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Galactosialidosis
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
Neurologic features include generalized seizures and myoclonus, ataxia, and impaired mental development. Deterioration may be progressive. Deep tendon reflexes are brisk [26]. Bilateral cherry red spots are found in most patients (Figure 97.7). There may be corneal clouding, punctate lenticular opacities, and loss of visual acuity. Other patients have no neurologic abnormalities.
Histiocytosis and Lipid Storage Diseases
Published in Harold R. Schumacher, William A. Rock, Sanford A. Stass, Handbook of Hematologic Pathology, 2019
Salwa Shabbir Sheikh, David F. Garvin
In type la, symptoms usually develop within 6 months, with death occurring by 2–3 years of life; 50% have “cherry red spots.” A cherry red spot represents accentuation of the normal color of macular choroid contrasted with the pallor produced by the swollen ganglion cells in the remainder of the retina.
Metabolic Diseases
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Stephanie Grünewald, Alex Broomfield, Callum Wilson
The sphingolipidosis disorders refer to a group of lysosomal storage disorders that in their classical form are notable for progressive and relentless neurological decline with relatively few other organ manifestations. In the severe forms of the conditions, onset is in infancy and is rapidly progressive over months leading to severe encephalopathy and death. These children usually have, albeit sometimes brief, a period of normal development followed by a plateauing of developmental progress and then actual regression. This may be exacerbated by intercurrent illness. Features such as epilepsy, macrocephaly, hyperacusis, visual impairment and spasticity are seen. The degree of irritability especially in Krabbe is extremely distressing to the family. There are no skeletal manifestations, usually minimal hepatomegaly (except in Niemann-Pick disease) and unlike in MPS disorders, coarse facial features are not seen. Retinal cherry red spots can sometimes be observed and loss of vision is common. The late infantile onset metachromatic leukodystrophy (MLD) has a very classical presentation whereby the previously near normal development plateaus at between 12 months to 2 years with subsequent aggressive regression and loss of any skills.
Heterozygous structural variation mimicking homozygous missense mutations in NEU1 associated with presenting clinical signs in eyes alone
Published in Ophthalmic Genetics, 2020
At present, cherry-red spots have been described in eleven diseases where mutations in nine genes have been reported to be responsible for nine autosomal recessive diseases (Table 1), including sialidosis caused by NEU1 mutations. Sialidosis due to NEU1 mutations is characterized by myoclonus (100%), ataxia (87.8%), seizure (73.7%), and cherry-red spots of the maculae (51.2%) (10). This disease can be subdivided based on the severity of the clinical manifestations and the age of onset. The prevalence of sialidosis is approximately 1:2,200,000 in live births (11). Sialidosis type I, also known as cherry-red spot-myoclonus syndrome, is a late-onset and milder type with progressive myoclonic epilepsy, visual impairment and ataxia in adolescence. Sialidosis type II has an earlier onset and with a more severe phenotype that can include hepatomegaly, coarse facial features, intellectual disability, and dysostosis multiplex. Among patients with cherry-red spots due to NEU1 mutations, 89% of patients were classified as sialidosis type I while 11% were classified as sialidosis type II. However, isolated ocular signs as the presenting manifestation are rare, although a cherry-red spot is common in patients with sialidosis (4,12,13).
Ocular Involvement in Systemic Lupus Erythematosus: The Experience of Two Tertiary Referral Centers
Published in Ocular Immunology and Inflammation, 2018
Rosanna Dammacco, Pasquale Procaccio, Vito Racanelli, Angelo Vacca, Franco Dammacco
The second patient experienced a central retinal artery occlusion (CRAO), an emergency condition that is considered the ocular analogue of cerebral stroke52 and has been described as possible initial manifestation of SLE.45,53 At the time of the first diagnosis of a severely active SLE, she complained of headache and dizziness associated with rapidly increasing, painless vision loss in her right eye, which eventually resulted in hand motion as BCVA. No signs and symptoms of giant cell arteritis of the temporal artery (such as fever, malaise, temporal tenderness, jaw claudication, shoulder and pelvic girdle pain) were present. Fundus examination was normal in the left eye, whereas retinal artery attenuation and whitening of the retina with a cherry-red spot in the fovea were observed in the right eye. SD-OCT of the same eye revealed marked edema of the macula and a delay in arterial filling at the early to late phase, but no emboli were detected by FFA. Cherry-red spots and a ground-glass retina became visible the next morning.
Capturing the Occult Central Retinal Artery Occlusion Using Optical Coherence Tomography
Published in Current Eye Research, 2021
Shafi Balal, Ahmed Said J’Bari, Ali Hassan, Anant Sharma, Siegfried Karl Wagner, Saruban Pasu
The mechanisms behind these findings are considered to be a result of retinal ischaemia leading to cellular damage and retinal oedema in the acute phase, eventually progressing to atrophic changes in the chronic phase.11 Chen and colleagues24 noted that cases of CRAO with a more oedematous retina had smaller cherry-red spots. They suggested the variation in size of cherry-red spots probably also could correspond to the degree of macular oedema. This would be explained by the same speculation that the more oedematous the retina was, the more ganglion cells were displaced towards the central fovea, which in turn might obscure the border of a cherry-red spot.