Retinal pigment epitheliopathy, macular telangiectasis, and intraretinal crystal deposits in HIV-positive patients receiving ritonavir.

PURPOSE: The purpose of this study was to describe the occurrence of a retinal pigment epitheliopathy associated with macular telangiectasis and intraretinal crystal deposits in three human immunodeficiency virus-positive patients receiving long-term ritonavir as part of highly active antiretroviral therapy. METHODS: The patient's records were reviewed. RESULTS: The CD4 T-cell counts at presentation were 163 cells per microliter, 464 cells per microliter, and 349 cells per microliter, and viral loads were undetectable in all patients. None of the patients had a concurrent AIDS-defining illness. Other significant medical history included hyperlipidemia in one patient and a remote history of lymphoma and tuberculosis in a second patient. Initial visual acuity ranged from 20/32 to 20/400, with a median of 20/150. Anterior segment examination and intraocular pressures were normal in all eyes. Posterior segment examination revealed bilateral macular retinal pigment epitheliopathy with intraretinal crystalline deposits. No hemorrhage or cotton wool spots were seen consistent with human immunodeficiency virus retinopathy, and there was no evidence of previous or active cystomegalovirus retinitis. Fluorescein angiography revealed parafoveal telangiectasis with late leakage in two of the three patients. Optical coherence tomography showed thickening of the macula in three eyes and inner foveal cysts in two eyes. Autofluorescence performed on one patient revealed complete loss of normal retinal pigment epithelium autofluorescence corresponding to the area of retinal pigment epitheliopathy bilaterally. The only medicine common to all 3 patients was ritonavir, and the duration of ritonavir therapy before presentation was 19 months in one patient, 30 months in the second patient, and 5 years in the third patient. CONCLUSION: Retinal changes characterized by retinal pigment epitheliopathy, parafoveal telangiectasias, and intraretinal crystal deposits occurred in three human immunodeficiency virus-positive patients on long-term ritonavir as part of highly active antiretroviral therapy.

MACULAR TELANGIECTASIA TYPE 2 IN AN OTHERWISE HEALTHY TEENAGE BOY WITH CONSANGUINEOUS PARENTS.

PURPOSE: To report a case of macular telangiectasia Type 2 in a teenage boy with consanguineous parents. METHOD: Clinical case report and literature review. RESULTS: A healthy 14-year-old boy presented with mildly reduced vision in both eyes. Visual acuity was 20/30 in the right eye and 20/25 in the left eye. Fundus examination revealed intraretinal crystals in both eyes and an intraretinal pigment plaque temporal to the fovea in the left eye. Neither eye showed evidence of choroidal neovascular membrane or peripheral telangiectasia. Fluorescein angiography revealed temporal juxtafoveal leakage in both eyes. Spectral-domain optical coherence tomography showed ellipsoid layer and external limiting membrane disruption in the right eye and an inner retinal pigment plaque with shadowing in the left eye. The patient was of South Asian descent, and his parents were first cousins. His younger brother and parents were unaffected with a normal fundus examination. CONCLUSION: This is the youngest reported case of a healthy individual with MacTel Type 2, which usually manifests in the fifth or sixth decade. This is also the only reported case of MacTel Type 2 with consanguineous parents. This proband offers a unique opportunity to study possible monogenic etiologies of the condition.

Secondary Coats' response to retinal vasculitis managed with bevacizumab.

We report a case of 22-year-old young male who presented with a 3-month history of gradual and painless decrease of vision in his right eye (RE). On ophthalmological examination, best-corrected visual acuity in his RE was counting finger close to the face. Left eye ophthalmic examination was unremarkable. RE indirect ophthalmoscopy revealed multiple telangiectatic vessels, aneurysmal dilations, extensive yellow (lipid) exudation over the posterior pole along with perivascular exudation, and multiple sclerosed vessels in peripheral retina. Fluorescein angiography also revealed progressive leakage from telangiectasias, multiple aneurysmal outpouchings, extensive capillary dropouts, and vascular communicating channels in all quadrants. Spectral-domain-optical coherence tomography of macula demonstrated marked intraretinal fluid. Based on the above findings, a diagnosis of healed retinal vasculitis with Coats'-like response was made. The patient received 4-weekly two intravitreal bevacizumab injections which resulted in stabilization of the retinal findings and improvement in visual acuity.

BILATERAL COATS REACTION IN BANNAYAN-ZONANA SYNDROME: A SINGLE CASE REPORT.

PURPOSE: To report the clinical features of bilateral Coats reaction in a patient with Bannayan-Zonana syndrome. METHODS: The clinical course and retinal manifestations of a 21-year-old patient with Bannayan-Zonana syndrome and bilateral Coats reaction were studied. Retinal manifestations were documented with clinical examination, ultrawide-field color imaging, and ultrawide-field fluorescein angiography. RESULTS: Best-corrected visual acuities were 20/25 OD and 20/25 OS. Anterior segment examinations were normal bilaterally. The inferotemporal quadrant of the left retina demonstrated retinal telangiectasias, exudation, and a neurosensory retinal detachment extending to the mid-periphery. Fluorescein angiography demonstrated bilateral peripheral nonperfusion and vascular staining. An epiretinal membrane also involved the left macula. CONCLUSION: Bannayan-Zonana syndrome is an autosomal-dominant, hamartomatous disease characterized by a mutation spectrum that involves genes responsible for vascular development. Retinal vascular abnormalities and exudation can be a manifestation of this syndrome.

Combined treatment with intravitreal bevacizumab and laser photocoagulation for exudative maculopathy in facioscapulohumeral muscular dystrophy.

PURPOSE: To report a rare case of exudative maculopathy in a patient with facioscapulohumeral muscular dystrophy (FSHD), and its management. METHODS: Observational case report. RESULTS: A 62-year-old man with genetically confirmed FSHD was referred to our department complaining of decreased visual acuity in his left eye. At presentation, right eye examination was unremarkable and best-corrected visual acuity (BCVA) was 20/20. Left eye BCVA was 20/100 and it presented a dense cataract with the evidence of macular lipid exudation. Cataract surgery combined with intravitreal bevacizumab improved BCVA to 20/20. Postoperative fundus examination disclosed focal macular retinal microvascular dilations with lipid exudation inferotemporal to the fovea. Fluorescein angiography highlighted these macular telangiectatic abnormalities but no peripheral lesions were detected. Spectral domain optical coherence tomography (SD-OCT) showed mild temporal retinal thickening, sparing the fovea. A diagnosis of exudative maculopathy due to macular telangiectasia secondary to FSHD was established. One year later, his left eye vision dropped to 20/32 and macular SD-OCT showed an aggravation of the intraretinal fluid and exudation. He was then submitted to a second intravitreal injection of bevacizumab followed by one angio-guided focal laser photocoagulation session, with a significant improvement. Twelve months later, his BCVA remained 20/20 on both eyes with no recurrence of exudation. CONCLUSION: The present work shows that in cases of visual-threatening macular exudation, intravitreal anti-vascular endothelial growth factor injections combined with focal laser photocoagulation may be a safe and effective treatment. This article also highlights that all FSHD patients should be screened for asymptomatic retinal vascular disorders.

Risk factors in patients with macular telangiectasia 2A in an Asian population: A case-control study.

PURPOSE: The aim of this study was to evaluate risk factors in patients with macular telangiectasia (MacTel) 2A in an Asian population. This was a hospital-based case-control study. METHODS: We reviewed the case records of patients in our hospital, diagnosed as MacTel 2A over a 3-year period from April 2011 to March 2014. Controls were selected from patients seen in the hospital at the same time for visual defects after matching for age and sex. A multivariate logistic regression model was constructed using the variables that showed a statistically significant association (P < 0.05) with MacTel 2A in the univariate analysis. RESULTS: The mean age of the patients with MacTel 2A was 58.63 years. A majority (76; 73.8%) of the patients were female. Of the patients with MacTel 2A, 61 (59.2%) patients had diabetes mellitus, and 50 (48.5%) revealed hypertension. Multivariate logistic regression analysis revealed the presence of diabetes mellitus to be the risk factor with the highest odds ratio (OR) of 5.7 followed by hypertension with an OR of 2.6. Binary logistic regression showed hypermetropia to have a greater risk factor compared to emmetropia, OR 2.64. CONCLUSION: Our case-control study revealed that MacTel 2A is significantly associated with systemic diseases. Diabetes mellitus was found to have the strongest association with MacTel 2A, showing a high OR of 5.7. Systemic hypertension followed by an OR of 2.6. Compared to emmetropia, hypermetropia was significantly associated with MacTel 2A. There could be a genetic link between the two. Determining risk factors draws us close to the goal of identifying the etiopathogenesis of MacTel 2A.

Craniofacial linear scleroderma associated with retinal telangiectasia and exudative retinal detachment.

Linear scleroderma is a characteristic form of scleroderma that typically affects children. Ocular manifestations may be present, especially when the frontoparietal area of the head is affected. We present the case of a 5-year-old boy with craniofacial linear scleroderma ("en coup de sabre") who developed exudative retinal detachment. Angiographic and neuroimaging findings are presented, and the importance of regular fundus examination is highlighted.

Bilateral Proliferative Retinopathy Associated With Hoyeraal-Hreidarsson Syndrome, a Severe Form of Dyskeratosis Congenita.

Dyskeratosis congenita (DC) is the prototypical member of a family of diseases caused by defective telomere maintenance. These "telomeropathies" also include Hoyeraal-Hreidarsson syndrome (HH) and Revesz syndrome, which are severe forms of dyskeratosis congenita, as well as a subset of idiopathic pulmonary fibrosis, aplastic anemia, and Coats' plus syndrome. Retinopathy has only rarely been reported in DC and HH, but is universally present in Coats' plus and Revesz syndromes. The care of these patients is typically a multidisciplinary effort, and this should include monitoring by an ophthalmologist.

Coats-like retinopathy in Joubert syndrome.

An 11-year-old girl with Joubert syndrome was evaluated for a dim red reflex in her left eye. Fundus examination revealed retinal telangiectasias bilaterally compatible with Coats-like pigmentary retinopathy, a phenomenon not previously reported in Joubert syndrome. Coats-like exudative retinopathy may result in permanent visual loss if left untreated. The exudative retinopathy was controlled after multiple sessions of indirect laser photocoagulation and cryotherapy, with a good visual outcome.

Idiopathic Macular Telangiectasia Type 1 with Ruptured Retinal Arterial Macroaneurysm Post Intravitreal Bevacizumab.

A 50-year-old Indian male presented with defective vision in the right eye for 6 months. He was diagnosed to have idiopathic macular telangiectasia (IMT) type 1 associated with diffuse macular edema and multiple retinal arterial macroaneurysms (RAM). Intravitreal bevacizumab was administered for the treatment of macular edema, following which there was a rupture of a preexisting RAM with multilevel retinal hemorrhages. The hemorrhage gradually resolved over time with foveal thinning noted at last visit. We report this case for the rare occurrence of IMT type 1 and also the possibly associated rupture of RAM post intravitreal bevacizumab injection.

A 6-year-old boy with Cornelia de Lange syndrome and Coats disease: case report and review of the literature.

Cornelia de Lange syndrome (CdLS) can result in multiple congenital abnormalities and numerous ocular findings. We report the case of a 6-year-old boy with history of CdLS who presented with Coats disease. The findings in this case are compared to those found in the two previously reported cases of concomitant CdLS and Coats disease. The low incidence of these two disorders makes it highly unlikely that the connection is random in these 3 cases. The number of patients with both Cornelia de Lange syndrome and Coats disease is likely underestimated due to the difficulty in examining the peripheral retina in this patient population.

Current management of Coats disease.

Since its original description in 1908, Coats disease has been recognized as an idiopathic cause of severe vision loss with a remarkable diversity in clinical presentation and morphology. Key clinical and imaging variables are helpful in differentiating Coats disease from life-threatening malignancies, and proper management revolves around a thorough knowledge of the differential diagnosis. Despite significant advancement in scientific understanding of the disease process and clinical spectrum, the underlying etiology remains obscure, and both primary and secondary forms are recognized. With the development of anti-VEGF therapy, vitreoretinal specialists have a new, effective adjunct to the clinical management of exudates, macular edema, and serous retinal detachment. We highlight the history, diagnostic challenges, evolving clinical spectrum, and current management of Coats disease.

Exudative vasculopathy in a child with Leber congenital amaurosis.

Leber congenital amaurosis is a severe retinal dystrophy that causes blindness or severe visual impairment, usually before the age of 1 year. We present the case of a 13-year-old girl with Leber congenital amaurosis who developed an exudative vasculopathy. She was successfully treated with cryotherapy and argon green laser. To our knowledge, only 4 cases of this condition in patients with Leber congenital amaurosis have been reported previously. This phenotype may be related to c.2991+1655A>G (p.Cys998X) mutations in the CEP290 gene.

An unusual case of Coats disease associated with Takayasu arteritis.

A 3-year-old Malay boy with strabismus in the left eye was found to have Coats disease in the same eye and underlying Takayasu arteritis. Coats disease is usually idiopathic but can be associated with systemic and ocular conditions. To our knowledge, this is the first reported case of Coats disease associated with Takayasu arteritis.