The eye
Angus Clarke, Alex Murray, Julian Sampson in Harper's Practical Genetic Counselling, 2019
The study of inherited eye disorders formed a major part of early work on the Mendelian basis of genetic disease, largely because their non-lethal nature led to large families with clear inheritance patterns, but also because many generalised genetic disorders have ocular manifestations important in diagnosis. A remarkable number of X-linked disorders affecting the eye are known, and these are listed separately, because they produce special problems in genetic counselling. A great variety of types exist, characterised by particular features of fundal appearance, differences in severity and progression, and different responses to various types of electrodiagnostic investigation. The macular dystrophies are a heterogeneous group, selectively involving central vision in contrast to the early peripheral involvement in retinitis pigmentosa. Retinal detachment is commonly associated with severe myopia, and a significant risk to relatives is only likely when th.
Pars plana vitrectomy for diabetic macular edema associated with posterior hyaloidal traction
A Peyman MD Gholam, A Meffert MD Stephen, D Conway MD FACS Mandi, Chiasson Trisha in Vitreoretinal Surgical Techniques, 2019
The role of vitreous traction in producing macular edema has been demonstrated in cystoid macular edema resulting from peripheral uveitis, retinitis pigmentosa, and aphakia. Vitreous traction has also been shown to play a role in diabetic macular edema. This chapter focuses on the surgical management of diabetic macular edema associated with posterior hyaloidal traction. Postoperative complications include vitreous hemorrhage, rhegmatogenous retinal detachment, epiretinal membranes, and cataracts. If epiretinal membranes or cataracts cause significant visual impairment, additional surgery can be considered to improve the visual outcome. The choice of anesthesia for this surgery is based on several factors, including the patient’s renal and cardiac status, their preference, and the anesthesiologist’s skill. The surgical technique begins with a limited, posterior vitrectomy using standard three-port pars plana vitrectomy techniques, including a separate infusion cannula, fiberoptic endoilluminator, and automated vitrectomy probe.
Miscellaneous conditions
Thomas H. Williamson in Vitreoretinal Disorders in Primary Care, 2017
Symptomatic vitreous floaters are common over the age of 30 years but are mostly ignored by the individual. Some have considerable debris in the vitreous either from pathology or from general degeneration. Patients with multifocal lens implants may find vitreous opacities more problematic. The most frequent severe developmental anomaly in the vitreous is persistent hyperplastic primary vitreous. Retinal angioma can occur as a solitary lesion not associated with systemic disease or as multiple lesions in von Hipple–Lindau disease (VHL). Idiopathic cases present later, with mean age at presentation of 36 years, than in VHL. Marfan's syndrome is a connective tissue disorder which affects the skeleton, lungs, eyes, heart and blood vessels. Patients with subarachnoid haemorrhage from intracranial aneurysms may develop vitreous bleeds. Histopathology has shown haemorrhage in the vitreous, subhyloid, sub-internal limiting membrane (ILM), intraretinal and in the optic nerve and the optic nerve sheath. Retinal electrodes are being designed and trailed in patients with retinitis pigmentosa.
Dopamine dilemma: case report of treating psychosis in patient with retinitis pigmentosa
Published in Psychiatry and Clinical Psychopharmacology, 2019
Haitham Salem, Stephanie Klassen, Rania Elkhatib, Teresa Pigott
Retinitis Pigmentosa is a rare inherited degenerative eye disease affecting the retinal pigment epithelium (RPE), in which mutation of rhodopsin leads to severe visual impairment, and legal blindness. The D4 receptors are abundant within the rods of the retina and dopamine release is the primary feedback mechanism preventing retinal degeneration by the unopposed action of melatonin. Here, we present a 50-year-old female patient with schizophrenia and retinitis pigmentosa who was admitted to an inpatient unit for an acute psychotic exacerbation with agitation and persecutory delusions. Patient initially was administered IM haloperidol since she refused oral form, but she eventually was compliant to oral Haloperidol with eventual reduction in daily dose to 5mg/d with treatment response and good tolerability including no change in visual acuity. The treatment of psychosis in patients with retinitis pigmentosa is challenging and requires consideration of the potential D4 receptor effects associated with an antipsychotic medication to prevent further retinal damage.
Unilateral Macular Star in a Case of Hypertension and Retinitis Pigmentosa
Published in Seminars in Ophthalmology, 2017
Rohan Chawla, Koushik Tripathy, Sunil Chaudhary, Swati Phuljhele, Pradeep Venkatesh
Purpose: To describe a case of hypertension and retinitis pigmentosa presenting with a unilateral macular star. Methods: Case report. Results: A 17-year-old female with chronic kidney disease and hypertension presented with a mild blurring of vision in the left eye. There was a history of night blindness. Both eyes had optic disc pallor, arteriolar attenuation, and peripheral bony spicules suggestive of the triad of retinitis pigmentosa. Macular star was seen in the left eye alone. We ascribe the macular star to hypertension as the patient had only a mild decrease in vision, no relative afferent pupillary defect, and similar visual evoked response amplitude and latency in both eyes. Conclusion: Unilateral macular star may be seen in hypertension and may simulate neuroretinitis in the clinical setting.
RPGR and RP2: targets for the treatment of X-linked retinitis pigmentosa?
Published in Expert Opinion on Therapeutic Targets, 2009
Stefan Veltel, Alfred Wittinghofer
Retinitis pigmentosa is the most important hereditary eye disease and there is currently no cure available. Although mutations were found in more than 40 genes in patients with retinitis pigmentosa, only two genes have thus far been found to be responsible for one of the most severe forms of the disease, X-linked retinitis pigmentosa. In this review, we highlight the current knowledge about the two gene products RPGR and RP2 and try to link genetic data from patients with functional data on the corresponding proteins. Based on the fact that recent gene therapeutic approaches for eye diseases are at a very promising stage, we discuss the potential of RPGR and RP2 as drug targets to treat retinitis pigmentosa.
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