Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disorder whose ophthalmic associations most commonly consist of pigmentary fundus changes and scotopic electroretinogram abnormalities. A 23-year-old man with advanced DMD and associated cardiopulmonary compromise complaining of floaters presented with a striking retinal vasculopathy characterized by vitreous hemorrhage, neovascularization, capillary drop-out, and prominent saccular venular aneurysms diffusely throughout the fundus of both eyes. This vasculopathy was promptly treated with panretinal phocoagulation with marked improvement to at least 1 year. This report suggests that early identification and prompt treatment of DMD may be important in managing this condition.[Ophthalmic Surg Lasers Imaging Retina. 2013;44:293-295.].

Purpose:

To report a case of autosomal dominant dyskeratosis congenita (AD-DC) complicated by bilateral retinal vasculopathy and proliferative retinopathy with vitreous hemorrhage in the right eye, in the absence of pancytopenia.


Methods:

We report a 32-year-old woman who presented with floaters in her right eye. She underwent complete ophthalmic examination and fundus fluorescein angiography.


Results:

Funduscopic examination revealed vascular sheathing in the temporal periphery of both eyes and a vitreous hemorrhage in the right eye. Fluorescein angiography showed retinal neovascularization in the right eye and bilateral temporal peripheral capillary nonperfusion. Treatment consisted of laser photocoagulation directed to the areas of capillary nonperfusion in both eyes. A point mutation in the TERC gene confirmed the diagnosis of AD-DC.


Conclusions:

Autosomal dominant dyskeratosis congenita is a rare form of inherited bone marrow failure and its presentation is milder than seen in patients with X-linked and autosomal recessive mutations. These patients may lack the classic clinical triad, so it is important to have a high index of suspicion and to be aware of retinal vasculopathy as a complication of dyskeratosis congenita as it may severely compromise vision. Appropriate treatment includes prompt laser photocoagulation to areas of retinal nonperfusion.

Recently developed capture-mark-recapture methods allow us to account for capture heterogeneity among individuals in the form of discrete mixtures and continuous individual random effects. In this article, we used simulations and two case studies to evaluate the effectiveness of continuously distributed individual random effects at removing potential bias due to capture heterogeneity, and to evaluate in what situation the added complexity of these models is justified. Simulations and case studies showed that ignoring individual capture heterogeneity generally led to a small negative bias in survival estimates and that individual random effects effectively removed this bias. As expected, accounting for capture heterogeneity also led to slightly less precise survival estimates. Our case studies also showed that accounting for capture heterogeneity increased in importance towards the end of study. Though ignoring capture heterogeneity led to a small bias in survival estimates, such bias may greatly impact management decisions. We advocate reducing potential heterogeneity at the sampling design stage. Where this is insufficient, we recommend modelling individual capture heterogeneity in situations such as when a large proportion of the individuals has a low detection probability (e.g. in the presence of floaters) and situations where the most recent survival estimates are of great interest (e.g. in applied conservation).

A 49-year-old woman had blurred vision and floaters of 4 days duration in the right eye. Ocular examination revealed granulomatous panuveitis, vitritis and diffuse retinal vasculitis. Following a strongly positive tuberculin skin test, she received antitubercular therapy with oral steroids and immunosuppressants. A year later, despite therapy, vitritis and vasculitis persisted. Additionally, yellowish white lesions appeared beneath the retinal pigment epithelium. Fluorescein angiography revealed a leopard skin appearance. Following a negative vitreous biopsy, she was subjected to a chorioretinal biopsy which revealed non-Hodgkin's lymphoma. MRI was normal. The ocular lesions resolved following intravitreal methotrexate injections. MRI of the brain was repeated every 3 months to rule out central nervous system (CNS) involvement. About 2.5 years after initial presentation, she complained of ataxia, hypersomnia and speech difficulty. MRI of the brain now showed lesions in the thalamocapsular region and the corpus callosum splenium suggestive of CNS lymphoma. She underwent a whole brain radiation with symptomatic improvement followed by chemotherapy.

Intraocular lymphomas are rare, and they have poor prognosis. Thus, early diagnosis and treatment are needed. A definitive diagnosis of a lymphoma is based on cytological analysis of the intraocular fluids or tissues. We report two cases of intraocular lymphoma diagnosed by the analyses of vitreous and infusion fluid.Case 1 was a 66-year-old woman who complained of eye floaters and was found to have diffuse vitreous opacification bilaterally. She received corticosteroid therapy, however the vitreous opacification was not resolved, and her visual acuity (VA) remained reduced. She underwent pars plana vitrectomy (PPV), and vitreous and infusion fluid were collected to determine the cause of the reduced VA. The undiluted vitreous obtained from core PPV was submitted for cytokine analysis, and infusion fluid was obtained from the machine cassette after full PPV and used for cytological analysis. Case 2 was a 62-year-old man referred with low vision and was found to have diffuse vitreous opacification in the right eye and dot hemorrhages in both eyes. Four years earlier, he had been diagnosed with diffuse large B-cell lymphoma of the paranasal sinuses and was in remission after chemotherapy. Because metastasis of the lymphoma was suspected, he underwent PPV, and intraocular samples were collected as in Case 1.Atypical lymphoid cells were detected from the infusion fluid in both cases. The ratio of interleukin (IL)-10 to IL-6 was greater than 1.0 in both cases. These results allowed us to make a diagnosis of intraocular lymphoma: primary intraocular lymphoma in Case 1 and metastatic intraocular lymphoma in Case 2.Vitreous and infusion fluid collected during PPV can be used for diagnosing an intraocular lymphoma.

The purpose of this case report is to describe clinical and angiographic findings of retinal vasculitis in acute Toxocara canis neuroretinitis associated with systemic infection.A 16-year-old male presented with a 1 week history of left eye pain, floaters, and decreased visual acuity. Ocular examination was consistent with neuroretinitis and retinal vasculitis. Fluorescein angiography demonstrated leakage of fluorescein from the optic nerve and the retinal veins. Clinical and laboratory evaluation were consistent with systemic Toxocara canis infection.Ocular T. canis may present with retinal vasculitis in young patients in the setting of acute systemic infection.

The objective of this study was to report a diagnostic dilemma in a patient with multifocal choroiditis. This is a case report study.A 68-year-old female presented with new onset of floaters in both eyes and diagnosed with bilateral panuveitis. Her visual acuity was 20/200 in both eyes. Slit-lamp examination showed 1+ anterior chamber cells in both eyes. Ophthalmoscopic examination of both eyes showed vitreous cells, optic disc edema, small amounts of subretinal hemorrhage, and punctate choroidal lesions throughout the fundus. Laboratory work-up revealed a positive QuantiFERON-TB Gold result, and the patient was started on antituberculosis medications. However, given the patient's intolerance to antituberculosis medications and progressive worsening of vision, she underwent a chorioretinal biopsy to assist with determining a definitive diagnosis. Biopsy results showed noncaseating granulomas and were negative for an infectious etiology. The patient was diagnosed with ocular sarcoidosis and started on immunomodulatory therapy for sarcoid-related multifocal choroiditis.Multifocal chorioretinal lesions of unknown etiology can present as a diagnostic and therapeutic dilemma. Laboratory work-up is useful in determining an etiology; however, more invasive procedures, such as chorioretinal biopsy, may be necessary to guide treatment.

Toxoplasma retinochoroiditis can have an atypical presentation and be difficult to diagnose in immunocompromised patients. Accurate diagnosis and appropriate treatment is important since the disease can be aggressive in these patients. This paper is a case report with literature review, emphasizing on the diagnosis and treatment of Toxoplasma retinochoroiditis.A 27-year-old male with chronic myelogenous leukemia with history of bone marrow transplantation presented with floaters in his right eye. Fundus exam showed bilateral, multifocal retinochoroiditis with subsequent development of a mild vitritis. Serum cytomegalovirus and toxoplasmosis antibody titers and syphilis screen were negative. Aqueous polymerase chain reaction (PCR) analysis revealed the presence of Toxoplasma gondii DNA OU. Clindamycin (1.0 mg/0.1 mL) was injected bilateral intravitreal OU twice at 4 days apart with subsequent resolution of retinochoroiditis.When evaluating retinochoroiditis in an immunocompromised patient, one must keep a high index of suspicion for atypical presentations of well-known disease entities. Aqueous and vitreous samples for PCR can be useful in obtaining an accurate diagnosis and therefore provide appropriate management for the patient. Intravitreal clindamycin is an option for treatment in these patients.

Intravitreous drug delivery systems are injected or surgically implanted for sustained release of drugs to the posterior segment for conditions such as vein occlusions and diabetic macular edema. Since these devices rely upon the vitreous body for support, concerns regarding their migration and prolonged direct retinal contact have limited their use in vitrectomized eyes.Three patients with persistent macular edema received dexamethasone intravitreal implantation following vitrectomy employing the authors' novel technique for embedding the system in a residual inferior vitreous skirt that serves as a pillow on which the implant rests after pars plana vitrectomy.At minimum 6-month follow-up, all patients had improved visual acuity and improved central retinal thickness on optical coherence tomography, were without complaints of floaters or migration of the implant, and were without complications. The implant consistently remained embedded in the inferior vitreous skirt.The technique may mitigate concerns regarding implant migration and direct retina contact.

PurpseTo describe the incidence and features of intraoperative retinal breaks caused by induction of posterior hyaloid face (PHF) separation during 23-gauge pars plana vitrectomy (PPV).MethodsA prospective, consecutive, single surgeon, observational study of patients undergoing 23-gauge transconjunctival sutureless vitrectomy for macular pathology or floaters, was carried out between 2009 and 2011 at Calderdale Royal Hospital, UK. PHF separations were categorised as either suction induced or requiring membrane blue (DORC Limited) with suction (adherent). The outcome measure was dichotomised into retinal break or tear and no retinal break or tear. Forced entry and parsimonious multiple logistic regression analyses were conducted, using statistical software, to test for significance of association of the set of recorded factors and covariates with the dichotomised outcome measure.ResultsData were collected and analysed from 137 patients. The incidence of iatrogenic retinal breaks associated with PHF separation during 23-gauge PPV was 18.2%. Under both forced entry and parsimonious multiple logistic regression models, the odds of a retinal break or tear reduce by about 3-4% for each increasing year of age. Findings also showed some substantive association in the forced entry model, with the odds of a retinal break or tear for adherent cases being around 3.8 times those for suction-only cases.ConclusionsMechanical detachment of the PHF represents an important risk factor in the formation of retinal breaks. Particular care should be taken to examine intraoperatively for iatrogenic breaks in order to prevent missed breaks and subsequent rhegmatogenous retinal detachments.