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   2016| July  | Volume 64 | Issue 7  
    Online since September 9, 2016

 
 
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ORIGINAL ARTICLES
Coats' disease of adult-onset in 48 eyes
Ekta Rishi, Pukhraj Rishi, Bindu Appukuttan, Mahesh Uparkar, Tarun Sharma, Lingam Gopal
July 2016, 64(7):518-523
DOI:10.4103/0301-4738.190141  PMID:27609165
Background: Coats' disease diagnosed in adulthood is an idiopathic, retinal exudative vascular disease without an inciting factor and has retinal features different from the childhood disease. Aim: To describe clinical features, treatment, and outcomes of eyes with Coats' disease first diagnosed in patients 35 years or older. Materials and Methods: Retrospective chart review of patients first diagnosed with Coats' disease at the age of 35 years or more at a tertiary eye care center between January 1995 and 2012. Eyes with retinal exudation or Coats'-like response from secondary causes were excluded. Results: Forty-five of 646 patients (7%) diagnosed with Coats' disease had adult-onset disease. Mean age at presentation was 47 years. Systemic hypertension was the most common (22%) systemic association and decreased vision the predominant presenting feature (83%). Localized (<6 clock h) presentation (74%) was unique to adults as against diffuse involvement (69%) in children (P < 0.001). Eyes were treated with laser photocoagulation 29 (60%), cryotherapy (4%), or both (2%) with surgical intervention in three (6%) eyes. Following treatment eight (35%) eyes improved, 11 (48%) eyes were stable while four (12%) eyes worsened due to complications. Conclusion: Adult-onset Coats' disease has less extensive involvement, more benign natural course, and a more favorable treatment outcome as against the childhood-onset disease. The bilateral presentation emphasizes the need for regular follow-up to detect possible future involvement of the fellow eye.
  5,386 564 23
BRIEF COMMUNICATIONS
Bilateral extraocular muscles enlargement from Kimura's disease of the orbit
Allan Christian Pieroni Gonçalves, Rodrigo B Moritz, Vera L Aldred, Mário Luiz Ribeiro Monteiro
July 2016, 64(7):538-540
DOI:10.4103/0301-4738.118424  PMID:24088630
Kimura's disease (KD) is a rare chronic inflammatory disease of unclear etiology, characterized by subcutaneous nodules, mainly in the head and neck region, frequently associated with regional lymphadenopathy. Orbital involvement is infrequent and when it occurs, usually affects the eyelid or the lacrimal gland. We report a case of a 44-year-old man that presented with bilateral slowly progressive proptosis that was initially misdiagnosed as Graves' Ophthalmopathy. 15 months of worsening proptosis and the development of facial and temporal swelling led to further investigation. Computed tomography and magnetic resonance imaging showed enlargement of all recti muscles and diffuse orbital infiltration. An orbital biopsy was performed and was consistent with the diagnosis of KD. Long term oral corticosteroid showed marked improvement of proptosis and facial swelling. This case serves to emphasize that KD should be included in the differential diagnosis of inflammatory diseases of the orbit, even when characterized by predominant involvement of the extraocular muscles.
  4,014 237 7
REVIEW ARTICLE
Adult onset retinoblastoma
Sabyasachi Sengupta, Utsab Pan, Vikas Khetan
July 2016, 64(7):485-491
DOI:10.4103/0301-4738.190099  PMID:27609158
Retinoblastoma (RB) is the most common primary malignant intraocular tumor of childhood presenting usually before 5 years of age. RB in adults older than 20 years is extremely rare. A literature search using PubMed/PubMed Central, Scopus, Google Scholar, EMBASE, and Cochrane databases revealed only 45 cases till date. Over the past decade, there has been a significant increase in the number of such reports, indicating heightened level of suspicion among ophthalmologists. Compared to its pediatric counterpart, adult onset RB poses unique challenges in diagnosis and treatment. This article summarizes available literature on adult onset RB and its clinical and pathologic profile, genetics, association with retinocytoma, diagnostics, treatment, and outcomes.
  3,358 535 15
LETTERS TO THE EDITOR
Tacrolimus-induced cerebral blindness in a liver transplant patient
Madhura A Tamhankar, Sebastian P Lesniak, Sudha Nallasamy, John H Woo
July 2016, 64(7):541-541
DOI:10.4103/0301-4738.111125  PMID:23619482
  3,167 237 -
ORIGINAL ARTICLES
Delayed onset of congenital hereditary endothelial dystrophy due to compound heterozygous SLC4A11 mutations
Babu Lal Kumawat, Ranjan Gupta, Arundhati Sharma, Seema Sen, Shikha Gupta, Radhika Tandon
July 2016, 64(7):492-495
DOI:10.4103/0301-4738.190100  PMID:27609159
Background: Congenital hereditary endothelial dystrophy (CHED) is an autosomal recessive disorder characterized by bilateral, symmetrical, noninflammatory corneal clouding (edema) present at birth or shortly thereafter. This study reports on an unusual delayed presentation of CHED with compound heterozygous SLC4A11 mutations. Materials and Methods: A 45-year-old female, presenting with bilateral decreased vision since childhood that deteriorated in the last 5 years, was evaluated to rule out trauma, viral illness, chemical injury, glaucoma, and corneal endothelial dystrophies. Tear sample was sent for herpes simplex viral (HSV) antigen testing. Genomic DNA from peripheral blood was screened for mutations in all exons of SLC4A11 by direct sequencing. Full-thickness penetrating keratoplasty was done and corneal button was sent for histopathological examination. Results: Slit-lamp findings revealed bilateral diffuse corneal edema and left eye spheroidal degeneration with scarring. Increased corneal thickness (762 μm and 854 μm in the right and left eyes, respectively), normal intraocular pressure (12 mmHg and 16 mmHg in the right and left eyes, respectively), inconclusive confocal scan, and specular microscopy, near normal tear film parameters, were the other clinical features. HSV-polymerase chain reaction was negative. Histopathological examination revealed markedly thickened Descemet's membrane with subepithelial spheroidal degeneration. SLC4A11 screening showed a novel variant p.Ser415Asn, reported mutation p.Cys386Arg and two polymorphisms, all in the heterozygous state and not identified in 100 controls. Conclusions: The study shows, for the first time, compound heterozygous SLC4A11 mutations impair protein function leading to delayed onset of the disease.
  2,932 339 6
Nasolacrimal duct obstruction: Does it really increase the risk of amblyopia in children?
V Akila Ramkumar, Sumita Agarkar, Bipasha Mukherjee
July 2016, 64(7):496-499
DOI:10.4103/0301-4738.190101  PMID:27609160
Purpose: To report the prevalence of amblyopia risk factors in children with congenital nasolacrimal duct obstruction. Methods: A retrospective review of records of children with the diagnosis of congenital nasolacrimal duct obstruction (NLDO), who underwent probing from January 2009 to October 2011, was done. All of them underwent a complete ophthalmic evaluation including cycloplegic refraction and strabismus evaluation before probing. Results: A total of 142 children were included in this study. The mean age at presentation was 22.38 months (sample standard deviation (SSD) - 15.88). Amblyopia risk factors were defined according to two sets of guidelines: The American Association for Pediatric Ophthalmology and Strabismus (AAPOS) referral criteria guidelines and the new AAPOS Vision Screening Committee guidelines. Twenty-eight (20%) children were found to have some form of amblyopia risk factor based on the referral criteria prescribed by AAPOS. However, on applying modified guidelines described by Donahue et al., to analyze the same cohort, 21 children were found to have amblyogenic risk factors. Of these 28 children, 13 had significant astigmatism (>1.50 D), 8 children had hypermetropia (>3.50 D), and six children had anisometropia (>1.50 D). One child had significant cataract (media opacity >1 mm). None of the children in this series had either myopia or strabismus. Conclusion: Prevalence of amblyopia risk factor was found to be 20% in our study based on the older guidelines; however, it reduces to 14.78% by applying the modified guidelines. Despite this reduction, importance of a comprehensive ophthalmic examination including cycloplegic refraction in all children presenting with NLDO cannot be overstated. A close follow-up of these children is also essential to prevent the development of amblyopia.
  2,843 396 6
Clinical outcome and regression patterns of retinoblastoma treated with systemic chemoreduction and focal therapy: A prospective study
Bhavna Chawla, Amit Jain, Rachna Seth, Rajvardhan Azad, VK Mohan, Neelam Pushker, Supriyo Ghose
July 2016, 64(7):524-529
DOI:10.4103/0301-4738.190143  PMID:27609166
Purpose: To prospectively study the clinical outcome and regression patterns of early retinoblastoma (Groups A and B) after systemic chemotherapy and focal consolidation in Indian children. Materials and Methods: Group A eyes were treated with focal therapy (transpupillary thermotherapy/cryotherapy) and Group B with systemic chemoreduction and focal therapy. Outcome measures were efficacy and safety of treatment, risk factors for treatment failure, regression patterns, and factors predictive of regression patterns. Results: Of 119 eyes (216 tumors), 14 (11.8%) were Group A and 105 (88.2%) were Group B eyes. The mean follow-up was 22.6 months. Tumor control was achieved in 111/119 eyes (93.3% overall, 100% Group A, 92.4% Group B). Eight Group B eyes (6.7%) had treatment failure. No serious systemic side-effects were noted. Risk factors for failure included larger tumors (P = 0.001) and proximity to posterior pole (P = 0.014). Regression patterns were Type 4 (50.2%), Type 3 (31.7%), Type 1 (11.1%), and Type 2 (7%). Factors predictive of Type 4 regression were smaller tumors, anterior location, younger age; Type 3 regression was associated with larger tumors, macular location, and older age. Conclusions: Systemic chemoreduction and focal therapy provided effective tumor control in Indian children. Factors predictive of regression patterns included age, tumor size and its location, and the modality of treatment.
  2,738 372 12
Ultra-wide field angiography in the management of Eales disease
Vinod Kumar, Parijat Chandra, Atul Kumar
July 2016, 64(7):504-507
DOI:10.4103/0301-4738.190138  PMID:27609162
Aims: This study aims to evaluate the use of ultra-wide field (UWF) angiography in patients with Eales disease (ED). Settings and Design: Prospective observational case series in tertiary eye care center. Subjects and Methods: This study involved 17 patients diagnosed with ED, who underwent UWF fluorescein angiography. The angiograms were analyzed to look for additional information as compared to Early Treatment Diabetic Retinopathy Study seven standard field. The impact of this information in the management of patients was analyzed. Results: 24 eyes of 17 patients with mean age of 26.3 years were diagnosed with ED and underwent UWF angiography. UWF fluorescein angiography was helpful in the documentation of peripheral retinal changes (in 67% of eyes), exact localization of capillary nonperfusion (CNP) (in 54% of eyes), and in determination of vascular involvement (in 21% of eyes). In 33% of eyes, immediate treatment plan changed because of changes picked up on UWF angiography. Conclusions: UWF angiography helped in the better documentation, exact quantification, and location of CNP areas and better determination of disease activity. UWF imaging may play an important part in the management of patients with ED.
  2,765 300 6
BRIEF COMMUNICATIONS
Co-existing ligneous conjunctivitis and IgG4-related disease
Wei-Yu Chiang, Ting-Ting Liu, Wan-Ting Huang, Ming-Tse Kuo
July 2016, 64(7):532-534
DOI:10.4103/0301-4738.190154  PMID:27609168
Herein, we elucidate that ligneous conjunctivitis (LC) was proved as an IgG4-related disease (IgG4-RD) by a series of pathologic studies from primary and recurrent episodes of an LC patient. LC was diagnosed based on clinical presentation and pathological appearance; furthermore, combined with serological examination and immunohistochemical study, the case also conformed to the diagnosis of IgG4-RD. The IgG4-RD, broadly discussed in recent times, is an idiopathic disease entity with tissue fibrosis possibly involving multiple organs. To the best of our knowledge, IgG4-RD has never been reported with LC. By reporting the clinical course and literature review, we should pay attention to the association between these two diseases.
  2,833 215 7
ORIGINAL ARTICLES
Phenotypic characterization of X-linked retinoschisis: Clinical, electroretinography, and optical coherence tomography variables
Srividya Neriyanuri, Sudha Dhandayuthapani, Jayamuruga Pandian Arunachalam, Rajiv Raman
July 2016, 64(7):513-517
DOI:10.4103/0301-4738.190140  PMID:27609164
Aims: To study the phenotypic characteristics of X-linked retinoschisis (XLRS) and report the clinical, electroretinogram (ERG), and optical coherence tomography (OCT) variables in Indian eyes. Design: A retrospective study. Materials and Methods: Medical records of 21 patients with retinoschisis who were genetically confirmed to have RS1 mutation were reviewed. The phenotype characterization included the age of onset, best-corrected visual acuity, refractive error, fundus findings, OCT, and ERG. Statistical Analysis Used: Data from both the eyes were used for analysis. A P < 0.05 was set as statistical significance. Data were not normally distributed (P < 0.05, Shapiro wilk); hence, nonparametric tests were used for statistical analysis. Results: All were males whose mean age of presentation was 9 years. Visual acuity was moderately impaired (median 0.6 logMAR, interquartile range: 0.47, 1) in these eyes with a hyperopic refractive error of median +1.75 Ds (interquartile range: +0.50 Ds, +4.25 Ds). About 54.7% of the eyes had both foveal and peripheral schisis, isolated foveal schisis was seen in 28.5% of the eyes, and schisis with retinal detachment was seen in 16.6% of the eyes. The inner nuclear layer was found to be commonly involved in the schisis, followed by outer nuclear and plexiform layers as evident on OCT. On ERG, a- and b-wave amplitudes were significantly reduced in eyes with foveal and peripheral schisis when compared to the eyes with only foveal schisis (P < 0.05). Conclusions: XLRS has phenotypic heterogeneity as evident on OCT, ERG, and clinical findings.
  2,297 271 7
BRIEF COMMUNICATIONS
Two cases of myotonic dystrophy manifesting various ophthalmic findings with genetic evaluation
Min Ji Kang, Hye Bin Yim, Hyung Bin Hwang
July 2016, 64(7):535-537
DOI:10.4103/0301-4738.190157  PMID:27609169
We report two cases of myotonic dystrophy in one family; both diagnosed from genetic analysis following ophthalmic indications, but before the manifestation of systemic symptoms. A 39-year-old female visited our clinic for routine examination. Mild ptosis, sluggish pupillary response, and bilateral snowflake cataracts were found. Fundus examination revealed an increased cup-to-disc ratio (CDR) in both eyes and a defect in the retinal nerve fiber layer in the right eye. Intraocular pressure was low, but within the normal range in both eyes. Because cataracts are characteristic of myotonic dystrophy, we suggested that her 14-year-old daughter, who did not have any systemic complaints, undergo ophthalmic examination. She also had mild ptosis and snowflake cataracts. Both patients underwent genetic evaluation and were diagnosed with myotonic dystrophy caused by unstable expansion of cytosine-thymine-guanine trinucleotide repeats in the dystrophia myotonica-protein kinase gene. Ophthalmologists can diagnose myotonic dystrophy based on clinical and genetic findings, before the manifestation of systemic abnormalities.
  2,241 223 2
ORIGINAL ARTICLES
The investigation on the role of mitochondrial fusion protein 1 in the development of myopia
Yun-Lin Cai, Yun-Chun Zou, Jia-Hong Lei, Guan-Peng Zeng, Ying Wang
July 2016, 64(7):500-503
DOI:10.4103/0301-4738.190137  PMID:27609161
Purpose: The aim of this study is to preliminarily investigate the expression of mitochondrial fusion protein 1 (MFN1) in a lens-induced animal myopia (LIM) model and to explore the relationship between MFN1 and the visual development. Materials and Methods: MFN1 gene expression in guinea pigs was examined during the development of minus LIM, 15 tri-colored guinea pigs were obtained, and one eye of each pig was randomly selected and treated with −7.00D lenses. Ocular refraction and axial length were collected before intervention and 1, 2, and 3 weeks after intervention. After the refraction and axial length measurements at 1, 2, and 3 weeks of lens intervention, five guinea pigs were randomly selected. MFN1 expression in the retina of both eyes was tested by immunohistochemistry technique. Results: MFN1-positive cells could be observed in the retina of both eyes. The positive cells in the LIM eyes were staining deeper, and much more positive cells could be observed. Furthermore, MFN1-positive expression could be seen mainly in ganglion cells after 1 week of minus lens intervention, and with time extension, more and more positive cells appeared in the rod-cone cell and bipolar cell layer, and this phenomenon could not be found in the normal control eyes. Conclusion: This study suggested that MFN1 might be correlated to the development of myopia.
  2,037 218 2
EDITORIAL
Genes - they never go out of fashion!
Sundaram Natarajan
July 2016, 64(7):483-483
DOI:10.4103/0301-4738.190097  PMID:27609156
  1,828 282 -
LETTERS TO THE EDITOR
Approach to tubercular disc edema
Gauri Bhushan, Swati Gupta, Shantanu Gupta, Neeraj Nischal
July 2016, 64(7):548-549
DOI:10.4103/0301-4738.190176  PMID:27609176
  1,840 207 1
GUEST EDITORIAL
Establishment of the Indian Chapter for Asian Eye Genetics Consortium
Takeshi Iwata
July 2016, 64(7):484-484
DOI:10.4103/0301-4738.190098  PMID:27609157
  1,812 231 1
ORIGINAL ARTICLES
Further evidence for P59L mutation in GJA3 associated with autosomal dominant congenital cataract
Li Wang, Yuhong Chen, Xueli Chen, Xinghuai Sun
July 2016, 64(7):508-512
DOI:10.4103/0301-4738.190139  PMID:27609163
Context: Congenital cataracts are one of the common eye disorders leading to visual impairment or blindness in children worldwide. We found a Chinese family with autosomal dominant pulverulent cataract. Aims: To identify the pathogenic gene mutation in a Chinese family with autosomal dominant inherited pulverulent cataract. Subjects and Methods: After obtained informed consent, detailed ophthalmic examinations were carried out; genomic DNAs were obtained from seven family members in a three-generation Chinese family with three affected. All exons of candidate genes were amplified by polymerase chain reaction and were sequenced performed by bidirectional sequencing. Results: By sequencing the encoding regions of the candidate genes, a missense mutation (c. 176C>T) was detected in gap junction protein alpha 3 genes (GJA3), which resulted in the substitution of highly conserved proline by leucine at codon 59 (p.P59L). The mutation co-segregated with all patients and was absent in 100 normal Chinese controls. Conclusions: The study identified a missense mutation (c. 176C>T) in GJA3 gene associated with autosomal dominant congenital pulverulent cataract in a Chinese family. It gave further evidence of phenotype heterogeneity for P59L mutation in GJA3 associated with congenital cataract.
  1,864 161 2
BOOK REVIEW
Basics of Vitrectomy
Sundaram Natarajan
July 2016, 64(7):550-550
DOI:10.4103/0301-4738.190177  
  1,677 326 1
LETTERS TO THE EDITOR
Bilateral congenital infantile hemangioma of upper eyelids
Amit Mohan
July 2016, 64(7):542-543
DOI:10.4103/0301-4738.190168  PMID:27609170
  1,709 183 -
PHOTO ESSAY
Intraoperative optical coherence tomography guided removal of premacular hemorrhage in Valsalva retinopathy
Vinod Kumar, Parijat Chandra, Atul Kumar
July 2016, 64(7):530-531
DOI:10.4103/0301-4738.190151  PMID:27609167
  1,557 212 1
LETTERS TO THE EDITOR
Comment on: Systemic approach to managing vernal conjunctivitis in clinical practice and severity grading system and treatment algorithm
Neeraj Ashok Israni, Swetha Narayanam, Prachi Shah, Suresh Ramchandani
July 2016, 64(7):544-545
DOI:10.4103/0301-4738.190171  PMID:27609172
  1,482 209 1
Comment on: A rare case of eyelid sarcoidosis presenting as an orbital mass
Charudutt Kalamkar, Nishant V Radke, Amrita Mukherjee, Snehal Nishant Radke
July 2016, 64(7):543-544
DOI:10.4103/0301-4738.190170  PMID:27609171
  1,515 163 -
Comment on: An unusual presentation of nonarteritic ischemic optic neuropathy with subretinal fluid treated with intravitreal bevacizumab
Charudutt Kalamkar, Nishant V Radke, Amrita Mukherjee, Snehal N Radke
July 2016, 64(7):546-547
DOI:10.4103/0301-4738.190173  PMID:27609174
  1,315 148 1
Authors' reply
Nikhil S Gokhale
July 2016, 64(7):545-546
DOI:10.4103/0301-4738.190172  PMID:27609173
  1,258 140 -
Authors' reply
Vivek Pravin Dave, Rajeev R Pappuru
July 2016, 64(7):547-548
DOI:10.4103/0301-4738.190174  PMID:27609175
  1,210 133 -