@article {2018, title = {Bacillary Layer Detachment after Photodynamic Therapy.}, journal = {Ophthalmol Retina}, volume = {6}, year = {2022}, month = {2022 06}, pages = {500}, keywords = {Fluorescein Angiography, Humans, Photochemotherapy, Verteporfin}, issn = {2468-6530}, doi = {10.1016/j.oret.2022.02.012}, author = {Mishra, Kapil and Mahajan, Vinit B} } @article {1091, title = {Optical Coherence Tomography Angiography of RPGR-Associated Retinitis Pigmentosa Suggests Foveal Avascular Zone is a Biomarker for Vision Loss.}, journal = {Ophthalmic Surg Lasers Imaging Retina}, volume = {50}, year = {2019}, month = {2019 02 01}, pages = {e44-e48}, abstract = {

RPGR-associated retinitis pigmentosa (RP) is a progressive disease with retina degeneration. Optical coherence tomography angiography (OCTA) is an imaging technique that provides novel insights. The authors report two affected male siblings who underwent OCTA imaging. The area of the foveal avascular zone (FAZ) was measured. Although the younger sibling exhibited more advanced clinical disease, his visual acuity was superior to his older sibling. OCTA imaging revealed a better preserved FAZ in the younger sibling as the reason for this. It also highlighted attenuation of choriocapillaris / choroid layers as biomarkers for disease severity. This provides new insights into retinal degeneration in RPGR-associated RP. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:e44-e48.].

}, keywords = {Biomarkers, Capillaries, Choroid, Eye Proteins, Fluorescein Angiography, Fovea Centralis, Humans, Male, Middle Aged, Retinitis Pigmentosa, Tomography, Optical Coherence, Vision Disorders}, issn = {2325-8179}, doi = {10.3928/23258160-20190129-18}, author = {Tang, Peter H and Jauregui, Ruben and Tsang, Stephen H and Bassuk, Alexander G and Mahajan, Vinit B} } @article {713, title = {Quantitative autofluorescence as a clinical tool for expedited differential diagnosis of retinal degeneration.}, journal = {JAMA Ophthalmol}, volume = {133}, year = {2015}, month = {2015 Feb}, pages = {219-20}, keywords = {Adult, ATP-Binding Cassette Transporters, Diagnosis, Differential, DNA, DNA Mutational Analysis, Fluorescein Angiography, Fundus Oculi, Humans, Male, Mutation, Optical Imaging, Retina, Retinal Degeneration, Retinitis Pigmentosa}, issn = {2168-6173}, doi = {10.1001/jamaophthalmol.2014.4507}, author = {Marsiglia, Marcela and Lee, Winston and Mahajan, Vinit B and Zernant, Jana and Delori, Fran{\c c}ois C and Tsang, Stephen H and Sparrow, Janet R} } @article {699, title = {Structural modeling of a novel CAPN5 mutation that causes uveitis and neovascular retinal detachment.}, journal = {PLoS One}, volume = {10}, year = {2015}, month = {2015}, pages = {e0122352}, abstract = {

CAPN5 mutations have been linked to autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV), a blinding autoimmune eye disease. Here, we link a new CAPN5 mutation to ADNIV and model the three-dimensional structure of the resulting mutant protein. In our study, a kindred with inflammatory vitreoretinopathy was evaluated by clinical eye examinations, DNA sequencing, and protein structural modeling to investigate the disease-causing mutation. Two daughters of an affected mother demonstrated symptoms of stage III ADNIV, with posterior uveitis, cystoid macular edema, intraocular fibrosis, retinal neovascularization, retinal degeneration, and cataract. The women also harbored a novel guanine to thymine (c.750G\>T, p.Lys250Asn) missense mutation in exon 6 of CAPN5, a gene that encodes a calcium-activated cysteine protease, calpain-5. Modeling based on the structures of all known calpains revealed the mutation falls within a calcium-sensitive flexible gating loop that controls access to the catalytic groove. Three-dimensional modeling placed the new mutation in a region adjacent to two previously identified disease-causing mutations, all three of which likely disrupt hydrogen bonding within the gating loop, yielding a CAPN5 with altered enzymatic activity. This is the third case of a CAPN5 mutation leading to inherited uveitis and neovascular vitreoretinopathy, suggesting patients with ADNIV features should be tested for CAPN5 mutations. Structural modeling of novel variants can be used to support mechanistic consequences of the disease-causing variants.

}, keywords = {Base Sequence, Calpain, Computational Biology, DNA Primers, Female, Fluorescein Angiography, Humans, Models, Molecular, Molecular Sequence Data, Mutation, Missense, Pedigree, Phenotype, Protein Conformation, Retinal Detachment, Sequence Analysis, DNA, Tomography, Optical Coherence, Uveitis, Vitreoretinopathy, Proliferative}, issn = {1932-6203}, doi = {10.1371/journal.pone.0122352}, author = {Bassuk, Alexander G and Yeh, Steven and Wu, Shu and Martin, Daniel F and Tsang, Stephen H and Gakhar, Lokesh and Mahajan, Vinit B} } @article {725, title = {Decreased macular thickness in nonproliferative macular telangiectasia type 2 with oral carbonic anhydrase inhibitors.}, journal = {Retina}, volume = {34}, year = {2014}, month = {2014 Jul}, pages = {1400-6}, abstract = {

PURPOSE: To evaluate whether carbonic anhydrase inhibitors reduce the macular thickness and/or cystic spaces in patients with macular telangiectasia (MacTel) Type 2.

METHODS: Retrospective review of patients with nonproliferative cystoid changes associated with MacTel seen at the University of Iowa between 2009 and 2012. Carbonic anhydrase inhibitors were used in 8 patients with MacTel Type 2. Five patients with MacTel Type 2 were observed during this period. Initial and final visual acuities were documented. The presence of cystic spaces and the retinal thickness were measured with spectral-domain optical coherence tomography.

RESULTS: Patients treated with oral carbonic anhydrase inhibitors showed significant reduction in both the cystoid cavities and central macular thickness when compared with the patients who were observed (-12.2 μm; P = 0.020). The reduction in retinal thickness was more pronounced in patients receiving acetazolamide (-20.13 μm; P = 0.007) compared with methazolamide (-6.25 μm; P = 0.177). There was no significant change in visual acuity in patients receiving carbonic anhydrase inhibitors. Five patients with MacTel Type 2 did not receive treatment and demonstrated no change in visual acuity, cystoid cavities, or central macular thickness.

CONCLUSION: Oral carbonic anhydrase inhibitors, particularly acetazolamide, may decrease macular cystic cavities and reduce central macular thickness but does not appear to improve visual acuity. These findings have yet to be confirmed with a prospective treatment trial.

}, keywords = {Acetazolamide, Administration, Oral, Adult, Aged, Carbonic Anhydrase Inhibitors, Female, Fluorescein Angiography, Humans, Male, Methazolamide, Middle Aged, Organ Size, Retina, Retinal Telangiectasis, Retrospective Studies, Tomography, Optical Coherence, Visual Acuity}, issn = {1539-2864}, doi = {10.1097/IAE.0000000000000093}, author = {Chen, John J and Sohn, Elliott H and Folk, James C and Mahajan, Vinit B and Kay, Christine N and Boldt, H Culver and Russell, Stephen R} } @article {775, title = {Infrared imaging and optical coherence tomography reveal early-stage astrocytic hamartomas not detectable by fundoscopy.}, journal = {Am J Ophthalmol}, volume = {153}, year = {2012}, month = {2012 May}, pages = {883-889.e2}, abstract = {

PURPOSE: To describe and correlate the features of astrocytic hamartomas using multimodal imaging.

DESIGN: Prospective, noncomparative, observational case series.

METHODS: This was a single-center study of 4 patients (8 eyes) with tuberous sclerosis complex. A complete ophthalmologic examination, fundus photography, fundus autofluorescence (FAF), infrared imaging, and spectral-domain optical coherence tomography (SD-OCT) were performed for each patient. Images from each modality were analyzed and compared.

RESULTS: In 2 patients, infrared imaging and SD-OCT detected occult retinal astrocytic hamartomas that were not observed on clinical examination or color fundus photography. FAF demonstrated the greatest contrast between lesions and surrounding retina but failed to identify 1 occult lesion that was detected with infrared imaging and SD-OCT. SD-OCT revealed lesions arising from the retinal nerve fiber layer with overlying vitreous adhesions, hyperreflective dots, and optically empty spaces at all depths of the tumor. Hamartomas were hyporeflective on infrared imaging and hypoautofluorescent on FAF. FAF of some lesions demonstrated hyperautofluorescent spots.

CONCLUSIONS: Infrared imaging and SD-OCT aid in the detection of astrocytic hamartomas that are not visible on clinical examination or color fundus photography. SD-OCT enhances visualization of structural details. FAF is a useful adjunctive test to obtain greater contrast between lesions and surrounding retina. The ability to monitor structural changes over time in astrocytic hamartomas using SD-OCT may be beneficial for monitoring the success of systemic chemotherapy in the treatment of various tuberous sclerosis tumors.

}, keywords = {Adolescent, Astrocytes, Child, Diagnostic Imaging, Female, Fluorescein Angiography, Humans, Infrared Rays, Male, Ophthalmoscopes, Prospective Studies, Retinal Neoplasms, Tomography, Optical Coherence, Tuberous Sclerosis}, issn = {1879-1891}, doi = {10.1016/j.ajo.2011.10.033}, author = {Xu, Luna and Burke, Tomas R and Greenberg, Jonathan P and Mahajan, Vinit B and Tsang, Stephen H} } @article {765, title = {Intravitreal bevacizumab for peripapillary choroidal neovascular membranes.}, journal = {Arch Ophthalmol}, volume = {130}, year = {2012}, month = {2012 Aug}, pages = {1073-5}, keywords = {Adult, Aged, Aged, 80 and over, Angiogenesis Inhibitors, Antibodies, Monoclonal, Humanized, Bevacizumab, Choroidal Neovascularization, Female, Fluorescein Angiography, Humans, Intravitreal Injections, Macular Degeneration, Male, Middle Aged, Retreatment, Subretinal Fluid, Tomography, Optical Coherence, Treatment Outcome, Vascular Endothelial Growth Factor A, Visual Acuity}, issn = {1538-3601}, doi = {10.1001/archophthalmol.2012.465}, author = {Davis, Andrew S and Folk, James C and Russell, Stephen R and Sohn, Elliott H and Sohn, Elliot H and Boldt, H Culver and Stone, Edwin M and Mahajan, Vinit B} } @article {173, title = {A new macular dystrophy with anomalous vascular development, pigment spots, cystic spaces, and neovascularization.}, journal = {Archives of ophthalmology}, volume = {127}, year = {2009}, month = {2009 Nov}, pages = {1449-57}, abstract = {

To clinically phenotype an inherited macular dystrophy with peculiar intraretinal pigment spots, cysts, and hemorrhage in a 24-year-old female proband and her family.

}, keywords = {Adolescent, Adult, Amblyopia, Child, Child, Preschool, Cysts, Electroretinography, Female, Fluorescein Angiography, Humans, Macular Degeneration, Male, Middle Aged, Pedigree, Phenotype, Retinal Hemorrhage, Retinal Neovascularization, Retinal Pigment Epithelium, Retinal Vessels, Strabismus, Tomography, Optical Coherence, Visual Acuity, Young Adult}, author = {Mahajan, Vinit B and Russell, Stephen R and Stone, Edwin M} }