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Clinical Examination in Neuro-Ophthalmology
Published in Vivek Lal, A Clinical Approach to Neuro-Ophthalmic Disorders, 2023
Selvakumar Ambika, Krishnakumar Padmalakshmi
Interpretation of visual fields should go hand in hand with clinical findings. Disease of the retina may produce focal defects or scotomas. Macular lesions produce central scotomas and branch retinal artery occlusion can cause focal field defects. Constricted visual fields not involving fixation are seen in retinitis pigmentosa. Central visual field defects in the absence of a macular lesion are typical, although not exclusively seen in optic nerve lesions. Altitudinal defects can be seen in optic neuritis and ischemic optic neuropathies. Toxic, nutritional and hereditary optic neuropathies produce central/paracentral defects. Lesions of chiasm cause bitemporal hemianopic defect due to the crossing over of nasal retinal fibers at the chiasm. Homonymous hemianopia is produced in retrochiasmal lesions (Figure 1.19). Thus, the vertical meridian separating the nasal and temporal hemifield has crucial importance in lesions of the chiasm, optic radiation and visual cortex. Table 1.8 describes visual field defects and its differential diagnosis.
Clinical Perspectives on Gene Therapy for Retinal and Eye Diseases
Published in Yashwant Pathak, Gene Delivery, 2022
Devika S. Joshi, Gaurav M. Karve, Shrikant D. Joshi
Retinitis pigmentosa, also known as hereditary retinal dystrophy is a group of retinal disorders causing progressive loss of vision due to pigmentary changes in the retinal pigment epithelial layer. It exists in syndromic (occurring in association with systemic disorders, e.g., Usher’s syndrome) and non-syndromic forms. Historically, it has been an untreatable disease, but newer scientific advances like gene therapy, retinal implants, etc., have allowed good improvement in vision.
Retinitis Pigmentosa
Published in K. Gupta, P. Carmichael, A. Zumla, 100 Short Cases for the MRCP, 2020
K. Gupta, P. Carmichael, A. Zumla
The clinical features of retinitis pigmentosa may vary but night blindness and constriction of visual fields usually occur. Rods are more affected than cones. The age of onset, inheritance pattern, and progress of disease may all vary. The condition is inherited as an autosomal recessive trait (ask for a family history) in approximately 40% of cases, autosomal dominant in 20% and sex-linked recessive in approximately 5% of cases. Between 30-40% of patients may have no family history and the mutation may be spontaneous. Fundoscopic examination reveals narrowed retinal arterioles and bone spicule appearance and areas of small irregular pigment clumps.
Oliver McFarlane syndrome: two new cases and a review of the literature
Published in Ophthalmic Genetics, 2021
Kristian Lisbjerg, Mette K. G. Andersen, Mette Bertelsen, Agnes G. Brost, Frederik F. Buchvald, Rikke B. Jensen, Anne-Marie Bisgaard, Thomas Rosenberg, Zeynep Tümer, Line Kessel
Parents noticed visual difficulties from the age of two. At the age of three years, the patient underwent an ophthalmological examination at which point poor visual acuity equivalent to 20/200 (binocular) and a pale fundus with peripheral pigmentations was noted. The signs of severe chorioretinal degeneration were confirmed with ff-ERG that showed extinguished dark-adapted single flash and only a slight residual flicker response indicating absent rod function and very limited cone function. Complete night blindness was reported. The diagnosis at this point was early-onset retinitis pigmentosa. Fundoscopic findings were described as choroideremia-like. Due to dysmorphic features (Figure 1), growth retardation, and retinal degeneration a syndrome was suspected, and in the following years several clinical investigations were performed in the pursuit of a more exact diagnose. Chromosome analysis showed a normal female karyotype, 46,XX. The hair was examined for suspected Menkes disease or trichothiodystrophy but with no conclusive findings. At the age of three, thyroidal parameters were normal and clonidine stimulation of growth hormone (GH) also showed a normal result. Growth retardation persisted and by the age of 10, treatment with GH was initiated and she ended up with an adult height of 158 cm.
Nerve Growth Factor as an Ocular Therapy: Applications, Challenges, and Future Directions
Published in Seminars in Ophthalmology, 2021
Clinically, NGF has not yet been extensively studied for retinal disease. In one case report, an elderly patient with advanced non-neovascular age-related macular degeneration had improvement in visual acuity and electroretinogram amplitude after one month of topical administration of 200 µg/mL NGF, with further improvement after 3 months of treatment.72 This improvement was not robust, as acuity and ERG parameters worsened upon discontinuation. However, the testing parameters again improved after NGF was restarted. A pilot, non-controlled study has also been performed in patients with retinitis pigmentosa.73 In this study, patients received 10 days of topical NGF, which was generally well tolerated. The results suggested a possible improvement in functional ERG and visual field testing in the study patients. However, larger, controlled, and masked trials have yet to be completed.
Novel compound heterozygous pathogenic BBS5 variants in Filipino siblings with Bardet-Biedl syndrome (BBS)
Published in Ophthalmic Genetics, 2020
Aramis B. Torrefranca, Alvina Pauline D. Santiago, Michelle D. Lingao, Marie Julianne C. Racoma
BBS is a chronic disease without any specific treatment. Multidisciplinary approach to management is required. Treatment is mainly symptomatic. Our patients were screened for amblyopia and strabismus, and managed with spectacles for best vision. Annual ophthalmologic evaluation was recommended, specifically for monitoring of retinitis pigmentosa by retina specialists, and provision of low vision aids such as magnifying glasses and mobility training by low vision and rehabilitation specialists. At least yearly monitoring of renal function tests and surveillance for metabolic syndrome by pediatric nephrologists and endocrinologists formed part of their holistic management. Parents and family require proper counseling with advice encompassing the life-threatening systemic complications of the syndrome.