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Hereditary and Metabolic Diseases of the Central Nervous System in Adults
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Eye findings: Focal dilation of retinal arteries.Corneal opacities – curved or straight lines radiating out from the center of the cornea (cornea verticillata), best seen with a slit lamp.
Fabry disease
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
Ocular lesions [22] regularly include dilated tortuous venules of the conjunctivae (Figure 87.5). Similar dilatation may be seen in the vessel of the retinas. Corneal opacities develop in males and in some heterozygous females. The diagnosis can be made by slit lamp examination, in which the typical cream-colored interior, whorl-like opacities are visualized. Corneal opacities have been seen as early as six months of age [23]. Cataracts of the posterior capsule of the lens are pathognomonic [22]. The ocular lesions result from the deposition of glycosphingolipid and do not usually impair vision. As the disease progresses, the retinal changes of uremia may be found. Visual loss has been observed following central retinal artery occlusion [24]. Some patients display edema of the eyelids, in the absence of renal disease [22, 23]. The ocular manifestations of disease, especially cornea verticillata correlated with severe disease in pediatric patients [25]. Neurosensory hearing loss may develop [18].
Metabolic Diseases
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Stephanie Grünewald, Alex Broomfield, Callum Wilson
Fabry disease is a multi-system disease that is extremely heterogeneous. Presentations include painful burning extremities in late childhood that are typically exacerbated by exercise or extremes of temperature. Gastrointestinal complaints, e.g. diarrhoea and abdominal pain, as well as signs of vestibular dysfunction and tinnitus are also common. Presentation with severe renal impairment, heart failure, stroke and/or psychiatric disease in adulthood is also well recognised and make up the classical, severe, life-threatening pathology of the disease. Many patients are asymptomatic with the diagnosis following family screening. Physical findings include angiokeratoma and cornea verticillata on slit-lamp examination.
Emerging drugs for the treatment of glaucoma: a review of phase II & III trials
Published in Expert Opinion on Emerging Drugs, 2022
Tyler M. Kaplan, Arthur J. Sit
Rho kinase inhibitors are a recently developed class of compounds including netarsudil and ripasudil, which inhibit rho-associated, coiled-coil-containing protein kinases 1 and 2 (ROCK1 and ROCK2) [73]. They inhibit serine and threonine protein kinases leading to modulation of the cytoskeleton of the trabecular meshwork. Human studies on netarsudil have demonstrated an increase in trabecular outflow facility, with a secondary mechanism of action involving the reduction of episcleral venous pressure (EVP) [74,75]. Netarsudil once daily had similar efficacy as timolol twice-daily in pooled study results [76]. While systemic side-effects are rare, local side-effects are common, with the most common being conjunctival hyperemia occurring in 50–60% of patients [77]. Additional side effects include conjunctival hemorrhage and corneal verticillata, which occur in nearly 15–20% of patients. The cornea verticillata is thought to be due to accumulation of phospholipids in lysosomes of corneal epithelial cells and resolves after discontinuation of the medication. There are also case reports of honeycomb epithelial edema associated with rho kinase inhibitors, which generally improves after discontinuation of the medication [107]41.
Netarsudil and latanoprost ophthalmic solution for the reduction of intraocular pressure in open-angle glaucoma or ocular hypertension
Published in Expert Review of Clinical Pharmacology, 2019
Ahmad A. Aref, Lawrence S. Geyman, Abdel-Rahman Zakieh, Humoud M. Alotaibi
Two other commonly reported ocular AEs were conjunctival hemorrhage and cornea verticillata. Conjunctival hemorrhage was reported as mild in all subjects and was present in 10.5% of subjects receiving FDC netarsudil/latanoprost, 13.9% receiving netarsudil, and 0.4% receiving latanoprost. Two patients in the netarsudil group discontinued treatment due to conjunctival hemorrhage. Cornea verticillata was reported as mild in all but one subject (who received netarsudil and in whom it was reported as moderate) and was identified in 5.0% of subjects administered FDC netarsudil/latanoprost, 4.1% administered netarsudil, and none administered latanoprost. All cases of cornea verticillata were asymptomatic and did not impact visual acuity (Table 1). Additional ocular AEs with >5% incidence included instillation site pain, eye pruritus, and increased lacrimation.
Rhythmic changes in Fabry disease: Inversion and non-oscillatory pattern in 6-sulfatoxymelatonin daily profile
Published in Chronobiology International, 2019
Julia Ribeiro da Silva Vallim, Fernanda Gaspar do Amaral, José Cipolla-Neto, Vânia D’Almeida
Patients can be classified into two phenotypes known as classic and nonclassic variants. The classification is based on type of mutation, level of enzymatic activity, and age of symptoms onset (Arends et al. 2017; Mehta and Widmer 2006). Classic symptomatology manifests in the first two decades of life and includes angiokeratomas, acroparesthesia, sweat gland infiltrations, and cornea verticillate (Lidove et al. 2006). Cornea verticillata is an ocular lesion, characterized by an opacity that radiates from center to periphery of the cornea (Fleischer 1910; Mehta and Widmer 2006; Sodi et al. 2007, 2006). On next decades of life, patients manifest cardiac and renal symptoms, the main causes of their premature deaths (Mehta et al. 2009; Mehta and Widmer 2006). Nonclassic form usually develops on adulthood and the symptoms are restricted to heart and kidneys, also known as cardiac and renal variants of the disease (Mehta and Widmer 2006; Nakao et al. 2003, 1995).