ABSTRACT
We report a rare case of Bietti's crystalline dystrophy presenting with choroidal neovascular membrane (CNVM) which was treated with three injections of intravitreal ranibizumab. The CNVM underwent scarring after the injections with stabilization of visual acuity at a follow-up period of 12 months suggesting that intravitreal ranibizumab may have a role in the management of CNVM in these rare cases.
Subject(s)
Adult , Antibodies, Monoclonal, Humanized/administration & dosage , Choroidal Neovascularization/drug therapy , Choroidal Neovascularization/etiology , Corneal Dystrophies, Hereditary/complications , Corneal Dystrophies, Hereditary/diagnosis , Diagnosis, Differential , Dose-Response Relationship, Drug , Electroretinography , Fluorescein Angiography , Follow-Up Studies , Fundus Oculi , Humans , Intravitreal Injections , Male , Retinal Diseases/complications , Retinal Diseases/diagnosis , Tomography, Optical Coherence , Visual AcuityABSTRACT
PURPOSE: Molecular genetic diagnostics for retinoblastoma are prerequisite for accurate risk prediction and effective management. Developing a retinoblastoma diagnostic model to establish a flow for laboratory tests is thus a necessity for tertiary ophthalmic institutions. An efficient diagnostic model could reduce the overall health care costs, redirect the resources to the high risk group and also avoid unnecessary worry for families. To the best of our knowledge there has hitherto been no comprehensive diagnostic model for retinoblastoma implemented in any institution in India. METHODS AND DISCUSSION: The diagnostic model demonstrates the logical and practical flow of various genetics tests like karyotyping, loss of heterozygosity analysis, molecular deletion, linkage analysis (familial cases), mutation screening of -CGA exons first and then non-CGA exons, methylation screening of RB1 and essential promoter regions screening in a laboratory. Conclusions: The diagnostic model proposed offers acomprehensive methodology to identify the causative two-hits for retinoblastomas that could be used while genetic counseling families. This model is applicable in tertiary hospitals in India and neighboring countries, which have the highest incidence of retinoblastoma and fertility rates in the world. We suggest that this diagnostic model could also be applied with modification for other cancers.