Retinal capillaritis in a CRB1-associated retinal dystrophy

Purpose: To report a case of CRB1-associated retinal dystrophy characterized by vitritis, retinal capillaritis, and cystoid macular edema (CME).

Methods: A case report.

Results: An 8-year-old boy was diagnosed with intermediate uveitis and treated with corticosteroids. He was subsequently diagnosed with retinal dystrophy and found to have two CRB1 mutations.

Conclusions: Retinal capillaritis, vitritis, and CME could be inflammatory features of CRB1 retinal dystrophy in our young patient.     

Autosomal-dominant Leber Congenital Amaurosis Caused by a Heterozygous CRX Mutation in a Father and Son

Background: Leber congenital amaurosis (LCA) is most often an autosomal recessive disorder. We report a father and son with autosomal dominant LCA due to a mutation in the CRX gene.

Materials and Methods: DNA screening using an allele specific assay of 90 of the most common LCA-causing variations in the coding sequences of AIPL1, CEP290, CRB1, CRX, GUCY2D, RDH12 and RPE65 was performed on the father. Automated DNA sequencing of his son examining exon 3 of the CRX gene was subsequently performed.

Results: Both father and son have a heterozygous single base pair deletion of an adenine at codon 153 in the coding sequence of the CRX gene resulting in a frameshift mutation.

Conclusion: Mutations involving the CRX gene may demonstrate an autosomal dominant inheritance pattern for LCA.     

Macular hole in Stargardt disease: Clinical and ultra-structural observation

Purpose: To report for the first time a case report of a Stargardt disease patient who developed a macular hole (MH) which was treated with a surgical approach.

Method: Case report.

Results: After vitrectomy a complete closure of the MH was obtained and the best-corrected visual acuity remained stable. No complications were reported after one year of follow-up. An ultra-structural examination of the removed internal limiting membrane (ILM) and epiretinal membrane (ERM) was carried out under electron microscopy.

Conclusion: Vitreo-retinal surgery could represent a therapeutic option to treat vitreo-retinal interface abnormalities associated with inherited retinal diseases.     

Topical carbonic anhydrase inhibitors in macular edema associated with Alström syndrome

Background: Alström syndrome is a rare genetic ciliopathy caused by a mutation in the ALMS1 gene. The syndrome is characterized by cone-rod dystrophy, dilated myocardiopathy, childhood obesity and sensorineural hearing loss. To date, cystoid macular edema has not been reported.

Methods: A female affected by Alström syndrome developed bilateral cystoid macular edema evidenced by optical coherence tomography. A topical carbonic anhydrase inhibitor was prescribed.

Results: Complete resolution of the cystoid macular edema was achieved, though visual acuity did not improve.

Conclusions: Topical carbonic anhydrase inhibitors may have a role in the treatment of macular edema in syndromic retinal dystrophies such as Alström syndrome.     

Juvenile Xanthogranuloma–A Rare Cause of Unilateral Orbital Swelling in an Elderly Patient

Objective: To report the clinical and pathologic features of an elderly patient with a unilateral orbital swelling and proptosis caused by Juvenile Xanthogranuloma diagnosed and confirmed by orbital biopsy.

Design: Interventional case report.

Participants: One patient.

Intervention: Steroids (Medrol dose pack) and radiation.

Main Outcome Measures: Unusual clinical presentation and pathological features of Juvenile Xanthogranuloma in the orbit.

Conclusions: Juvenile Xanthogranuloma affecting one orbit is very rare with unilateral involvement in an elderly patient. Steroids and radiation therapy were very effective in treatment and provided impressive results.     

Use of Aqueous Humor and Flow Cytometry in Ocular Sarcoidosis Diagnosis

Purpose: To report the use of flow cytometry on aqueous fluid to diagnose sarcoidosis in a patient with recurrent granulomatous anterior uveitis.

Methods: Case report.

Results: Flow cytometry on aqueous fluid demonstrated a CD4/CD8 ratio >9.5, consistent with a diagnosis of sarcoidosis.

Conclusions: Flow cytometry on aqueous fluid may offer an additional pathway for diagnosing sarcoid anterior uveitis.     

Leuconostoc as a Cause of Endophthalmitis Post-intravitreal Injection of Ranibizumab

Purpose: The authors report a case of endophthalmitis after intravitreal injection of ranibizumab.

Methods: After searching for extensive laboratory tests to isolate the etiologic agent

Results: The agent was determined as Leuconostoc mesenteroides, gram-positive cocci, vancomycin resistant.

Discussion: Considerations regarding this bacterium were done by calling attention to its rarity, difficulty of isolation, and action on secondary comorbidities as opportunistic pathogen.     

Giant Orbital Hydrocystoma in Children: Case Series and Review of the Literature

Objective: To describe the clinical features, ancillary diagnostic studies, and treatment outcomes in a cohort of pediatric patients with giant orbital hydrocystomas.

Design: Retrospective case series.

Participants: Pediatric patients with giant orbital hydrocystomas treated in the practice of one surgeon (PDL).

Methods: A retrospective review of the clinical charts of pediatric patients with orbital hydrocystoma was performed and diagnostic information collected. Results were reviewed and compared with reported clinical data in the literature.

Main Outcome Measures: Clinical presentation and histopathological findings of pediatric orbital hydrocystomas.

Results: Three pediatric cases of giant orbital hydrocystoma were encountered, each with an unusual feature, including deep orbital location, occurrence following trauma, and eccrine pathology.

Conclusion: Giant orbital hydrocystomas may present in the pediatric population. Ophthalmologists should be cognizant of this entity when evaluating a child with a large, cystic orbital mass.     

Rod-Cone Dystrophy with Initially Preserved Visual Acuity Despite Early Macular Involvement Suggests Recessive CERKL Mutations

Purpose: To highlight that recessive CERKL mutations cause an early-onset rod-cone dystrophy with initially preserved visual acuity despite early macular involvement, an unusual and distinct initial phenotypic presentation.

Methods: A retrospective case series.

Results: Two young Saudi Arabian adults complained of worsening night blindness over the preceding few years, one of whom had been symptomatic since early childhood. Both had retinal pigment epithelium (RPE) mottling/granularity, vascular attenuation, few bone spicules, and frank macular RPE atrophic changes despite relatively preserved visual acuity. Electroretinography was non-recordable, and ocular coherence tomography confirmed retinal thinning, particularly of the outer nuclear layer in the fovea. Each patient harbored a different homozygous CERKL mutation (p.L245P, p.C333*). The few prior reports that detail the presenting phenotype of CERKL mutations describe children or young adults with the similar unusual presenting constellation of findings: rod-cone dystrophy and frank macular atrophy but relatively preserved visual acuity. With time, central vision is affected.

Conclusions: The initial presenting features of CERKL-related retinopathy are distinct and unusual. Recognition of this initial presenting phenotype can facilitate earlier molecular diagnosis and genetic counseling.     

Varicella Zoster-related Occlusive Retinal Vasculopathy—A Rare Presentation

Purpose: To report a case of occlusive retinal vasculopathy following varicella zoster infection in an immunocompetent adult.

Design: Observational case report.

Methods: A patient with defective vision following chickenpox was evaluated with fluorescein angiography, spectral domain optical coherence tomography and fundus auto fluorescence.

Results: Fundus showed multiple cotton wool spots and a well-demarcated zone of retinal ischemia in the posterior pole with normal optic disc without any evidence of anterior or posterior uveitis. Fluorescein angiography, spectral domain optical coherence tomography and fundus auto fluorescence findings revealed occlusive vasculopathy as the cause of defective vision.

Conclusions: We report a hitherto undescribed case of purely occlusive vasculopathy following varicella zoster infection without features of vasculitis or anterior and posterior uveitis in an immunocompetent individual.     

Dengue Fever Presenting as Purtscher-like Retinopathy

Purpose: To report the fundus manifestations and spectral-domain optical coherence tomographic (SD-OCT) features of dengue fever presenting as Purtscher-like retinopathy.

Methods: Retrospective review of two cases of dengue fever.

Results: Color fundus photograph revealed the presence of cotton-wool spots in a Purtscher-like configuration in the posterior pole of all study eyes. SD-OCT demonstrated increased reflectivity signal in the inner retinal layers, and after a variable follow-up period, there was complete disappearance of cotton-wool spots and persistence of the hyperreflectivity signal.

Conclusion: We report two unique cases of dengue fever associated with retinal lesions in a configuration of Purtscher-like retinopathy.     

Intraocular Lymphoma Masquerading as Recurrent Iridocyclitis: Findings Based on in vivo Confocal Microscopy

Purpose: To emphasize the application prospects of in vivo confocal microscopy (IVCM) in distinguishing intraocular lesions from inflammatory and neoplastic diseases.

Methods: Retrospective case report.

Results: A patient with neoplastic masquerade syndrome initially underwent IVCM examination. After six separate intravitreal injections of 400 mg/0.1 ml methotrexate, IVCM revealed a complete remission of intraocular lymphoma.

Conclusions: Although IVCM findings alone are not enough to diagnose intraocular neoplasm with absolute certainty, they can provide useful indication for distinguishing between intraocular inflammatory diseases and neoplasms.     

Stroke Due to Cerebral Vasculitis in a Patient with Relentless Placoid Chorioretinitis

Purpose: To report the first case of stroke in a patient with relentless placoid chorioretinitis.

Methods: Observational case report.

Results: A 20-year-old female with newly diagnosed relentless placoid chorioretinitis was urgently evaluated for unilateral paresthesias. She was found to have acute bilateral pontine strokes and cerebral vasculitis on magnetic resonance imaging of the brain and cerebral angiography.

Conclusions: We report the first case of stroke due to cerebral vasculitis in a patient with relentless placoid chorioretinitis. This case emphasizes the need for timely evaluation of neurological symptoms in patients with this ocular diagnosis.     

Photoreceptor Cell Injury Starts in the Initial Stage of Vogt–Koyanagi–Harada Disease

Purpose: To demonstrate photoreceptor cell injury in Vogt-Koyanagi-Harada (VKH) disease.

Methods: The SD-OCT and FAF tests of 16 patients diagnosed with VKH disease that was followed up from the initial stage to the convalescent stage were reviewed.

Results: In the initial stage of VKH disease, there was hyperautofluerescence around the macular edema. In the convalescent stage of VKH disease, loss of photoreceptor and injury of RPE have been detected by OCT scan at the same area, which was corresponded with the abnormalities in FAF.

Conclusions: The VKH disease causes photoreceptor injury starting in the initial stage of the disease.     

A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy

Background: To identify the disease-causing mutation in a consanguineous family of Morrocan origin with syndromic autosomal recessive (ar) cone-rod dystrophy (CRD) in two patients and describe genotype-phenotype correlations.

Materials and Methods: Genome-wide homozygosity mapping and direct sequencing of C8orf37, located in a homozygous interval, was performed in the family. mRNA analysis revealed the effect of the newly identified splice-site mutation. For a comparative analysis phenotypic and genetic data of C8orf37 mutations were extracted from published cases.

Results: The new splice-site mutation c.155+2T>C identified in the family results in a skipping of 82 bp. The CRD phenotypes of our patients were consistent with previous reports. Non-ocular findings in our patients and two previously described patients were postaxial polydactyly present at birth. Both families with additional postaxial polydactyly had splice site mutations affecting intron 1 of C8orf37, one at the slice donor and one at the splice acceptor site.

Conclusions: This report extends the genotypic spectrum of C8orf37-associated retinal dystrophies and demonstrates for the first time a genotype-phenotype correlation between an arCRD-polydactyly-association and truncating germline mutations affecting the N-terminal region of the protein. Furthermore, our findings underline the ciliary function of C8orf37 protein.     

Rituximab and Acute Retinal Necrosis in a Patient with Scleromalacia and Rheumatoid Arthritis

Background: Rituximab is a widely used biologic agent, which has shown favourable results in the treatment of vasculitis. But immunosuppressive treatment also bears the risk of severe complications.

Methods: A patient with rheumatoid arthritis, progressive scleromalacia, and acute retinal necrosis on therapy with rituximab is reported.

Results: For the first time, a correlation between rituximab and acute retinal necrosis in a patient with progressive rheumatoid scleromalacia is shown.

Conclusions: Although rituximab is a promising biologic agent for the treatment of autoimmune diseases, it bears the risk of reactivation of viral infections, including the onset of acute retinal necrosis.     

Long-Term Results of Photodynamic Therapy for Choroidal Neovascularization in Pediatric Patients with Best Vitelliform Macular Dystrophy

Purpose: To report long-term results of photodynamic therapy (PDT) in young patients affected by Best vitelliform macular dystrophy (VMD) complicated by choroidal neovascularization (CNV).

Methods: We evaluated a group of 30 VMD patients with confirmed mutations in the BEST1 gene. Five of these patients had been diagnosed with CNV when younger than 15 years of age and three of them were treated by PDT. After the treatment they were followed for an average period of 77 months (range 62–99).

Results: In all the treated eyes visual acuity was stable during the first year of follow-up and then slowly improved even some years after the treatment. The improvement in visual acuity was associated with the development of fibrous tissue in the macula.

Conclusions: PDT was a safe procedure in our series of pediatric patients with VMD complicated by CNV. It was followed by a CNV regression and a consequent improvement in visual acuity which continued to progress even several years after the treatment.     

Boston Type I Keratoprosthesis Implantation Following Autologous Submandibular Gland Transplantation for End Stage Ocular Surface Disorders

Purpose: To describe the results of Boston keratoprosthesis implantation in a patient with Stevens–Johnson syndrome following autologous submandibular gland transplantation.

Design: Observational case report.

Methods: We report the case of a man diagnosed with Stevens–Johnson syndrome. Autologous submandibular gland transplantation was performed in the right eye in 2008 to ameliorate tear film deficiency. Due to the improvement in the microenvironment of the ocular surface, Boston keratoprosthesis implantation was performed in the right eye in 2011.

Results: He maintained a VA of 20/100 for 12 months. At the last follow-up visit (54 months), his VA had declined to finger count level due to de novo glaucoma, which was treated with glaucoma drainage device implantation, cyclophotocoagulation and topical anti-glaucoma medications.

Conclusions: The procedures described provide patients with end-stage ocular surface disease an option to lessen the severity of keratoconjunctivitis sicca and to regain their VA.     

Enucleation Refusal for Retinoblastoma: A Global Study

Background: Enucleation (eye removal) is often the only curative treatment for the childhood eye cancer retinoblastoma, yet parental refusal of enucleation commonly contributes to treatment delay and poor survival globally.

Methods: Physicians who treat retinoblastoma were surveyed to glean underlying reasons for treatment refusal.

Results: Refusal rates were higher when less time was spent with parents explaining retinoblastoma/enucleation, and where fewer support services were available. Reasons for refusal included parental belief in alternative treatments, culture, and social stigma.

Conclusions: We suggest strategies to increase parental compliance with enucleation and save the lives of children with retinoblastoma.     

A family harboring homozygous FZD4 deletion supports the existence of recessive FZD4-related familial exudative vitreoretinopathy

Purpose: To document recessive FZD4-related familial exudative vitreoretinopathy.

Methods: Retrospective case series.

Results: Two brothers, the only two males among five siblings, had bilateral infantile retinal detachments and were referred for genetic counseling. Next-generation sequencing uncovered a homozygous FZD4 frameshift deletion in both affected brothers (c.40_49delCCCGGGGGCG; p.Pro14Serfs*44). None of the other immediate family members had clinical evidence for retinal disease, including the three family members who underwent confirmatory genetic testing and were found to be heterozygous for the mutation (both parents and one sister).

Conclusions: The findings in this family support the concept that some mutated FZD4 alleles can be associated with recessive rather than dominant disease.