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An Approach to Visual Loss in a Child
Published in Vivek Lal, A Clinical Approach to Neuro-Ophthalmic Disorders, 2023
Muhammad Hassaan Ali, Stacy L. Pineles
Examination of the posterior segment of the eye should be performed after adequate pupillary dilatation. Tropicamide, phenylephrine, cyclopentolate, and atropine drops can be used to dilate the pupils depending upon the color and pigmentation of the iris. Fundus examination is essential to rule out any underlying cause of vision loss including life-threatening conditions like retinoblastoma. The examination can be made relatively easy if the parents are asked to hold and simultaneously feed the baby. Young infants can be examined by wrapping them in a sheet and getting an assistant hold the head of the baby steady. Parents should be counseled that the examination is not painful so they need not worry if the child cries during the examination. Fundus examination if usually performed using 28D or 30D lenses with indirect ophthalmoscope. If any lesion is found on the optic nerve head or macula, a magnified view can be obtained using direct ophthalmoscope. While examining the fundus always comment on the status of the optic disc, macula, periphery and retinal vasculature. Optic disc pit, foveal hypoplasia, macular scarring, abnormal macular pigmentation, bone spicule pigmentation, arteriolar attenuation and optic disc pallor can be seen in various pathologies which produce visual loss in children.
Ophthalmic Injuries
Published in Ian Greaves, Keith Porter, Jeff Garner, Trauma Care Manual, 2021
Ian Greaves, Keith Porter, Jeff Garner
The fundus should be examined with an ophthalmoscope. Blunt trauma can cause: Vitreous haemorrhage and a hazy/absent fundus viewRetinal pallor and haemorrhages (commotio and sclopetaria retinae)Retinal tears, detachment and dialysis (detachment occurs on average 2 weeks post-trauma).11 If it is impossible to examine the eye as a result of severe periorbital swelling, specialist advice should be sought from an ophthalmologist.
Pathological Processes of the Eye Related to Chemical Exposure
Published in David W. Hobson, Dermal and Ocular Toxicology, 2020
In properly examining the eyes of any animal species clinically, the observer must separately evaluate the ocular fundus and the anterior segment and adnexa. The ocular fundus refers to that portion of the eye extending posteriorly from the anterior edge of the retina; including the retinal vasculature, the choroid, the optic nerve, and in some instances, the sclera.1 The anterior segment includes the iris, the lens, the anterior chamber, and the cornea. The adnexa refers to the eyelids and lacrimal apparatus and the conjunctivae (palpebral and bulbar).2 Examination of these structures requires the use of appropriate instrumentation and, when indicated, mydriatics or staining agents.
Seroreactivity against retinal proteins in a case of POC1B gene associated cone dystrophy with normal funduscopic appearance: a systematic approach to diagnosis
Published in Ophthalmic Genetics, 2023
Özge Yanık, Figen Batıoğlu, Yavuz Sahin, Sibel Demirel, Emin Özmert
Unexplained visual loss in the presence of normal fundus findings is one of the challenging diagnostic situations in ophthalmology. Many retinal diseases such as acute zonal outer retinopathy, autoimmune retinopathies, and some hereditary retinal dystrophies may cause normal fundus appearance with gradually decreased vision. Differential diagnosis between hereditary retinal dystrophies and inflammatory/autoimmune diseases is difficult in several cases. Retinal degeneration may initiate an inflammatory cascade and an immune response and vice versa (1). In these cases, a step-by-step approach including a detailed patient history, followed by the other functional, anatomical, and electrophysiological tests, is the most appropriate diagnostic route to provide definitive diagnosis without delay and preventing unnecessary treatments and interventions.
Ocular Manifestations of Neuronal Ceroid Lipofuscinoses
Published in Seminars in Ophthalmology, 2021
Rohan Bir Singh, Prakash Gupta, Akash Kartik, Naba Farooqui, Sachi Singhal, Sukhman Shergill, Kanwar Partap Singh, Aniruddha Agarwal
Mutations in the CLN6 gene coding for a transmembrane ER protein of unknown significance causes CLN-6 disease [earlier known as autosomal recessive, variant-late infantile neuronal ceroid lipofuscinosis (vLINCL)].111 CLN-6 protein is highly expressed in bipolar cells and photoreceptors, and the mutations in the gene leads to production of truncated non-function protein, resulting in degeneration of these cells during different phases of the disease.112 The age of disease onset is highly variable, ranging from 18 months to 8 years, and leads to death in the affected individuals by mid-20s. The clinical presentation includes cognitive and motor regression, progressive cerebellar, pyramidal, and extrapyramidal signs and seizures. It presents with visual failure leading to blindness, with many showing consistently normal fundus findings.106,113 Additionally, CLN6 mutations are known to cause the autosomal recessive variants of Kufs disease, as mentioned previously. The skin biopsy shows cytoplasmic vacuoles containing mixed curvilinear profiles and fingerprint profiles. However, if skin biopsy is negative for storage material, deep rectal or brain biopsies can be considered, especially in adult patients. Neuroimaging shows deep cortical layer-specific neuron loss; and cerebellar atrophy.100 An ongoing clinical trial is assessing the long-term efficacy of AAV based working gene transfer therapy as performed for the treatment CLN-3.114
Fungal Endogenous Endophthalmitis during Pregnancy as a Complication of In-Vitro Fertilization
Published in Ocular Immunology and Inflammation, 2021
Murat Hasanreisoglu, Sarakshi Mahajan, Huseyin Baran Ozdemir, Pinar Cakar Ozdal, M. Sohail Halim, Muhammad Hassan, Quan Dong Nguyen
A 21-year-old, 10-week pregnant female presented with loss of vision in the right eye in the last 1.5 months. The patient gave a history of several attempts of in-vitro fertilization (IVF) prior to pregnancy. The last IVF intervention was performed as IVF and intracytoplasmic sperm injection, which includes follicular development with GnRH antagonist protocol, oocyte retrieval, sperm insemination, and embryo transfer. She was treated elsewhere for her presumed noninfectious retinitis and panuveitis with oral prednisolone corticosteroids and subtenon triamcinolone a month ago. She referred to our uveitis clinic due to an inadequate response to treatment. Her previous fundus photos taken at the time of initial presentation elsewhere showed a white retinal infiltrate at inferior maculo-papillary bundle inside the vascular arcades located between foveola and optic disc. Optic disc hyperemia and edema and 1+ vitritis were also evident at the fundus photography (Figure 1A). At that time, best-corrected visual acuity (BCVA) was 20/80 in right and 20/20 in the left eye. The left eye appeared to be normal (Figure 1B).