Ocular Involvement in Xeroderma Pigmentosum

A 37-year-old, white woman with xeroderma pigmentosum had reduced vision for many years because of primary and secondary corneal epithelial edema and stromal haze. Corneal grafting was required, but was not successful. Numerous primary dermal tumors of various types involving the lids of both eyes had been excised surgically or treated by freezing with liquid nitrogen. Squamous cell carcinomas involving the limbal area of the globe and adjacent tissues were excised from the left eye at age 12, the right eye at age 32, and the left eye (again) at age 36. The right limbal tumor soon recurred and invaded the orbit despite radiation treatment; this required right orbital exenteration. The second left limbal tumor recurred one year later, soon after the recurrence of a left lower lid basal cell carcinoma. Left orbital exenteration was required. Corneal graft failures and recurrent ocular squamous cell carcinoma involving the eye in xeroderma pigmentosum can be difficult management problems.     

Corneoscleral locally aggressive fibrous histiocytoma in Xeroderma Pigmentosum patient: A case report

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder that has been found in all continents and racial groups in relation to faulty repair of DNA with sun exposure. Several cutaneous and ocular tumors have been described in relation to XP including fibrous histiocytoma (FH). The diagnosis of conjunctival FH is challenging owing to the rarity of this tumor and the diversity of its classification into benign, locally aggressive and malignant. We are describing a recurrent FH exhibiting a locally aggressive behavior in a child with history of XP. Detailed histopathological features are presented with literature review.     

Macular and Retinal Nerve Fibre Layer Thinning in Xeroderma Pigmentosum: A Cross-sectional Study

The purpose of this study was to evaluate retinal thickness in different Xeroderma Pigmentosum (XP) complementation groups using spectral-domain optical coherence tomography (SD-OCT).

This was a cross-sectional pilot study of 40 patients with XP. All patients had healthy-looking retinae and optic nerves on slit lamp biomicroscopy, and subtle or no neurological deficits. Patients were divided into two groups based on the known tendency for neurodegeneration associated with certain XP complementation groups. A third control group was obtained from a normative database. Using SD-OCT, we compared peripapillary retinal nerve fibre layer (pRNFL) and macular thickness between the groups.

XP patients with a known tendency for neurodegeneration were found to have a statistically significant reduction in both pRNFL (p < 0.01) and macular thickness (p < 0.001) compared with healthy controls. In contrast, there was no statistically significant difference between pRNFL and macular thickness in XP patients not expected to develop neurodegeneration compared to the same control group. When both XP groups were compared, a statistically significant reduction in total pRNFL (p = 0.02) and macular thickness (p = 0.002) was found in XP patients predisposed to neurodegeneration.

Our results suggest that pRNFL and macular thickness are reduced in XP patients with a known tendency for neurodegeneration, even before any marked neurological deficits become manifest. These findings demonstrate the potential role of retinal thickness as an anatomic biomarker and prognostic indicator for XP neurodegeneration.     

1. Tamoxifen Retinopathy: A Clinicopathologic Report

A 57-year-old woman with metastatic breast carcinoma treated by surgery and high-dosage tamoxifen chemotherapy developed tamoxifen retinopathy characterized by white superficial retractile retinal lesions primarily in the paramacular area. At postmortem examination, the retinal lesions seen clinically were identified as being 3 to 10 microns in diameter in the macular area, and 30 to 35 microns in diameter in the paramacular area. The lesions were confined to the nerve fiber layer and inner plexiform layer and stained positive with stains for glycosaminoglycans. Electron microscopic examination revealed that the smaller lesions were intracellular and the larger lesions extracellular. The lesions were composed of randomly oriented branching electron dense 6-nm filaments accompanied by occasional electron dense coated vesicles measuring 60 to 70 nm in diameter. The lesions appeared to be occurring in axons and seemed to represent products of axonal degeneration.     

双眼透明边缘角膜变性一例

患者,男,36 岁,因“双眼视力下降半年余”于我科就诊。患者自述半年来双眼视力渐进性下降,矫正视力不佳,不伴眼红、眼痛、眼胀、畏光、流泪等症状。既往近视20余年,约-7.5 D,度数稳定,矫正视力可达1.0。否认眼病家族史,个人史无特殊。门诊行视力检查：右眼裸眼视力（UCVA）0.15,经-13.00-7.50×75矫正至0.3+1,左眼UCVA 0.15,经-12.00-7.50×80矫正至0.3。眼压（iccare回弹眼压计测量）检查：右眼9 mmHg（1 mmHg=0.133 kPa）,左眼7 mmHg。双眼结膜无充血,双眼角膜透明,下方4-8 点位角膜带状变薄,变薄带与角膜缘间有2 mm宽的正常角膜,变薄带上方角膜曲率增大,角膜膨隆（见图1A）。直接检眼镜下双眼眼底模糊,视盘边界清、颜色尚可,C/D约0.5。     

Optic Nerve Meningeal Hemangiopericytoma: A Clinicopathologic Case Report

A 36-year-old woman presented with progressive loss of vision in the left eye for 3 years, and rapid progression and painful protrusion of the eye for one month. Clinical evaluation revealed no light perception, severe proptosis and hypoglobus, optic atrophy, and optociliary shunt vessels. Orbital imaging showed a well-defined heterogeneous intraconal mass partially encasing the optic nerve. A clinical diagnosis of optic nerve sheath meningioma was made, and the tumor was completely excised along with enucleation, followed by postoperative adjuvant external beam radiotherapy. There was no local recurrence at 15 month follow-up. Histopathologically, the tumor was found to be arising from the optic nerve meninges with classical “stag-horn” pattern and abundant cellularity. Immunohistochemistry supported the histopathological diagnosis of hemangiopericytoma. Optic nerve meningeal hemangiopericytoma is extremely rare—only two such cases have been reported in the literature.     

Oncocytoma of the Caruncle: A Clinicopathologic Case Report

Background: Oncocytoma is an uncommon, relatively benign tumor, composed of transformed epithelial cells of the ducts. We report a case of oncocytoma of the caruncle. Methods Case report. Results: A 51-year-old woman with a 2 years history of a mass located in the caruncle of her right eye was presented. Surgical excision was then performed, and the histological diagnosis of oncocytoma was established. Conclusion: The oncocytoma should be considered in the differential diagnosis of a caruncular mass in elderly people, particularly in female patients.     

Corneal Confocal Microscopy Anomalies Associated with Cowden Syndrome: A Case Report

Purpose

To describe bilateral corneal alterations through confocal microscopy in a patient affected by Cowden syndrome (CS).

Methods

Evaluation of Schirmer''s, fluorescein, and lissamine green dye tests. Confocal microscopy was performed in both eyes to investigate corneal abnormalities.

Results

Slit lamp observation showed the focal involvement of anterior stromal and epithelial layers. Schirmer''s, fluorescein, and lissamine green dye test results were regular, while corneal confocal examination confirmed the disorganization of anterior stromal and epithelial layers in both eyes.

Conclusion

CS is a rare autosomal-dominant systemic disorder. In our case, confocal analysis revealed predominance of alterations in the anterior stromal corneal layer, showing an increase of reflectivity, and a totally unstructured architecture in the epithelium layer. Even though the main purpose remains the prevention and the early diagnosis of different systemic tumors that could occur in affected patients, corneal confocal evaluation could play an important role in the early diagnosis of this rare disease.Key words: Corneal alterations, Corneal confocal microscopy, Cowden syndrome, Multiple hamartoma syndrome     

角膜接触镜引起的角膜地形图的改变

应用电子计算机辅助的角膜地形图检测仪对２２眼戴角膜接触镜患者去除接触镜的１天、２周、３周分别进行角膜地形图检测，发现接触镜可引起角膜的ＳＲＩ，ＳＡＩ及形态、屈光的改变，且这种改变在去除接触镜后可以逐渐恢复正常。接触镜引起角膜地形图改变的分析的意义：鉴别临床前期的圆锥角膜，为角膜屈光手术提供真实的角膜形态和手术时间的选择。     

年龄因素对成年人角膜厚度的影响

目的：探讨不同年龄段成年人角膜厚度的差异。方法：横断面研究。选择2015 年8-12 月就诊于青岛大学附属医院眼科的近视及白内障患者300 例（300 眼）。按年龄分为3 组：青年组96 例,平均年龄（26.4±5.5）岁;中年组86 例,平均年龄（62.1±6.8）岁;老年组118 例,平均年龄（79.2±5.6）岁。应用Galilei眼前房分析系统测量各组的角膜厚度。对各组中央角膜厚度（CCT）、旁中央角膜厚度（PaCT）、周边角膜厚度（PeCT）及角膜最薄点厚度（TCT）等指标进行比较分析。采用单因素方差分析、Kruskal-Wallis H秩和检验、Pearson相关分析及Spearman相关分析对数据进行分析。结果：3 组间CCT、PaCT差异均无统计学意义。PeCT总体差异有统计学意义（H =39.12,P < 0.001）,且青年组PeCT均比中年组和老年组PeCT厚（P < 0.05）。3组间TCT总体差异有统计学意义（H=31.63,P < 0.001）,且青年组TCT比中年组TCT厚（P =0.002）,中年组TCT比老年组TCT厚（P =0.002）。在各组内,中年组PeCT与年龄呈负相关（r =-0.288,P =0.007）,青年组、老年组的CCT、PaCT、PeCT、TCT与年龄均无相关性。对于总体,CCT、PaCT与年龄无相关性,而PeCT、TCT与年龄均呈负相关（r =-0.369、-0.343,P < 0.001）。结论：成年人的CCT、PaCT不随年龄的变化而改变,PeCT、TCT随年龄增长有变薄的趋势。     

小梁切除术后角膜地形图的改变

用角膜地形图仪检测了１４眼施行小梁切除术后角膜的屈光改变，发现术后角膜垂直方向的屈光力增加，水平方向的屈光力减少，即产生循规性散光，增加的幅度比减少的幅度大，不但对周边角膜有影响，对中央区也有同样的影响，产生循规性散光可能与缝线及眼压有关。     

虹膜激光周切术后角膜内皮失代偿修复一例

患者,女,56 岁。3 年前曾在当地医院行双眼虹膜激光周切术,术后不久左眼即出现反复眼红、眼痛、视物模糊,至当地医院就诊,给予局部药物治疗,具体不详。患 者自诉无明显好转,眼红、眼痛、视物模糊等症状持续存在。     

Corneal Topographical Changes Flollowing Strabismus Surgery

Purpose: To study corneal topographical changes after strabismus surgery. Methods: Computer-aided corneal topography was used in 43 strabismus patients (45 eyes) one or two days prior to and six or seven days after strabismus surgery. The spherical and cylindrical equivalents were calculated based on the simulated keratome-try.Results: After the surgery, only the changes at 3mm in the inferior quadrant were statistically significant. The changes at 3mm in the rest quadrants and the changes at 7mm were not significant. Significant changes in spherical equivalent were found post-operatively. Neither the horizontal nor the vertical meridional equivalent showed significant changes after surgery.Conclusions: The results of corneal topographical changes following strabismus surgery in our preliminary study indicated the little effect of strabismus surgery on corneal curvature and corneal astigmatism. Eye Science 1999; 15: 174 - 178.     

New Corneal Findings in Chromosome 10 Deletion Syndrome: Report of Two Cases of Corneal Ectasia of Varying Severity

Abstract

Purpose: To describe corneal changes associated with chromosome 10 terminal deletion (chromosome 10, monosomy 10qter) syndrome. Methods: Report of two cases of bilateral corneal ectasia with literature review. Results: Corneal pathology has not previously been reported in the limited number of case reports on 10qter syndrome. However, Rodrigues et al.¹ have reported sclerocornea in 10q translocation. Conclusions: Ophthalmic manifestations of 10qter syndrome include strabismus, lid, and facial anomalies. We present two cases of corneal ectasia of varying severity. Possible etiologies include the following: secondary to genetic factors, acquired corneal exposure during sleep, or possible intrinsic immunocompromise exacerbating ocular surface infections. Corneal ectasia with specific histological changes is a feature of various genetic disorders (e.g., Down’s, Ehler’s Danlos, and Marfan’s syndromes). It is unknown whether genetics plays a role in the development of corneal changes in 10qter syndrome. Management of inflammation and visual rehabilitation in these patients poses a therapeutic challenge.     

Corneal Endothelial Changes in Primary Acute Angle-closure Glaucoma

In 20 patients, corneal endothelium was examined by specular microscopy after acute angle-closure glaucoma, and before any surgical treatment in order to assess possible damage during pressure induced abnormal hydration of the cornea. The mean intraocular pressure was elevated to 55 mm Hg and had lasted, on an average, 47 (5–192) hours. The mean endothelial cell density in the affected eye was 1534 and in the nonaffected fellow eye 2243 cells/mm² (mean decrease 33%, P = 0.002). The amount of cell loss correlates with the duration of the intraocular pressure increase. Thirty-five percent of these patients presented a bilateral cornea guttata. This high incidence of endothelial dystrophy was confirmed in a retrospective specular microscopic study in 20 patients with a history of unilateral acute angle-closure glaucoma. The decreased number of endothelial cells after acute angle-closure glaucoma frequently combined with bilateral cornea guttata, accounts for the corneal degeneration in these patients following a later cataract extraction.     

白内障超声乳化摘除及人工晶体植入术后角膜内皮变化

目的评价白内障超声乳化术对角膜内皮细胞损伤情况。方法使用非接触式角膜内皮显微镜观察20眼白内障超声乳化摘除及35眼现代囊外摘除（均合并入工晶体植入）术前、术后三个月角膜中央区内皮细胞变化。结果白内障超声乳化角膜内皮损失率均值为20．8％，现代囊外术组为29．6％，两组经统计学处理无显著性差异（P＞0．05）；内皮细胞形态学仅表现为外形的扩大。结论白内障超声乳化术对角膜内皮的损伤并不大于现代囊外术。