1,721,001 research outputs found
Research Advances in Age-Related Macular Degeneration
Full text linkThe first descriptions of the condition now known as age-related macular degeneration (AMD) appeared in 1852; however, it is only since the 1970s that our knowledge on AMD has substantially increased [...].The first descriptions of the condition now known as age-related macular degeneration (AMD) appeared in 1852; however, it is only since the 1970s that our knowledge on AMD has substantially increased [...]
Optic nerve aplasia associated with macular atypical coloboma
No full textA 12-year-old patient presenting with absence of the optic disc and retinal blood vessels associated with atrophic macular lesion was studied. A toxoplasma IgG antibody test had been found positive at the age of 4 months. This test and the clinical findings suggested the possibility of optic nerve aplasia with atypical macular coloboma due to congenital toxoplasmosis. The pro's and contra's concerning this hypothesis are discussed by the authors
Optical coherence tomography evidence on the correlation of choroidal thickness and age with vascularized retinal layers in normal eyes
No full textPurpose: To correlate choroidal thickness (CT) and age with vascularized retinal layer and outer retinal layer thickness in normal eyes. Methods: This was a prospective, cross-sectional study. Complete ophthalmological examination, biometry, and enhanced depth imaging spectral domain optical coherence tomography were performed. Choroidal and individual retinal layer thickness measurements were obtained. Thickness maps for all layers were evaluated using the 1 mm, 3 mm, and 6 mm early treatment diabetic retinopathy study (ETDRS) macular grid areas. Results: One hundred and twenty eyes were included. Choroidal thickness correlated negatively with age in all ETDRS areas. The ganglion cell layer (GCL) in the 1 mm; the GCL and inner plexiform layer (IPL) in the 3 mm and 6 mm; and the GCL, IPL, and inner nuclear layer in the 6 mm areas correlated negatively with age and positively with CT. Retinal nerve fiber layer thickness in the 6 mm area correlated negatively with age. The retinal pigment epithelium-photoreceptor layer in all areas correlated negatively with age and positively with CT. Conclusion: In normal subjects, vascularized retinal layer thicknesses and outer retinal layer thickness correlate positively with CT and negatively with age. The role of neuronal versus vascular components should be considered when evaluating individual retinal layer thicknesses
Ocular manifestations in phakomatosis pigmentovascularis. current concepts on pathogenesis, diagnosis, and management
No full textPhakomatosis pigmentovascularis is a rare congenital multisystemic disease with variable manifestations where a vascular malformation of the skin is associated with a pigmentary nevus. Ocular involvement includes glaucoma, choroidal hemangioma, and pigmentary alterations that predispose to uveal melanoma. Diagnosis is made on clinical grounds, although recent advances in molecular genetics have better clarified the etiopathogenesis of the condition. The advent of improved imaging techniques such as enhanced depth imaging spectral domain optical coherence tomography has provided new insight into the ocular alterations, enabling better follow-up of patients. We review the ophthalmic manifestations of the disease with an update on etiopathogenesis and current management strategies
Optical coherence tomography evidence of macular ganglion cell-inner plexiform layer thinning in eyes with subretinal drusenoid deposits
No full textBackground/Objectives: The purpose of this study was to evaluate macular ganglion cell layer-inner plexiform layer (GCL-IPL) and choroidal thickness in early age-related macular degeneration (AMD) in eyes with subretinal drusenoid deposits (SDD). Subjects/Methods: Comprehensive ophthalmological examination was performed. Near infrared reflectance and raster images using enhanced depth imaging were acquired with spectral domain optical coherence tomography. Drusen and SDD were diagnosed based on raster scans and near infrared reflectance. GCL-IPL maps were generated with automated segmentation and choroidal thickness maps were obtained by manually delineating the choroid-scleral boundary. Results: Forty-eight eyes from 48 patients (mean age 77.5 ± 5.7, range 68–90 years) with a diagnosis of early AMD and 42 eyes of 42 age-matched control subjects (mean age 76.9 ± 5.7, range 67–88 years) were included. Of these, 28 eyes (58.3%) had drusen alone, 4 eyes (8.3%) had SDD alone, and 16 eyes (33.3%) had drusen associated with SDD. Compared with controls, average choroidal thickness was significantly decreased in AMD eyes (P < 0.05). There was no significant difference in choroidal thickness in eyes with SDD with respect to those with drusen alone. GCL-IPL thickness was reduced in an annular pattern at the 3 and 6 mm macular areas in AMD patients with respect to controls (P < 0.05). GCL-IPL thickness at 3 mm was significantly reduced in eyes with SDD with respect to those with drusen alone (P = 0.03). Conclusions: The GCL-IPL is reduced in thickness with an annular pattern in early AMD and is significantly thinner in eyes with SDD
An androgen receptor-positive carcinoma of the lacrimal drainage system resembling salivary duct carcinoma: case report and review of the literature
No full textCarcinomas of the lacrimal drainage apparatus are rare and due to their aggressive behavior, they usually require extensive
surgical treatment. We report a unique case of a 60-year-old man presenting with proptosis found to have a mass in the lacrimal
drainage system on magnetic resonance imaging. Histology revealed a high-grade carcinoma with morphologic features of
salivary gland duct carcinoma. Immunohistochemistry showed an extensive positive staining to androgen receptor. This is the first
report of salivary gland–like duct carcinoma of the lacrimal drainage apparatus. Androgen receptor should be included in the
immunohistochemical panel for the diagnostic work-up of lacrimal drainage system carcinomas, which resemble salivary gland
duct carcinoma. This finding could have important diagnostic and therapeutic implications
Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management
Full text linkNoteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of sporadic cases. Childhood glaucoma is classified in primary and secondary congenital glaucoma, further divided as glaucoma arising in dysgenesis associated with neural crest anomalies, phakomatoses, metabolic disorders, mitotic diseases, congenital disorders, and acquired conditions. Neural crest alterations lead to the wide spectrum of iridocorneal trabeculodysgenesis. Systemic diseases associated with childhood glaucoma include the heterogenous group of phakomatoses where glaucoma is frequently encountered in the Sturge-Weber syndrome and its variants, in phakomatosis pigmentovascularis associated with oculodermal melanocytosis, and more rarely in neurofibromatosis type 1. Childhood glaucoma is also described in systemic disorders of mitotic and metabolic activity. Acquired secondary glaucoma has been associated with uveitis, trauma, drugs, and neoplastic diseases. A database research revealed reports of childhood glaucoma in rare diseases, which do not include glaucoma in their manifestation. These are otopalatodigital syndrome, complete androgen insensitivity, pseudotrisomy 13, Brachmann-de Lange syndrome, acrofrontofacionasal dysostosis, caudal regression syndrome, and Wolf-Hirschhorn syndrome
Ocular alterations in a rare case of segmental neurofibromatosis type 1 with a non-classified mutational variant of the NF-1 gene
No full textBACKGROUND:
Neurofibromatosis type 1 (NF-1) is an autsomal dominant disorder which can occasionally result from somatic mosaicism and manifest as segmental forms of the disease.
METHODS:
A 37-year-old woman with ascertained NF-1, based on clinical diagnostic criteria and genetic analysis, was referred for ophthalmological evaluation. Genetic analysis, magnetic resonance imaging (MRI), complete ophthalmological examination, and near infrared reflectance (NIR) images at 815 nm of the retina were obtained.
RESULTS:
Genetic analysis revealed a non-classified mutational variant of the NF-1 gene identified as NM_000267.3:c2084T > C (p.Leu695Pro.T). MRI demonstrated non-symptomatic bilateral optic nerve gliomas. The only cutaneous sign was a subcutaneous neurofibroma of the posterior cervical region. Slit-lamp examination showed bilateral Lisch nodules. NIR images of the retina did not show any choroidal hamartomas.
DISCUSSION:
We report a rare case of segmental neurofibromatosis with a non-classified mutational variant of the NF-1 gene described in only one previous case in the literature. The patient presented with clinical features of NF-1 localized to the head and neck region, compatible with diagnosis of segmental NF-1. Interestingly, ocular manifestations included bilateral optic nerve gliomas and Lisch nodules, but no choroidal hamartomas.
KEYWORDS:
Lisch nodules; mosaicism; neurofibromatosis type 1 gene; segmental neurofibromatosi
Accidental intralenticular dexamethasone intravitreal implant with the resolution of macular oedema in central retinal vein occlusion
Full text linkNo abstract availabl
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