Case Reports in Ophthalmological Medicine The latest articles from Hindawi Publishing Corporation © 2015 , Hindawi Publishing Corporation . All rights reserved. Presentation of Complex Homozygous Allele in ABCA4 Gene in a Patient with Retinitis Pigmentosa Thu, 02 Jul 2015 09:36:12 +0000 Retinitis pigmentosa is a degenerative retinal disease characterized by progressive photoreceptor damage, which causes loss of peripheral and night vision and the development of tunnel vision and may result in loss of central vision. This study describes a patient with retinitis pigmentosa caused by a mutation in the ABCA4 gene with complex allele c.1622T>C, p.L541P; c.3113C>T, p.A1038V in homozygous state. Māreta Audere, Katrīna Rutka, Svetlana Šepetiene, and Baiba Lāce Copyright © 2015 Māreta Audere et al. All rights reserved. Phenotypic Spectrum of Granular Corneal Dystrophy Type II in Two Italian Families Presenting an Unusual Granular Corneal Dystrophy Type I Clinical Appearance Mon, 29 Jun 2015 12:22:52 +0000 Clinical, instrumental, and genetic findings are reported in Italian families with Type II Granular Corneal Dystrophies (GCD2) presenting an initial unusual presentation of a Granular Corneal Dystrophy Type I (GCD1) phenotypic spectrum in female descendants. Slit-lamp examinations showed the typical phenotypic features of GCD2 in both mothers and a phenotypic appearance of GCD1 in both daughters. Despite the different phenotypic onset, the genetic diagnostic testing revealed the presence of a mutation in the TGFB-I gene, typical of GCD2 in both cases, excluding GCD1. Patients who were clinically suspected of corneal dystrophy need a genetic confirmatory testing for certain diagnosis. Genetic test may help to find the specific mutation distinguishing between different phenotypic spectra with relative diagnostic and prognostic implications. The study demonstrates that the phenotypic spectrum of genetically confirmed granular corneal dystrophies in patients may change over time. Since the R124H mutation has also been described in clinically asymptomatic individuals prior to LASIK, who then develop dramatic deposition, suggesting that this particular mutation and phenotype may be sensitive to, precipitated, or modified by central cornea trauma, a careful familial anamnesis excluding cornel dystrophies and specific preoperative genetic test are recommended prior to LASIK. Cosimo Mazzotta, Claudio Traversi, Stefano Baiocchi, Stefano Barabino, and Alessandro Mularoni Copyright © 2015 Cosimo Mazzotta et al. All rights reserved. Brittle Cornea Syndrome: Case Report with Novel Mutation in the PRDM5 Gene and Review of the Literature Mon, 29 Jun 2015 11:39:48 +0000 A 3-year-old boy presented with acute corneal hydrops on the left eye and spontaneous corneal rupture on the right eye. A diagnosis of brittle cornea syndrome was confirmed by molecular analysis. A novel mutation, the homozygous variant c.17T>G, p.V6G, was found in the gene for PR-domain-containing protein 5 (PRDM5) in exon 1. Brittle cornea syndrome is a rare connective tissue disease with typical ocular, auditory, musculoskeletal, and cutaneous disorders. Almost all patients suffer from declined vision due to corneal scarring, thinning, and rupture. The most common ophthalmologic findings include keratoconus, progressive central corneal thinning, high myopia, irregular astigmatism, retinal detachment, and high risk for spontaneous corneal or scleral rupture. In addition to describing the case with a novel mutation here we review the current literature on brittle cornea syndrome pathogenesis, clinical findings, and therapy. Georgia Avgitidou, Sebastian Siebelmann, Bjoern Bachmann, Juergen Kohlhase, Ludwig M. Heindl, and Claus Cursiefen Copyright © 2015 Georgia Avgitidou et al. All rights reserved. Posterior Chamber Hemorrhage during Fluorescein Angiography Sun, 28 Jun 2015 07:07:21 +0000 This paper provides the first reported case of acute posterior chamber hemorrhage during fluorescein angiography (FA). This is a case review with serial color photographs of the anterior segment. A 76-year-old male was referred for angiographic control of age-related macular degeneration. He was pseudophakic OU, BCVA 20/40 OU. He had mild hypertension, but not diabetes. He had had two previous angiograms without adverse effects. Difficulty was experienced in obtaining the images owing to a progressive reduction in the transparency of the media. A dense hemorrhage in the posterior chamber of the right eye was found, involving the visual axis. Thorough biomicroscopy, gonioscopy, and ultrasonic biomicroscopy showed that part of one of the haptics of the right intraocular lens (IOL) was touching and tearing the posterior face of the iris, without any visible synechiae, iris, or angle neovascularization. Anterior segment FA and posterior ultrasonography were normal. No similar case has been described in the literature involving dense progressive bleeding located in the capsular bag and posterior chamber, without any detectable triggering ocular event other than mydriasis and fluorescein injection. Contact of the iris or sulcus with part of the intraocular lens, aggravated by the intense use of mydriatics during the FA procedure, probably caused bleeding to happen. Manuel A. P. Vilela Copyright © 2015 Manuel A. P. Vilela. All rights reserved. Bilateral Iris Atrophy after the Femtosecond Assisted Laser In Situ Keratomileusis Surgery Sun, 14 Jun 2015 12:57:35 +0000 Purpose. To report an unknown complication of laser in situ keratomileusis (LASIK) surgery. Case Presentation. A 28-year-old female presented with photophobia and glare to our eye service. She stated in her medical history that she had undergone femtosecond assisted LASIK surgery in both eyes 15 months ago and her symptoms started just after this surgery. On admission, her best-corrected visual acuity was 10/10 in both eyes. She had mydriatic pupils with no direct light reflex. Examination of the anterior segment revealed bilateral iris atrophy projecting within the LASIK ablation zone and a transillumination defect was remarkable on the slit lamp examination. Conclusion. We hypothesized that this condition may have been caused by the abnormally increased IOP that resulted in ischemia in the iris vascular plexus during the suction process of surgery. Kenan Olcay, Akin Cakir, Sercan Koray Sagdic, Eyup Duzgun, and Yildiray Yildirim Copyright © 2015 Kenan Olcay et al. All rights reserved. Cataract Surgery with a Refractive Corneal Inlay in Place Thu, 11 Jun 2015 09:01:36 +0000 Purpose. To present a case of cataract surgery performed in a patient with a refractive corneal inlay in place. Methods. A 48-year-old female patient presented to our institute with bilateral cataract. The patient had undergone refractive corneal inlay implantation three years ago in her right, nondominant eye for presbyopia correction. Biometry and intraocular lens (IOL) power calculation were performed without removing the inlay. Phacoemulsification and IOL insertion were carried out in both eyes in a usual manner. Results. On day one postoperatively, the patient achieved binocular uncorrected distance visual acuity 20/20 and uncorrected near visual acuity J1. The vision remained stable during the one-year follow-up period. Conclusion. Cataract surgery was performed in a standard manner in a patient with Presbia Microlens corneal inlay in place. Visual outcomes for both near and distance vision were satisfactory. N. R. Stojanovic, S. I. Panagopoulou, and I. G. Pallikaris Copyright © 2015 N. R. Stojanovic et al. All rights reserved. Increase in Central Retinal Edema after Subthreshold Diode Micropulse Laser Treatment of Chronic Central Serous Chorioretinopathy Tue, 09 Jun 2015 17:12:45 +0000 Purpose. Subthreshold diode micropulse laser (SDM) treatment is believed to be safe method of treating clinical entities involving retinal edema. We present a case of serous edematous reaction of the retina to SDM treatment. Methods. Case report. Results. A patient with chronic central serous chorioretinopathy (CSCR) was treated with SDM Yellow multispot laser. Procedure had been preceded by careful titration of the laser power, which after achieving of the threshold parameter was decreased by 50%. The follow-up visit two days after treatment revealed significant central retinal edema and subretinal fluid. Fundus autofluorescence image showed thermal reaction from the RPE in the form of small spots of hyperfluorescence corresponding to the laser multispot pattern used for treatment. Retinal edema resolved after topical bromfenac and single intravitreal bevacizumab injection. Slight pigmentary reaction from the RPE persisted. Conclusion. In the treatment of CSCR, there is a need to significantly reduce threshold SDM power parameters or simply use very low power without titration. Maciej Gawęcki Copyright © 2015 Maciej Gawęcki. All rights reserved. Submacular Parasite Masquerading as Posterior Pole Granuloma Tue, 09 Jun 2015 12:38:22 +0000 Parasites enter the eye through hematogenous spread. The interaction with host immune system may result in its destruction but not without collateral damage to the vital retinal structures. Currently, the accepted treatment for ocular parasitosis is surgical removal or direct laser photocoagulation. A 24-year-old Indian woman presented with abrupt painless loss of vision to 5/300. A large yellow-white lesion centered at macula was observed with associated retinal and subretinal hemorrhage and neurosensory retinal detachment. A parasite was seen protruding at the center of the lesion. Fluorescein angiography demonstrated disc leakage and vessel wall staining. Ultrasonography demonstrated a highly reflective subretinal lesion with aftershadowing. Serological test was positive for anti-cysticercus (IgM) antibody. Treatment with prednisolone and albendazole resulted in resolution of the lesion within 2 months with improvement of visual acuity to 20/400. A noncystic form of subretinal cysticercosis is likely with suggestive B-scan ultrasonography and serological investigations. Jatinder Singh and Rajbir Singh Copyright © 2015 Jatinder Singh and Rajbir Singh. All rights reserved. Bilateral Dome-Shaped Macula with Serous Macular Detachment in a Child Mon, 01 Jun 2015 11:17:25 +0000 Dome-shaped macula is a structural disorder and optical coherence tomography (OCT) helps us to confirm macular convexity. We describe the first case of bilateral dome-shaped macula in an 8-year-old boy with subretinal fluid. The patient was diagnosed using spectral-domain OCT and received indocyanine green angiography-guided half-fluence photodynamic therapy as treatment. Zafer Cebeci and Nur Kir Copyright © 2015 Zafer Cebeci and Nur Kir. All rights reserved. Epithelial Downgrowth after Intraocular Surgery Treated with Intracameral 5-Fluorouracil Thu, 28 May 2015 13:39:11 +0000 Purpose. To present the clinical and histopathologic correlation of two cases of epithelial downgrowth (EDG) after prior intraocular surgery. Methods. Observational case reports. Results. We present two cases of EDG occurring after intraocular surgery. In both cases, after two anterior chamber injections of 5-fluorouracil (5FU), the area of EDG initially regressed. In Case 1, a limited area of EDG eventually recurred, and penetrating keratoplasty with cryotherapy was curative. In Case 2, subsequent corneal edema required Descemet-stripping automated endothelial keratoplasty, and the patient remained clinically free of EDG without further treatment. Conclusion. Intracameral 5FU may have a role in the treatment of EDG after intraocular surgery, though its precise utilization and impact remain to be defined. Nina Ni, Marc A. Goldberg, Ralph C. Eagle Jr., Christopher J. Rapuano, and Julia A. Haller Copyright © 2015 Nina Ni et al. All rights reserved. Surgical Excision of Orbital Progressive Granular Cell Tumour Mon, 18 May 2015 13:59:23 +0000 Granular cell tumour (GCT) is mostly benign lesion first described by Abrikossoff and named after him. Most cases are reported in the head and neck area, where the tongue is the most common site. Here we review previous cases in the literature for GCT in the orbit and present a new case. A 49-year-old male presented with apparent exophthalmos. Examination of the patient revealed the presence of a mass in the bottom side of the orbit. A substantial progress was noted after two months from the initial examination using computed tomography (CT) scan. An orbital mass was extracted and histological analysis showed signs typical for GCT. Immunohistochemistry was positive for S-100; the biopsy showed no mitotic or necrotic areas. Proptosis was resolved after surgery and a six-year follow-up CT scan was performed. We conclude that rapid progress of the tumour does not necessarily suggest malignancy. Demetrio Germanò, Hossein Mostafa Elbadawy, Diego Ponzin, Daniele Ferro, and Leonardo Priore Copyright © 2015 Demetrio Germanò et al. All rights reserved. Unilateral Congenital Lacrimal Fistula with Renal Agenesis and Pelvic Kidney: A Case Report and Review of the Literature Mon, 18 May 2015 12:48:27 +0000 A 12-year-old boy presented to the clinic of ophthalmology because of watering and discharge from his left lower eyelid. The inspection examination revealed an orifice that was associated with congenital lacrimal fistula (CLF). He underwent a complete ophthalmologic and systemic evaluation to explore possible associated findings. Systemic evaluation revealed multiple renal anomalies: right renal agenesis and left ectopic pelvic kidney. This case is unique because this is the first reported case of CLF accompanied with ectopic pelvic kidney in the literature. A. Altun, S. A. Kurna, T. Sengor, G. Altun, A. Oflaz, and H. S. Sonmez Copyright © 2015 A. Altun et al. All rights reserved. Epidermoid Cyst of Orbit in a Newborn Wed, 13 May 2015 14:21:40 +0000 A 3-day-old male newborn presented with a severe proptosis of the left eye leading to exposure keratopathy. He underwent debulking of the cyst and biopsy of the tumour and received the pathological diagnosis of epidermoid cyst of orbit. Clinicopathological features of this rare disease are discussed. Handan Canan, Rana Altan-Yaycioglu, Nebil Bal, Birgin Törer, Bilin Çetinkaya-Çakmak, and Hande Gülcan Copyright © 2015 Handan Canan et al. All rights reserved. Corneal Collagen Cross-Linking in Pellucid Marginal Degeneration: 2 Patients, 4 Eyes Mon, 11 May 2015 13:44:11 +0000 Purpose. To report the long-term results of corneal collagen cross-linking (CXL) with riboflavin and ultraviolet-A irradiation in 4 eyes of 2 patients affected by pellucid marginal degeneration (PMD). Methods. This study involved the retrospective analysis of 4 eyes of 2 patients with PMD that underwent CXL treatment. Of the eyes, three had only CXL treatment and one had CXL treatment after an intrastromal corneal ring segment implantation. We have pre- and postoperatively evaluated uncorrected distance visual acuity (UDVA), best corrected distance visual acuity (BCDVA), corneal topography (Pentacam), specular microscopy, and pachymetry. Results. Patient 1 was a woman, aged 35, and Patient 2 was a man, aged 33. The right eye of Patient 1 showed an improvement in her BCDVA, from 16/40 to 18/20 in 15 months, and her left eye improved from 12/20 to 18/20 in 20 months. Patient 2’s right eye showed an improvement in his BCDVA, from 18/20 to 20/20 in 43 months, and his left eye improved from 16/20 to 18/20 in 22 months. No complications were recorded during or after the treatment. Conclusion. CXL is a safe tool for the management of PMD, and it can help to stop the progression of this disease. Serife Bayraktar, Zafer Cebeci, Merih Oray, and Nilufer Alparslan Copyright © 2015 Serife Bayraktar et al. All rights reserved. Cytomegalovirus Uveitis with Hypopyon Mimicking Bacterial Endophthalmitis Mon, 11 May 2015 13:18:03 +0000 We report an 83-year-old immune-competent female with unilateral endophthalmitis extraordinarily caused by cytomegalovirus (CMV). Since she was suspected of suffering possible bacterial endophthalmitis, she was referred to our hospital. At the first visit, hypopyon in the anterior chamber and the opacity of vitreous body were observed in the left eye. The best-corrected visual acuity (BCVA) of the left eye was counting fingers and the intraocular pressure (IOP) was 20 mmHg. Bacterial and fungus culture of the aqueous humor revealed no infection. However, the density of corneal endothelial cell was less than the measurable range and CMV was detected by PCR of the aqueous humor. She was immune-competent and the data indicated neither systemic infections nor diseases. Systemic valganciclovir and corticosteroid were administered. After that, hypopyon in the anterior chamber and the opacity of vitreous body of the left eye were improved, and the BCVA of the left eye was 20/200 one year after the first visit. However, the inflammation of the anterior chamber recurred accompanied by elevated IOP after the discontinuance of administering valganciclovir. CMV-induced uveitis accompanied with hypopyon is quite rare. Therefore, it can be easily misdiagnosed as bacterial endophthalmitis. Atsushi Yoshida, Hiroto Obata, and Hidetoshi Kawashima Copyright © 2015 Atsushi Yoshida et al. All rights reserved. Infected Baerveldt Glaucoma Drainage Device by Aspergillus niger Thu, 07 May 2015 15:58:50 +0000 Fungal endophthalmitis is rare but may complicate glaucoma drainage device surgery. Management is challenging as the symptoms and signs may be subtle at initial presentation and the visual prognosis is usually poor due to its resistant nature to treatment. At present there is lesser experience with intravitreal injection of voriconazole as compared to Amphotericin B. We present a case of successfully treated Aspergillus endophthalmitis following Baerveldt glaucoma drainage device implantation with intravitreal and topical voriconazole. Nurul-Laila Salim, Yaakub Azhany, Zaidah Abdul Rahman, Roziawati Yusof, and Ahmad Tajudin Liza-Sharmini Copyright © 2015 Nurul-Laila Salim et al. All rights reserved. Ultrasound Biomicroscopy and Scheimpflug Imaging in Anterior Megalophthalmos: Changes Seen after Cataract Surgery Thu, 07 May 2015 14:07:49 +0000 Purpose. With this report we describe ultrasound biomicroscopic (UBM) findings in a patient with anterior megalophthalmos before and after undergoing phacoemulsification with posterior chamber intraocular lens implantation. Methods. Phacoemulsification was carried out for nuclear sclerosis in both eyes of a patient diagnosed with anterior megalophthalmos. The patient was subjected to detailed ophthalmic examination including ultrasound biomicroscopy and Scheimpflug imaging prior to and after surgery. Preoperative ultrasound biomicroscopy revealed a deep anterior chamber with posterior bowing of the midperipheral iris in both eyes. The ciliary processes were inserted on the posterior surface of the iris. UBM was repeated postoperatively as well. Results. Phacoemulsification and posterior chamber intraocular lens implantation (IOL) were carried out successfully in both eyes. The IOLs were well centered and captured within the anterior capsulorhexis. The anterior chambers were hyperdeep, 6.24 mm (OD) and 6.08 mm (OS), respectively. The posterior bowing of the midperipheral iris was absent, with the iris having a more flat profile. Conclusion. UBM findings in anterior megalophthalmos seemed to partially resolve after cataract surgery. The anterior chamber deepens appreciably as well. Nishant Nawani, Arun K. Jain, and Ramandeep Singh Copyright © 2015 Nishant Nawani et al. All rights reserved. Complete Disappearance of Choroidal Metastasis from Lung Adenocarcinoma Treated with Bevacizumab and Chemotherapy Thu, 07 May 2015 07:08:17 +0000 Choroidal metastasis from lung cancer is uncommon. We report a case of choroidal metastasis as an inaugural manifestation of lung adenocarcinoma, successfully treated by docetaxel, cisplatinum, and intravenous bevacizumab as an antiangiogenesis therapy. A complete remission was obtained after 4 cycles and maintained after six cycles. This case report demonstrates the importance of the systemic bevacizumab and chemotherapy in the treatment of choroidal metastasis from adenocarcinoma of the lung. Hampig Raphael Kourie, Joelle Antoun, Alexandre Schakal, Elie Nasr, Marwan Sahyoun, and Joseph Kattan Copyright © 2015 Hampig Raphael Kourie et al. All rights reserved. Bilateral Sturge-Weber and Phakomatosis Pigmentovascularis with Glaucoma, an Overlap Syndrome Wed, 06 May 2015 09:11:52 +0000 Aim. To report a case of bilateral Sturge-Weber and Phakomatosis pigmentovascularis with secondary glaucoma in a child. Method. Case report. Results. A 4-year-old male child was referred to us for control of intraocular pressure (IOP). Sleeping IOP was 36 mm Hg in right eye and 28 mm Hg in the left eye. The sclera of both the eyes showed bluish black pigmentation—melanosis bulbi. Fundus examination of both eyes showed diffuse choroidal hemangiomas with glaucomatous cupping. Nevus flammeus was present on both sides of face along all the 3 divisions of trigeminal nerve with overlying hypertrophy of skin and on left forearm. Nevus fuscocaeruleus was present on upper trunk. All skin lesions were present since birth and were stationary in nature. CT scan of head revealed left-sided cerebral atrophy. Intraocular pressure was controlled after treatment with topical antiglaucoma medications. Pulsed Dye Laser has been advised by dermatologist for skin lesions. Patient has been advised for regular follow-up. Conclusion. The two overlapping dermatological disorders and their association with glaucoma are a rare entity. Management should be targeted both for dermatological and eye conditions. Bharat Patil, Gautam Sinha, Bhagabat Nayak, Reetika Sharma, Sadhana Kumari, and Tanuj Dada Copyright © 2015 Bharat Patil et al. All rights reserved. A Case of Goldenhar Syndrome Associated with a New Retinal Presentation: Exudative Vitelliform Maculopathy Sun, 03 May 2015 09:17:06 +0000 Goldenhar syndrome is a rare clinical disturbance with a wide range of clinical manifestations. We report on a 6-year-old male with peculiar retinal presentation of Goldenhar syndrome. The patient was referred to Ophthalmology for central scotoma in the left eye, where visual acuity was 20/100. Fundus examination was unremarkable, except for yellowish material in the central macula. SD-OCT revealed interruption of the external limiting membrane and inner and outer segment junctions, with disorganized material in the vitelliform space and subretinal fluid. Six months later, fundus and SD-OCT examinations were unchanged without treatment, but visual acuity in the left eye had improved to 20/50. Five years later, he had similar clinical manifestations in the right eye. He was started on systemic steroids. After 15 days, his visual acuity improved to 20/20 and subretinal fluid and yellowish material in the vitelliform space disappeared. Goldenhar syndrome has variable presentation, including vitelliform maculopathy. Claudia Bruè, Cesare Mariotti, Silvia Celani, Ilaria Rossiello, and Alfonso Giovannini Copyright © 2015 Claudia Bruè et al. All rights reserved. Late Stage of Corneal Decompensation Caused by Progressive Keratoconus: Can We Treat It and Save the Cornea? Thu, 30 Apr 2015 12:43:41 +0000 Aim. To report a case of 40-year-old male with progressive bilateral keratoconus who had undergone transepithelial phototherapeutic keratectomy (TE-PTK) and corneal collagen cross-linking (CXL) using hypoosmolar riboflavin solution in a same day procedure. Methods. Eye examination showed that UCDVA on both eyes was 0,01 according to Snellen charts, and slit lamp biomicroscopy showed paracentral diffuse intrastromal corneal haze. Anterior OCT marked stromal hyperreflective zones and localized paracentral thinning of the cornea. Scheimpflug tomography noted keratoconus stages III-IV on both eyes. After 40/35 microns TE-PTK, a CXL was performed for 30 minutes using hypoosmolar riboflavin solution. The left eye was treated first and the right eye 1 month after. Follow-up period was 10 months. Results. One month after the treatment both eyes showed improvement in corneal topography and the UCDVA was better. Eight months after the treatment BSCVA improved to 0,6 in both eyes using Rose K2 contact lenses and remained stable. Conclusion. TE-PTK and CXL using hypotonic riboflavin solution as a same day procedure have been shown to be a safe and promising method in this case of progressive keratoconus. It was necessary to consider certain parameters that could influence the safety and the final outcome of this combined protocol. Igor Knezović, Mirna Belovari Višnjić, and Hrvoje Raguž Copyright © 2015 Igor Knezović et al. All rights reserved. Punctate Inner Choroidopathy Tue, 28 Apr 2015 09:38:59 +0000 Purpose. To report a case of bilateral punctate inner choroidopathy (PIC). Case Report. A 26-year-old Caucasian woman presented with bilateral blurred vision with one year of evolution. There was no relevant systemic disease or family history. Best-corrected visual acuity in the right eye was 20/30 and in the left eye was 20/20; there was no clinically significant refractive error. Fundoscopy evidenced multiple, small, round, yellow-white lesions limited to the posterior pole of both eyes, with greater macular involvement in the RE. There were no signs of inflammation in the anterior chamber or vitreous cavity. Fluorescein angiography revealed the presence of multiple hyperfluorescent lesions more evident in the later stages of the angiogram in both eyes. On indocyanine green angiography, these lesions appeared hypofluorescent in both early and late phases. Optical coherence tomography showed the presence of focal elevations of the retinal pigment epithelium with underlying hyporeflective space, bilaterally. Laboratory and imaging evaluation for evidence of autoimmune and infectious diseases were negative. Conclusion. The PIC is a relatively uncommon condition. In this report, an attempt has been made to describe a classic clinic presentation of this disease in a young and female patient. Mariana Sá-Cardoso, Arnaldo Dias-Santos, Natália Nogueira, Heloísa Nascimento, and Rubens Belfort-Mattos Copyright © 2015 Mariana Sá-Cardoso et al. All rights reserved. Nystagmus in Laurence-Moon-Biedl Syndrome Thu, 23 Apr 2015 07:41:12 +0000 Introduction. Laurence-Moon-Biedl (LMB) syndrome is a rare autosomal-recessive ciliopathy with manifold symptomatology. The cardinal clinical features include retinitis pigmentosa, obesity, intellectual delay, polydactyly/syndactyly, and hypogenitalism. In this paper, the authors report on three siblings with Laurence-Moon-Biedl syndrome associated with a probable pseudocycloid form of congenital nystagmus. Methods. This was a case study conducted at King Khaled Hospital. Results. The authors assert that the nystagmus in Laurence-Moon-Biedl syndrome is essentially similar to idiopathic motor-defect nystagmus and the nystagmus seen in optic nerve hypoplasia, ocular albinism, and bilateral opacities of the ocular media. Conclusion. The data support the previous hypothesis that there is a common brain stem motor abnormality in sensory-defect and motor-defect nystagmus. A. Bruce Janati, Naif Saad ALGhasab, Fazal Haq, Ahmad Abdullah, and Aboubaker Osman Copyright © 2015 A. Bruce Janati et al. All rights reserved. Clinical Findings and Genetic Expression Profiling of Three Pigmented Lesions of the Optic Nerve Thu, 23 Apr 2015 06:32:17 +0000 Background. Optic disk melanocytoma is a primary tumor of the optic disk that represents a clinical diagnostic challenge due to its similarities with melanoma. Purpose. The authors present three cases in which genetic expression profiling was used to identify tumor prognosis of optic disk melanocytoma. Case Series. In two cases fine-needle aspiration biopsy was performed to obtain tissue through a transvitreal route into the apex of the tumor while the patient underwent pars plana vitrectomy, laser ablation, phacoemulsification with posterior chamber intraocular lens implantation, and intravitreal triamcinolone acetonide. In the other case the tissue was obtained after definite enucleation. Conclusion. Genetic expression profiling is a useful diagnostic tool for classification and can provide vital information to the ocular oncologist regarding prognosis. Manuel A. de Alba, Victor M. Villegas, Aaron S. Gold, Andrea Wildner, Fiona J. Ehlies, Azeema Latiff, and Timothy G. Murray Copyright © 2015 Manuel A. de Alba et al. All rights reserved. Jugular Vein Insufficiency and Choroidal Neovascularization in Moderate Myopia: A New Unknown Factor of Additional Risk? Tue, 21 Apr 2015 09:00:05 +0000 To date, choroidal blood flow reduction in highly myopic eyes appears to be related to the development of choroidal neovascularization secondary to local reduction of arterial flow. Instead, no evidence of choroidal neovascularization was found in subjects with low or moderate myopia. The authors’ aim has been to encourage new studies regarding the potential role of chronic retinal venous congestion in the pathogenesis of choroidal neovascularization. In December 2011, a 54-year-old woman with moderate bilateral myopia had a sudden block upon swallowing while she was eating. Subsequently (January 2013) metamorphopsia in the left eye revealed macular degeneration with choroidal neovascularization. The related echo-color Doppler study of the neck veins, performed in November 2014, showed an atypical left jugular insufficiency associated with homolateral hypertension of the superior ophthalmic veins. This singular case highlights the necessity to further investigate the potential role of chronic alterations of intra- and extracranial venous drainage in the disruption of choroidal flow in myopic patients. Massimiliano Farina, Cristiano Ratti, and Eugenio Novelli Copyright © 2015 Massimiliano Farina et al. All rights reserved. Conservative Management in Congenital Bilateral Upper Eyelid Eversion Wed, 15 Apr 2015 12:27:09 +0000 Aim. To report the case of congenital bilateral upper eyelid eversion with severe chemosis that was successfully managed conservatively. Report. The patient was a six-hour-old male neonate with bilateral congenital upper eyelid eversion and severe chemosis, following uneventful delivery. Conservative management consisted of the application of antibiotic ointment and padding the exposed conjunctiva with 5% hypertonic saline-soaked gauze. The eyelids reverted spontaneously on day 3 and the condition was completely resolved by the third week. Conclusion. Congenital upper lid eversion is usually a benign condition which responds well to conservative treatment. Creating awareness amongst healthcare professionals is essential. Viola Andin Dohvoma, Alice Nchifor, Aronette Nana Ngwanou, Elisabeth Attha, Faustin Ngounou, Assumpta Lucienne Bella, and Côme Ebana Mvogo Copyright © 2015 Viola Andin Dohvoma et al. All rights reserved. Acute Corneal Hydrops Mimicking Infectious Keratitis as Initial Presentation of Keratoconus in a 10-Year-Old Child Tue, 31 Mar 2015 13:53:01 +0000 Purpose. To report a case of acute hydrops in a 10-year-old child with advanced keratoconus. Case Presentation. A ten-year-old boy diagnosed as having right eye (RE) infectious keratitis, not responding to antimicrobial therapy, was referred to our hospital. The diagnosis of infectious keratitis was established one month prior to his presentation following an episode of acute corneal whitening, pain, and drop in visual acuity. Topical fortified antibiotics followed by topical antiviral therapy were used with no improvement. Slit lamp examination showed significant corneal protrusion with edema surrounding a rupture in Descemet’s membrane in the RE. The diagnosis of acute corneal hydrops from advanced keratoconus was highly suspected and confirmed with corneal topography. Conclusion. Although a relatively rare disease at the age of 10 years, keratoconus can be rapidly progressive in the pediatric group. Keratoconus should always be considered in the differential diagnosis of progressive vision loss in this age group. Elise A. Slim, Elias F. Jarade, Bilal M. Charanek, Joelle S. Antoun, Adib I. Hemade, Sahar H. Awada, Henry W. Fakhoury, and Carole G. Cherfan Copyright © 2015 Elise A. Slim et al. All rights reserved. Long-Term Outcomes of Radial Keratotomy, Laser In Situ Keratomileusis, and Astigmatic Keratotomy Performed Consecutively over a Period of 21 Years Thu, 19 Mar 2015 07:19:17 +0000 Purpose. To describe a case of 3 refractive procedures performed in one eye over 2 decades. Methods. Case report. Results. A 41-year-old patient presented for refractive surgery evaluation. His ocular history includes bilateral radial keratotomy performed 21 years ago for moderate myopia: spherical equivalence of −4.25 D bilaterally. Postoperative uncorrected visual acuity (UCVA) was 20/30; however, over time he developed a hyperopic shift and UCVA decreased to 20/40 in the right eye. Thus, laser-assisted in situ keratomileusis (LASIK) was performed at an outside institution 6.5 years later, and the patient had initial improvement of UCVA to 20/25. Due to a change in refractive error, the patient underwent uneventful astigmatic keratotomy 13 years after LASIK in the right eye, and 1.5 years after surgery best-corrected visual acuity was 20/25 with manifest refraction of −°.  Conclusion. We report the outcomes and natural refractive progression in a patient who underwent three corneal refractive procedures over two decades. This case underlines the difficulties of long-term management of post-RK hyperopia and astigmatism. Priyanka Chhadva, Florence Cabot, Anat Galor, and Sonia H. Yoo Copyright © 2015 Priyanka Chhadva et al. All rights reserved. An Office-Based Procedure for Hyphema Treatment Wed, 18 Mar 2015 09:59:27 +0000 Three cases of hyphema in three different eyes were treated in the office using an anterior chamber fluid-gas exchange technique. Hyphemas were associated with complications of underlying systemic and retinal disease and in the postoperative period of vitrectomy procedures. Patients were successfully treated without requiring return to operating room. Mikelson MomPremier, Divya Sadhwani, and Saad Shaikh Copyright © 2015 Mikelson MomPremier et al. All rights reserved. Methicillin-Resistant Staphylococcus aureus Ocular Infection after Corneal Cross-Linking for Keratoconus: Potential Association with Atopic Dermatitis Wed, 18 Mar 2015 09:37:26 +0000 Purpose. To report the risk of methicillin-resistant Staphylococcus aureus (MRSA) ocular infection after UVA-riboflavin corneal collagen cross-linking in a patient with atopic dermatitis. Methods. A 22-year-old man, with bilateral evolutive keratoconus and atopic dermatitis, underwent UVA-riboflavin corneal cross-linking and presented with rapidly progressive corneal abscesses and cyclitis in the treated eye five days after surgery. The patient was admitted to the hospital and treated with broad-spectrum antimicrobic therapy. Results. The patient had positive cultures for MRSA, exhibiting a strong resistance to antibiotics. Antibiotic therapy was modified and targeted accordingly. The intravitreal reaction is extinguished, but severe damage of ocular structures was unavoidable. Conclusion. Riboflavin/UVA corneal cross-linking is considered a safe procedure and is extremely effective in halting keratoconus’ progression. However, this procedure is not devoid of infectious complications, due to known risk factors and/or poor patients’ hygiene compliance in the postoperative period. Atopic dermatitis is a common disease among patients with keratoconus and Staphylococcus aureus colonization is commonly found in patients with atopic dermatitis. Therefore, comorbidity with atopic dermatitis should be thoroughly assessed through clinical history before surgery. A clinical evaluation within three days after surgery and the imposition of strict personal hygiene rules are strongly recommended. Romina Fasciani, Antonio Agresta, Alice Caristia, Luigi Mosca, Andrea Scupola, and Aldo Caporossi Copyright © 2015 Romina Fasciani et al. All rights reserved.