A novel iris transillumination grading scale allowing flexible assessment with quantitative image analysis and visual matching

Purpose: To develop a sensitive scale of iris transillumination suitable for clinical and research use, with the capability of either quantitative analysis or visual matching of images.

Methods: Iris transillumination photographic images were used from 70 study subjects with ocular or oculocutaneous albinism. Subjects represented a broad range of ocular pigmentation. A subset of images was subjected to image analysis and ranking by both expert and nonexpert reviewers. Quantitative ordering of images was compared with ordering by visual inspection. Images were binned to establish an 8-point scale. Ranking consistency was evaluated using the Kendall rank correlation coefficient (Kendall’s tau). Visual ranking results were assessed using Kendall’s coefficient of concordance (Kendall’s W) analysis.

Results: There was a high degree of correlation among the image analysis, expert-based and non-expert-based image rankings. Pairwise comparisons of the quantitative ranking with each reviewer generated an average Kendall’s tau of 0.83 ± 0.04 (SD). Inter-rater correlation was also high with Kendall’s W of 0.96, 0.95, and 0.95 for nonexpert, expert, and all reviewers, respectively.

Conclusions: The current standard for assessing iris transillumination is expert assessment of clinical exam findings. We adapted an image-analysis technique to generate quantitative transillumination values. Quantitative ranking was shown to be highly similar to a ranking produced by both expert and nonexpert reviewers. This finding suggests that the image characteristics used to quantify iris transillumination do not require expert interpretation. Inter-rater rankings were also highly similar, suggesting that varied methods of transillumination ranking are robust in terms of producing reproducible results.     

Hermansky-Pudlak syndrome (HPS): An epidemiologic study

A study of albinism in Puerto Rico identified 693 persons with albinism. Among these, the type of albinism was determined in 595, Hermansky-Pudlak syndrome (HPS) was found in 495. Approximately five of every six Puerto Rican albinos had HPS. The highest prevalence of HPS yet reported was in the northwestern quarter of the island where at least 1 in 1,800 persons had HPS, and approximately 1 in 21 were carriers. The HPS albino pigment phenotype was variable, and HPS albinos phenotypically resembled other types of oculocutaneous and ocular albinos. Ceroid storage was also variable. The consistent finding in HPS was storage pool deficient platelets. HPS is best diagnosed by lack of platelet dense bodies seen by electron microscopy. Evidence from family studies indicates that HPS is a distinct disorder due to the pleiotropic effects of a single gene mutation or a small deletion.     

Ocular anomalies in an infant with Klinefelter Syndrome

Klinefelter syndrome is caused by the presence of one or more additional X chromosomes in an affected male. Patients often exhibit gynecomastia, small testes, and infertility. Though the characteristics of Klinefelter have been well-documented, associated ocular abnormalities have been only occasionally reported. Here we present a 2-month-old infant with Klinefelter syndrome and a unique combination of ocular abnormalities including microphthalmia, cataracts, and malformed pupils.     

The contralateral eye in the iridocorneal endothelial (ICE) syndrome

Examination of six cases of iridocorneal endothelial (ICE) syndrome revealed that all the patients had subclinical abnormalities in the fellow eye. Of the six, four patients had iris transillumination, four patients had significantly decreased outflow facility but without elevation of intraocular pressure, and all patients had corneal endothelial changes as noted by specular microscopy. The asymmetric rather than unilateral involvement and the similar histopathology to posterior polymorphous dystrophy suggested that these two diseases may share a common pathogenesis. The occurrence of features of Rieger's syndrome and Axenfeld's anomaly in association with posterior polymorphous dystrophy suggested the hypothesis that all these diseases may be characterized by abnormalities of tissues derived from neural crest cells. A unifying hypothesis is presented to explain this group of diseases involving the endothelial cells lining the anterior chamber, namely corneal and trabecular meshwork endothelium, anterior iris stroma and iris melanophores.     

Ocular Findings in Turner Syndrome: A Prospective Study

We performed complete ophthalmological examinations of 30 consecutive patients with Turner syndrome. Twenty-three had 45XO and 7 had 45XO/46XX karyotypes (mosaicism). Non-familial strabismus was the most prominent ocular abnormality and was present in 33% of the patients. Other eye findings included ptosis (16%), hypertelorism (10%), epicanthus (10%), and antimongoloid slants (10%). Red-green color deficiency was found in 10% of the patients. One patient had congenital periodic alternating nystagmus.     

Ocular Angiographic Findings in Patients with Neurofibromatosis Type 1

Purpose: To describe the ocular angiographic findings in patients with Neurofibromatosis type 1 (NF-1). Methods: We examined 20 consecutive patients diagnosed with NF1 by conventional ophthalmoscopy and fluorescein angiography (FA), indocyanine green angiograms (ICGA) were also obtained from 11 of the patients. Forty FAs and 25 ICGAs were also obtained from age-matched controls. Results: Fluorescein angiography revealed patchy hyperfluorescence in 30%, retinal pigment epithelial (RPE) atrophy in 30%, “corkscrew” vessels in 50%, optic disc abnormalities in 25% and choroidal nevi in 30% of the patients. All the patients investigated by ICGA (n = 11) demonstrated hypofluorescent lesions corresponding to the patchy hyperfluorescence on fluorescein angiography. None of the control patients had any of the findings described neither on FA nor on ICGA. Conclusion: Because of their high frequency (100%), the hypofluorescent lesions on ICGA should be added as a new diagnostic criterion in NF1. RPE atrophy and the high frequency of optic disc abnormalities appear to be novel findings in patients with NF-1.     

Ocular Features in Chinese Patients with Blau Syndrome

ABSTRACT

Purpose: To identify pathogenic gene variants in the NOD2 gene and assess the clinical features of a cohort of Chinese patients affected with Blau syndrome.

Methods: Eight patients from seven unrelated families were enrolled. Detailed ophthalmological examinations were performed. Sanger sequencing was used to analyze the NOD2 gene.

Results: The onset age of ocular manifestations varied from 2 to 24 years (median: 5.5 years). Best corrected visual acuity (BCVA) ranged from light perception (LP) to 1.0. One patient presented with recurrent anterior uveitis, six patients had panuveitis and one patient was at the phthisis bulbi stage. One novel disease-associated variant (c.2006A>G, p.His669Arg) and four previously reported disease-causing variants (c.1000C>T, p.Arg334Trp; c.1001G>A, p.Arg334Gln; c.1442G>A, p.Gly481Asp; c.1759C>T, p.Arg587Cys) in the NOD2 gene (NM_022162.1) were identified.

Conclusions: Blau syndrome is a rare autosomal dominant multisystem disease caused by a NOD2 gene defect. Recurrent anterior uveitis and/or panuveitis are the characteristic ocular findings.     

Ocular Features in 16 Brazilian Patients with Williams-Beuren Syndrome

Objectives: Williams-Beuren Syndrome (WBS) is a multisystem disorder caused by the deletion of contiguous genes on chromosome 7q11.23. Ophthalmologic abnormalities and deficits in visual motor integration are important features of WBS. Here we describe our experience with Brazilian WBS patients and their ophthalmologic features.

Methods: Sixteen patients with confirmed WBS went through thorough ophthalmologic examination.

Results: The most frequent ocular findings in our group of patients were stellate iris pattern (81.2%), hyperopic astigmatism (50%), hyperopia (37.5%), tortuosity of retinal vessel (37.5%) and strabismus (18.7%).

Conclusions: This is the second report of ophthalmologic abnormalities in a group of Brazilian individuals with WBS. It is extremely valuable that specific populations are studied so that clinical diagnosis can be refined and management of patients can be driven to the most common presentations of the disease.     

Ocular Findings in Patients with Autoimmune Liver Disease

Purpose: This is a collaborative study from the ophthalmology and gastroenterology departments of a tertiary care hospital, designed to investigate the ocular features in patients with autoimmune liver disease (ALD).

Methods: Seventy-two eyes of 36 patients with ALD, and 40 eyes of 20 controls with normal ocular findings were evaluated. Schirmer test, tear film break-up time, pachymetry, macular thickness with optic coherence tomography, and optic nerve head analysis with the HRT III were performed in addition to complete ophthalmologic examination.

Results: Of the 36 patients, 31 were female (86.1%) and 5 were male (13.9%). The average age of patients was 47.7?±?13.3 years (21–76 years). Autoimmune hepatitis in 22 patients (61.1%), primary biliary cirrhosis in 10 patients (27.8%), and primary sclerosing cholangitis in 4 patients (11.1%) were detected as etiologic causes. Cataract was seen more often in the study group. Tear film break-up time and Schirmer test results were significantly lower in the study group than in the controls. Other parameters were not different from control group.

Conclusions: ALD showed a marked preponderance of females, with sex ratios of 6 females per male supportive to literature. The basal tear secretion and tear film stability are lower, and the dry eye symptoms are more common among the cases with ALD.     

Ocular Posterior Segment Involvement in Patients with Antiphospholipid Syndrome and Systemic Lupus Erythematosus

ABSTRACT

Purpose: To describe posterior segment findings of antiphospholipid syndrome (APS) and compare them with systemic lupus erythematosus (SLE).

Methods: A total of 11 patients with primary APS, 29 secondary APS patients, and 29 SLE patients without APS were included. All patients were referred from rheumatology clinic for detailed ophthalmologic examination. When patients had suspicious lesions, fundus fluorescein angiography was performed (n = 56).

Results: The most common retinal examination finding was peripheral venous tortuosity (17.5%) in APS, which was not observed in SLE group. Common FFA findings were pigment epithelial window defects (10%) and vascular filling delays (7.5%) in APS, which were observed in 27.5% and 3.5% of patients with SLE consecutively.

Conclusion: Venous tortuosity was significantly more in patients with APS. There was no significant difference for other ocular findings between the groups. Ocular complication rate was lower compared to earlier reports, probably due to better management of disease activity with current treatment protocols.     

Ocular Inflammatory Disorders in Autoimmune Lymphoproliferative Syndrome (ALPS)

Purpose: To describe inflammatory ocular findings in patients with autoimmune lymphoproliferative syndrome (ALPS).

Methods: A retrospective review of medical records for ALPS patients seen at the National Eye Institute between 2003 and 2013.

Results: A total of 29 ALPS patients previously referred for ocular or visual symptoms or with a history of prolonged corticosteroid use, were identified. Mean age was 20 years (range: 4–66 years). The majority were male (n = 21, 72.4%) and Caucasian (n = 24, 82.8%). Ten (34.5%) had abnormal ocular findings, the most common of which was an ocular inflammatory disorder (n = 4, 13.8%). Uveitis was seen in two patients with ALPS-FAS and one with ALPS-U, all of whom required long-term systemic immunosuppression. One patient with ALPS-FAS had a history of optic neuritis.

Conclusions: ALPS can have intraocular inflammatory manifestations that require routine follow-up to ensure appropriate and timely treatment of intraocular disease. Long-term immunosuppression may be needed for patients with ALPS-associated uveitis.     

Decreased Endothelial Permeability in the Iridocorneal Endothelial Syndrome

Five patients with the iridocorneal endothelial (ICE) syndrome were examined by fluorophotometry. All patients had typical abnormal corneal endothelium, peripheral anterior synechiae, and distortion of the iris (pupillary irregularity or anterior stromal traction tears) in one eye only. Fluorescein was deposited in the superior cornea of both eyes by iontophoresis, and the cornea and anterior chamber concentrations and total mass of fluorescein were measured hourly over the ensuing eight hours. In all five patients, the endothelial permeability to fluorescein was within normal limits in the normal eye. In four of the five abnormal eyes, endothelial permeability was markedly decreased. In these four patients, the permeability to fluorescein in the normal eye was approximately six times that in the abnormal eye. In the fifth patient, the endothelial permeability was normal in both eyes. The central corneal thicknesses were normal in both eyes of all five patients. These results indicate that in many eyes with the ICE syndrome, corneal endothelial permeability to solutes is markedly decreased. Decreased endothelial permeability to solutes has not been documented previously in any clinical corneal disorder and may be of importance in the pathophysiologic changes that accompany endothelial disease.     

小梁切除术治疗色素性青光眼的中远期疗效

目的:观察小梁切除术治疗色素性青光眼的中远期临床效果。方法:回顾性分析2010-01/2022-09于云南大学附属医院行小梁切除术治疗的色素性青光眼患者38例51眼的临床资料。术后随访3～144mo,分析纳入患者的眼压、视力及屈光状态,记录并发症情况,评估手术疗效。结果:纳入患者术前平均使用降眼压药物种类2.90±0.12种,平均眼压18.89±7.40mmHg,术后3d, 1、3、6mo, 1a、末次随访时平均眼压分别为14.68±5.08、13.99±2.95、14.25±2.50、14.36±2.83、14.33±2.66、14.94±1.95mmHg,术后各时间点眼压均较术前明显降低(P<0.05),术后各时间点眼压均无明显差异(P>0.05)。随访期间,纳入患者视力基本保持稳定,均无眼内炎、恶性青光眼发生。末次随访时,手术完全成功率为90%,部分成功率为8%,失败率为2%。结论:小梁切除术治疗色素性青光眼可以解除反向瞳孔阻滞,有效控制眼压、稳定视力,是安全有效的治疗方法。     

The Hermansky-Pudlak syndrome: Variable reaction to 1-desamino-8D-arginine vasopressin for correction of the bleeding time

The effect of the synthetic vasopressin derivative l-desamino-8D-arginine vasopressin (DDAVP = Minrin) on bleeding time was studied in nine patients with Hermansky-Pudlak syndrome; four of them were Dutch, five were Belgian. Shortening of bleeding time was observed in four of the patients with this type of storage pool disease; in one patient the response was equivocal, in two patients the response was not dramatic and in two there was no response at all. DDAVP may be useful in managing the bleeding disorder in some patients with Hermansky-Pudlak syndrome. Therefore, every patient with this syndrome should be tested with DDAVP as a preventive measure.     

Intravitreal Bevacizumab (Avastin) Treatment of Neovascular Glaucoma in Ocular Ischemic Syndrome

We report a case of ocular ischemic syndrome accompanied by neovascular glaucoma that was successfully treated with Bevacizumab. A 70-year-old male patient diagnosed with neovascular glaucoma of the left eye 3-4 years prior complained of continuous left eye pain and declining visual acuity despite receiving the latest treatment methods. At the time of admission the patient had no light perception in the left eye and his intraocular pressure was 30 mmHg. Anterior segment and fundus examinations revealed neovascularization of the iris and stenosis of the retinal vessel. Hypofluorescence of the choroid and retinal vessels was observed on fluorescence fundus angiography. Left internal carotid artery stenosis was observed on a brain MRI. Despite being treated with eye solution and oral medication, intraocular pressure was not controlled. After 7 days, we performed an intravitreal Bevacizumab 1.25 mg/0.05mL injection. One day after the intravitreal Bevacizumab injection, the neovascularization had nearly regressed and intraocular pressure was 30 mmHg. Intravitreal Bevacizumab injection produced regression of neovascularization and proved effective for treatment of neovascular glaucoma in this case of ocular ischemic syndrome.     

Comparison of Ocular Findings in Patients with H1N1 Influenza Infection versus Patients Receiving Influenza Vaccine during a Pandemic

Aim: To evaluate ocular findings during the pandemic influenza A (H1N1) and after vaccination for the same strain. Patients and Methods: This study was conducted on 89 patients with H1N1 influenza infection (group 1) and 28 subjects who received vaccination for H1N1 (group 2). All patients were subjected to history taking, ophthalmological examination, fundus examination, conjunctival impression cytology and conjunctival swabs. Results: The patients' age ranged between 5 and 60 years (19.25 ± 11.70 years). Group 1 included 43 (48.1%) males and 46 (51.9%) females, while group 2 included 13 (46.43%) males and 15 (53.57%) females. The most common ocular finding of patients in group 1 was bilateral acute conjunctivitis in 58 cases (65.17%), while in group 2, we found 3 (10.71%) cases of mild conjunctivitis, and 2 (7.14%) cases of moderate conjunctivitis. Retinopathy, uveal affection, and optic neuritis were not statistically different between the 2 groups. Impression cytology of the conjunctiva for group 1 showed squamous metaplasia grade 3 with enlargement of epithelial cells, and fragmentation of the nucleus which is similar to virus-infected structural changes. Conclusion: Pandemic influenza H1N1 was able to induce different ocular manifestations including acute conjunctivitis, retinopathy, uveal effusion syndrome and optic neuritis.