遗传性黄色斑点状视网膜变性及黄斑变性一家系报告

遗传性黄色斑点状视网膜变性和黄斑变性在国内报告不多,现将我院遇到的一家系两代遗传性黄色斑点状视网膜变性(1例)和遗传性黄斑变性(3例)报告如下: 例1 徐×海男 26岁工人 11岁发病。家族史:家族5人,其母、弟共3人均患同样病,其父、祖父视力均良好,其祖母30岁时视力就不好。症状:双眼视力下降,昼盲,偏中心注视,间歇性外斜视。视力:右0.1近视力0.2(不能矫正),左0.1近视力0.2(不能矫正)。眼底变化:     

结晶样视网膜变性一家系

结晶样视网膜变性是一种少见的眼底病,系常染色体隐性遗传所致。本文就结晶样视网膜变性一家系3例报告如下。例1(先证者)女46岁自幼双眼视力好。从1970年以来,视力渐减,夜盲渐重,其他无异常。父已病故,母患白内障,祖孙三代均非血族婚姻。家族中,除弟(例2)和妹(例3)有相似病史外,余无视力     

结晶样视网膜变性一家系

结晶样视网膜变性一家系区伟垠（广东省高要市人民医院眼科，５２６０４０）笔者发现一家系５例结晶样视网膜变性，现报告如下。先证者黄××，女，２０岁。视力减退五六年，黄昏后视力更差，以至不敢外出走路。近３ａ视力减退明显，易视疲劳，曾验光配镜，视力无进步，遂...     

结晶样视网膜变性一家系

例1男，37岁。1977年发现夜间视物不清，视力逐渐下降，1979年诊断为双眼原发性视网膜色素变性，经药物治疗无效，症状日趋严重。1990年7月9日来我院。患者父母为姑表血族联姻，其弟(例2)亦患此病。溯患者上三代及其他兄妹无同样病史，患者既往体健，全身检查、常规血尿、肝功、均未见异常，     

两代近亲联婚致先天性白内障一家系

1991年3月我院发现一家系两代近亲联婚,3代患先天性白内障4例,现报告如下。先证者(Ⅶ_(?))博×女性11岁住院号15599 自幼双眼视物不清。两眼视力均为50cm 指数。晶体混浊呈圆盘状,由大小不等的白色点状混浊组成。晶体周边部混浊较厚,晶体中央部较周边部透明。眠底模糊不清。本家系调查17人,男9人,女8人,共4代,询8代,第3及第5代为姑表兄妹联婚。家谱分析:二代姑表兄妹联婚。子代中有先天性白内障患者,其双亲之一也患此病,发病率约占40—50%。子代未患病的第三代也未再发病。连续几     

先天性视网膜劈裂一家系报告

先天性视网膜劈裂是性染色体遗传疾病。笔者曾遇到一家系，现报告如下。     

高度近视直接传代一家系

病例 1:女 ,70岁。双眼无痛性视力渐降 10余年入院。自幼觉视力差。体检 :全身体检无异常发现。专科检查 :ＶＯＤ:ＦＣ/ 10ｃｍ ,ＶＯＳ:ＨＭ/ 30ｃｍ ,双眼前节无炎症 ,晶状体核混浊呈结晶颗粒状 ,眼底窥不清 ,眼Ａ/Ｂ超检查示 :右眼眼轴32 .13ｃｍ ,左眼眼轴 30 .6 8ｃｍ。后极部巩膜葡萄肿。角膜曲率右眼 4 9.81Ｄ ,左眼 4 9.6 9Ｄ ,入院诊断 :双眼高度近视并白内障。入院后在局麻下行双眼ＥＣＣＥ(因无 +2 .0 0ＤＩＯＬ故未植入ＩＯＬ) ,术中皮质极难清除。术后裸眼视力右眼ＦＣ/ 10ｃｍ ,左眼ＦＣ/ 1ｍ ,矫正视力右眼 +6 .0 0ＤＳ→ 0 …     

白点状视网膜变性合并高度远视一家系

白点状视网膜变性，临床并不少见，但同时合并高度远视，且遗传倾向明显者罕见。最近我在临床上见到一家2代5人同患此病。现报告如下。     

高度近视黄斑病变相关因素分析

目的 探讨高度近视黄斑病变的相关因素对患者的诊断以及指导临床治疗的意义.方法 对2014年6月至2015年5月101例高度近视黄斑病变患者进行相关眼科辅助检查,并对结果进行分析.结果 随访前后根据视力与黄斑病变相关性分析结果,二者存在负相关性(r=-0.712,P＜0.01),从屈光度与高度近视黄斑病变的相关性分析结果可以看出,二者没有相关性P =0.300(P＞0.01).从眼轴长度与高度近视黄斑病变的相关性分析结果可以看出,二者存在相关性P =0.002(P＜0.01),从脉络膜萎缩弧面积与高度近视黄斑病变的相关分析结果看出二者也存在相关性P =0.001(P＜0.01),结论 眼轴长度与脉络膜萎缩弧面积等因素和高度近视黄斑病变具有相关性,在临床诊治中及时给予患者有效的临床干预,改善患者预后.     

Progressive cone-rod dystrophy and high myopia in a Finnish family

Progressive cone-rod dystrophy was diagnosed in a 35-year-old man (the proband). In the family study, 29 of the relatives were examined. The brother of the proband was also found to have cone-rod dystrophy. In the family of the mother of the proband, there were four men who had high myopia possibly connected with cone-rod dystrophy. The other relatives had no signs of cone-rod dystrophy or high myopia. The relatives not examined were reported healthy with no eye trouble. The disorder could be autosomal recessive hereditary if only the confirmed cone-rod dystrophy of the proband and his brother is taken in consideration. However, no relationships between the families of the mother and father of the proband could be found going back to the year 1830. Therefore, the autosomal recessive inheritance was not established. The most probable mode of inheritance would be X-chromosomal recessive if high myopia and cone-rod dystrophy are thought to be parts of the same syndrome.     

高度近视周边视网膜变性的预防性激光治疗

目的 观察高度近视眼的周边视网膜变性和/或裂孔进行预防性光凝的疗效。 方法 散瞳检查高度近视眼眼底,发现周边视网膜变性和/或裂孔206只眼,予以预防激光治疗。 结果 实行视网膜变性预防性光凝的患者,接受LASIK手术后,随访一年无一例发生视网膜脱离,矫正视力没有变化。 结论 视网膜变性激光预防性光凝对预防视网膜脱离至少在角膜屈光手术后近期观察中是安全有效的方法。 (中华眼底病杂志, 1999, 15: 135-136)     

光学离焦性近视眼视网膜pax-6基因表达的研究

目的 研究幼猴光学离焦性近视眼发生、发展过程中视网膜pax-6 基因的表达情况，探讨pax-6基因是否参与近视眼的发生、发展和正视化过程。 方法 选用猴龄为1~3个月的恒河猴9只，采用配戴眼镜或施行角膜屈光手术的方法，造成幼猴视网膜光学离焦。用反转录聚合酶链反应及定量分析方法检测不同时间视网膜pax-6基因的表达，并与非光学离焦眼进行比较。 结果 远视性光学离焦导致幼猴玻璃体腔增长速度加快，形成近视眼，其视网膜pax-6 基因表达量明显比正常对照眼高（t=3.480，P=0.004）。 结论 远视性光学离焦幼猴的视网膜pax-6 基因表达明显增加，表明pax-6基因可能参与视觉依赖的眼球生长和正视化过程。 （中华眼底病杂志，2003，19：201-268）     

不同类型黄斑裂孔周边视网膜变性的比较

目的 比较高度近视性(＞-6.00 D)黄斑裂孔和外伤性黄斑裂孔的患眼周边视网膜变性区的发生情况.方法 行玻璃体切割术的黄斑裂孔患者106例(106眼),分为两组:A组为高度近视性黄斑裂孔组,68例(68眼);B组为外伤性黄斑裂孔组,38例(38眼).所有患者均进行术前三面镜和玻璃体切割术中对周边视网膜检查,以确认周边视网膜的变性情况.结果 A组中周边视网膜有变性区者52眼,占76.47％;B组中周边视网膜有变性区者8眼,占21.05％.两组周边视网膜变性区的发生率比较,差异有统计学意义(x2=30.48,P=0.000).A组周边视网膜有变性区的52眼中,非压迫变白者42眼,检出率为61.76％;格子样变性44眼,检出率为64.71％;囊样变性19眼,检出率为27.94％;其他类型变性15眼,检出率为22.06％.B组周边视网膜有变性区的8眼中,非压迫变白者6眼,检出率15.79％;格子样变性7眼,检出率18.42％;囊样变性4眼,检出率10.53％;其他类型变性2眼,检出率5.26％.结论 外伤性黄斑裂孔其周边视网膜变性的发生率比高度近视黄斑裂孔明显较少.     

儿童隐匿性高度近视黄斑区视网膜厚度分析

目的：观察分析隐匿性高度近视儿童黄斑区视网膜厚度变化及其相关因素。

方法：前瞻性非随机对照研究。选取2019-09/2020-09在承德医学院附属医院眼科门诊首次就诊且未进行过任何近视矫正训练的儿童56例110眼纳入研究,根据儿童近视的临床表现分为隐匿性高度近视组(27例52眼)和对照组(29例58眼,普通近视儿童)。比较两组儿童黄斑各分区视网膜厚度情况,分析隐匿性高度近视儿童黄斑中心凹平均视网膜厚度与基线资料的相关性。

结果：隐匿性高度近视儿童黄斑区视网膜厚度以黄斑中心凹最薄,内环区上方最厚。隐匿性高度近视组儿童黄斑9个分区平均视网膜厚度均较对照组变薄,其中黄斑中心凹、外环区下方和颞侧处视网膜厚度有显著差异(均P<0.05)。随着隐匿性高度近视儿童屈光度的增高,黄斑各分区的平均视网膜厚度值均降低。与对照组相同屈光度儿童比较,隐匿性高度近视组除0.00D≤屈光度≤-1.00D儿童外环区颞侧、-2.00D<屈光度≤-3.00D儿童黄斑中心凹平均视网膜厚度有明显差异(均P<0.05),其余各分区平均视网膜厚度均无差异(P>0.05)。Pearson相关分析结果显示,隐匿性高度近视儿童黄斑中心凹平均视网膜厚度与性别、年龄、眼轴、眼压、角膜曲率均无相关性(P>0.05),与屈光度呈负相关性(r=-0.201,P<0.05)。

结论：隐匿性高度近视儿童黄斑视网膜厚度以黄斑中心凹最薄,内环区上方最厚,黄斑各分区平均视网膜厚度较相应屈光度数近视儿童薄。隐匿性高度近视儿童黄斑中心凹平均视网膜厚度与屈光度呈负相关。     

A metabolic analysis of high myopia and senile macular degeneration

Abnormal zinc and copper metabolism have been described in several retinal disorders affecting the retinal pigment epithelium. An infrequent presentation of senile macular degeneration in high myopia is well known. We examined the blood for zinc and copper and the urine for copper of three groups of patients, one consisting of high myopia, another with high myopia and primary retinal detachment and the other a group of patients with senile macular degeneration. When comparing the above groups of patients, we found statistically elevated values of serum zinc (p = less than 0.005) in the group of patients with senile macular degeneration. The significance of these findings, and a correlation with the pathogeneses of high myopia and senile macular degeneration is discussed.     

Impact of family history of high myopia on level and onset of myopia

PURPOSE: To investigate the impact of a positive family history of high myopia on the level and onset of myopia and its ocular components. METHODS: A cross-sectional study was conducted. The participants (aged 17 to 45 years) were categorized into four groups: normal, mild, moderate, and high myopia. The age of first glasses for myopia was used as the onset of myopia. The impact of the family history on the level and the onset of myopia was quantified. Parental effect on corneal curvature (CC), anterior chamber depth (ACD), and axial length (AXL) was analyzed. RESULTS: The study included 185 normal subjects, 170 mild, 140 moderate, and 392 high myopes. Family history was strongly associated with the probands' status (P < 6 x 10(-12)). When there was >or=1 highly myopic parent, the odds ratios (ORs) of developing mild or moderate myopia were between 2.5 and 3.7 (95% CI: 1.1-6.5) and the ORs of having high myopia were > 5.5 (95% CI: 3.2-12.6). A strong association (P = 2 x 10(-6)) between parental myopic state and the AXL in the subjects was also found, but there was no statistical relationship for ACD or CC. There was an association between high myopia in parents and the onset of myopia in children. Siblings had a weaker association with the level of myopia and had no effect on the onset of myopia. CONCLUSIONS: This study found strong familial effects on the level and onset of myopia even after adjusting for environmental factors. The parental effect on ocular components in their offspring was primarily on AXL.