网膜裂孔的风险较不存在者高5.5倍。所以对同轴微切口白内障超声乳化术后患者进行长期随访十分必要。     

LASIK术前近视性视网膜病变特征分析与氩激光疗效评价

目的:分析LASIK术前检查发现的近视患者视网膜病变的特征,评价眼底氩激光光凝治疗的疗效与安全性。方法:回顾性研究,分析了施行LASIK术的连续性病例1 100例(2 190眼)的术前资料,在对所有患者术前扩瞳后以检眼镜、三面镜详细检查眼底周边视网膜情况并记录,对严重的视网膜病变如格变、囊样变、干性裂孔、视网膜浅脱离等予以氩离子激光光凝治疗,经随访稳定有效后再择期行LASIK手术。结果:视网膜病变及视网膜裂孔的发生率均随屈光度增加而提高,组间有显著性差异(P<0.05),颞侧病变比例高于鼻侧。在全部患眼的检查中,发现各类视网膜变性132眼,64眼发现格子样变性(48.48%)、37眼发现囊样变性(28.03%)、54眼发现霜样变性(40.91%)、34眼发现不压白变(25.76%)、12眼发现铺路石样变性(9.09%)、14眼发现干性裂孔(10.61%)、4眼发现裂孔伴局限性浅脱离(3.03%)。对出现较严重视网膜病变的43例患者(78眼)施行了眼底氩激光治疗。复诊时见激光斑反应明显、干性裂孔稳定,局限性浅脱离患者经2～4次激光,光凝后视网膜完全平复。对眼底经光凝后行LASIK的患者,在3～6mo复诊中无1例视网膜脱离发生。结论:LASIK术前对全部患者进行常规三面镜详查眼底是十分有必要,对发现的周边视网膜严重变性及时予以激光光凝能够有效防止视网膜脱离的发生。     

非外伤非增生性糖尿病视网膜病变玻璃体积血原因分析

目的：探讨非外伤非增生性糖尿病视网膜病变玻璃体积血的原因。

方法：对2009-07/2013-06在我科住院的46例46眼玻璃体积血病例资料进行回顾性病因分析。

结果：本组中视网膜静脉阻塞(RVO)所致玻璃体积血最多,为16眼(34.8%),其次为视网膜裂孔及孔源性视网膜脱离(RH/RD)8眼(17.4%),渗出型年龄相关性黄斑变性(EAMD)8眼(17.4%),再次为玻璃体后脱离(PVD)4眼(8.7%),其它少见原因为视网膜大动脉瘤3眼(6.5%)、高血压视网膜病变及视网膜静脉周围炎各2眼(4.3%),特发性息肉样脉络膜血管病变、脉络膜上腔出血、葡萄膜炎各1眼(2.2%)。

结论：视网膜静脉阻塞、视网膜裂孔及孔源性视网膜脱离、年龄相关性黄斑变性是非外伤非增生性糖尿病视网膜病变玻璃体积血的主要原因。     

激光光凝辅助角膜原位磨镶术前眼底病变分析及治疗

目的探讨近视LASIK术前眼底病变及治疗方法.方法对385例(721只眼)LASIK术前患者行散瞳眼底三面镜检查并作详细眼底记录.结果发现各种视网膜变性136只眼(18.86%),视网膜干性裂孔16只眼(2.22%),亚临床视网膜脱离(RD)5只眼(0.69%).其中37只眼严重视网膜变性、16只眼干孔和4只眼亚临床RD行氩激光光凝治疗,仅1例亚临床RD需行视网膜脱离手术.结论近视LASIK术前及术后眼底常规检查和病变治疗是必要的.同时本文提出眼底病变光凝的指征.     

Pathologic findings in pathologic myopia.

A retrospective study was conducted of 308 eyes with pathologic myopia obtained from 202 patients (23 surgical eyes; 285 post mortem eyes) over a 67-year period. Histopathologic findings and percentage of eyes affected, in decreasing order of frequency, were myopic configuration of the optic nerve head, 37.7%; posterior staphyloma, 35.4%; degenerative changes of the vitreous, 35.1%; cobblestone degeneration, 14.3%; myopic degeneration of the retina, 11.4%; retinal detachment, 11.4%; retinal pits, holes, or tears, 8.1%; subretinal neovascularization, 5.2%; lattice degeneration, 4.9%; Fuchs spot, 3.2%; and lacquer cracks, 0.6%. The reasons for enucleation in the surgically obtained eyes included, in decreasing order of frequency: degeneration after retinal detachment; secondary glaucoma; endophthalmitis; postsurgical epithelial ingrowth; expulsive hemorrhage; degeneration after cataract extraction; and presumed intraocular tumor. Clinicopathologic correlations are discussed.     

Naturally occurring animal models with outer retina phenotypes

Naturally occurring and laboratory generated animal models serve as powerful tools with which to investigate the etiology of human retinal degenerations, especially retinitis pigmentosa (RP), Leber congenital amaurosis (LCA), cone dystrophies (CD) and macular degeneration (MD). Much progress has been made in elucidating gene defects underlying disease, in understanding mechanisms leading to disease, and in designing molecules for translational research and gene-based therapy to interfere with the progression of disease. Key to this progress has been study of naturally occurring murine and canine retinal degeneration mutants. This article will review the history, phenotypes and gene defects of select animal models with outer retina (photoreceptor and retinal pigment epithelium) degeneration phenotypes.