Cherry red spot is a known sign of retinal occlusive disease. However, when it occurs bilaterally in a young patient with neurological findings, a diagnosis of retinal occlusive disease becomes farfetched, and the possibility of a storage disorder is raised. We report multimodal retinal imaging findings in a case of cherry-red spot myoclonus syndrome. This form of imaging helps in the ophthalmological diagnosis and management of these patients.

Progressive familial intrahepatic cholestasis type 1 (PFIC1) associated with a cherry-red spot, to our knowledge, has never been reported in the literature. We report the case of a 10‑month‑old girl with prolonged cholestasis. A diagnosis of PFIC1 was made by whole‑exome sequencing. Fundus examination showed a cherry-red spot. Our case provides a new insight toward the first case of ocular manifestation of PFIC1. Further studies are required to elucidate FIC1 gene expression in the macula.

Sialidosis is an inborn error of metabolism due to a defect in the NEU1 gene and manifests as two phenotypes: mild type I and severe type II. The cherry red spot (CRS) is a characteristic feature in both types of sialidosis; reports of sialidosis without a CRS are rare. We report two cases of genetically confirmed sialidosis type I with a typical presentation of progressive cortical myoclonus and ataxia but without the CRS. A previously reported homozygous pathogenic variant p.Arg294Cys was detected in the first case, and a novel homozygous pathogenic variant p.Arg305Pro was detected in the second case. Additionally, we reviewed the literature describing cases with similar mutations to find a genetic basis for the absence of a CRS. Milder mutation of both alleles detected in both patients may be the reason for the absence of a CRS.

UNASSIGNED: To introduce a case of bilateral retinal artery occlusions with carotid occlusions to achieve a fuller understanding of hemodynamic flow changes and the origin of emboli.
UNASSIGNED: A 58-year-old male presented with binocular vision loss. Fundus examination revealed bilateral retinal whitening with multiple emboli. Cherry red spot was surrounded and shaped by white edematous ischemic retina. FAG showed retinal refilling but not to the macula and choroidal background. Carotid arteriography and color Doppler images demonstrated bilateral carotid occlusions. CT angiography showed compensatory flows perfused from vertebral arteries for the brain. Orbital color Doppler images revealed bilateral reversed ophthalmic flows indicating another compensatory flow arising from external carotid/ophthalmic collaterals to both eyes.
UNASSIGNED: Reversed ophthalmic flow indicates the presence of external carotid/ophthalmic collaterals as the source of ocular blood supply and the origin of emboli. In this case, all the embolic, hemodynamic, and serotonin mechanisms may be responsible for the pathogenesis. RAO with multiple emboli is an important sign warning critical flow changes of carotid occlusions.

UNASSIGNED: To describe a case of central retinal artery occlusion (CRAO) after nasosinal surgery and subject\'s subsequent response to hyperbaric oxygen therapy (HBOT).
UNASSIGNED: Observational case report.
UNASSIGNED: We describe a subject with diagnosed CRAO after septoplasty, bilateral inferior turbinate reduction and balloon sinuplasty, who was given hyperbaric oxygen treatment after four days of onset of CRAO with an improvement in visual acuity and visual field.
UNASSIGNED: Even though CRAO has been rarely reported after ENT procedures and HBOT has been previously described for the treatment, this is the case report where hyperbaric oxygen was given after four days of onset, with a possible improvement.

Infantile Sandhoff disease is an autosomal recessive inherited disease primarily characterized by cherry red spots in the retina, muscle weakness, seizure, truncal hypotonia, hyperacusis, developmental delay and regression. The pathogenic genetic defects of the HEXB gene, which encodes the β subunit of the hexosaminidase A (ɑβ) and hexosaminidase B (ββ) enzymes, cause deficiency of both the Hex A and Hex B enzymes, resulting in the deposition of GM2 ganglion glycerides in the lysosomes of the central nervous system and somatic cells. The aim of this study was to discover disease-causing variants of the HEXB gene in two Chinese families through the use of exome sequencing. By characterizing three novel variants by molecular genetics, bioinformatics analysis, and three-dimensional structure modeling, we showed that all these novel variants influenced the protein structure. The results broaden the variant spectrum of HEXB in different ethnic groups. Furthermore, not all patients diagnosed with infantile Sandhoff disease had characteristic cranial imaging findings, which can only be used as supplementary information for diagnosis. The results of this study may contribute to clinical management, genetic counseling, and gene-targeted treatments for Sandhoff disease.

UNASSIGNED: To illustrate a case of ocular infarction following percutaneous ethanol sclerotherapy of an orbital arteriovenous malformation.
UNASSIGNED: The patient is a 31-year-old female who developed ocular infarction of the left eye with light perception vision, proptosis, ophthalmoplegia, and a cherry red spot following sclerotherapy of an orbital arteriovenous malformation. Fluorescein angiography demonstrated decreased arteriolar filling with vascular leakage, indocyanine green angiography showed decreased choroidal perfusion, and optical coherence tomography revealed full thickness retinal edema. Magnetic resonance angiography and venography were negative for venous sinus thrombosis or intracranial vascular compromise.
UNASSIGNED: Ocular infarction is a rare and devastating disorder that may result in permanent vision loss. Ethanol sclerotherapy has been reported to be effective in treating arteriovenous malformations. To the best of our knowledge, this is the first report in the literature of ocular infarction following percutaneous ethanol sclerotherapy to highlight this disease with multimodal imaging.

The retinal ganglion cells infarcted in central retinal artery occlusion (CRAO) are the somata of the optic nerve axons, part of the central nervous system. Consequently, CRAO with inner retinal infarction is a small vessel stroke, usually with the devastating consequence of severe visual loss in the affected eye. At present, there is no generally accepted, evidence-based therapy of nonarteritic CRAO in contrast to ischemic cerebral stroke that has well-accepted treatment protocols. Widely divergent and controversial therapeutic options for CRAO reflect the desperation of treating physicians and disparate conflicting studies. We examine reasons why treatment of nonarteritic CRAO remains problematic and then suggest a provisional new approach to treatment based on updated understanding of CRAO pathophysiology and analysis of current therapeutic options and their rationales.

Infantile Sandhoff disease (ISD) is a GM2 gangliosidosis that is classified as a lysosomal storage disorder. The most common symptoms of affected individuals at presentation are neurologic involvement. Here we report clinical course and demographic features in a case series of infantile Sandhoff disease. Enzymatically and some genetically proven cases of ISD were extracted from the Iranian Neurometabolic Registry (INMR) in Children\'s Medical Center, Iran, Tehran from December 2010 to December 2016.
Twenty five cases of infantile SD (13 female, 12 male) were included in this study. The age range of patients was 9-24 months with a mean of 15.8 months. The consanguinity rate of parents affected families was about 80%. The mean age of patients at disease onset was 6.4 months and the mean age at diagnosis was 14 months. Patients were diagnosed with a mean delay of 7.8 months. Eleven of patients died due to aspiration pneumonia and intractable seizure. The most common features at presentation (92%) were developmental delay or regression in speech and cognitive domains. Cherry red spots were detected in 17 patients (68%). Organomegaly was detected only in two patients. Enzyme studies showed marked reductions of both Hexosaminidase A and B in all patients. HEXB gene mutation studies performed in eight patients identified 6 different mutations, which five of them were novel.
Infantile SD should be considered for each child presented with neurologic symptoms such as developmental delay and regression and cherry red spots in ophthalmic examination. Organomegaly is not a frequent clinical finding in infantile SD. Additionally; there are a genetic heterogenisity among Iranian patients.

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