Cherry-red Spot Research Articles

GM1 Gangliosidosis Revealed by Fetoplacental Hydrops Syndrome: A Case Report

GM1 gangliosidos is describes a family of disorders that result from deficient activity of the lysosomal hydrolase, β-galactosidase, and which manifest varying degrees of neurodegeneration, retinal cherry-red spots, and visceromegaly. The three traditional subgroups of infantile, juvenile, and adult GM1 gangliosidosis show phenotypic overlap, although in general, the earlier the onset, the more severe the manifestations. This article gives an overview of the clinical signs in a patient with GM1 type 1 gangliosidosis revealed by fetoplacental hydrops syndrome.

Intravenous Thrombolysis for Central Retinal Artery Occlusion: A Look at the Literature for the Emergency Medicine Physician.

Central retinal artery occlusion (CRAO) is a subtype of ischemic stroke and true ocular emergency presenting with acute, painless, monocular vision loss. Typical findings include poor visual acuity (VA), impaired color vision, relative afferent pupillary defect, and on fundoscopic evaluation, retinal edema, cherry red spot, and occasionally visualization of retinal artery emboli. While there are no proven treatments for CRAO, options include orbital massage, hyperbaric oxygen therapy, and intra-arterial or intravenous thrombolysis (IVT). This study reviews the current literature on the efficacy of IVT for patients affected by acute, symptomatic CRAO and provides an up-to-date, evidence-based background for emergency physicians (EPs) who evaluate and manage these patients.

A rare simultaneous presentation of combined occlusion and optic neuritis in a lupus erythematosus patient with anti-phospholipid antibody syndrome.

A known case of Systemic Lupus Erythematosus (SLE) developed sudden loss of vision (no light perception) with relative afferent pupillary defect in her right eye (RE) and fundus examination revealed cherry red spot over tomato splash background with tortuous and dilated veins suggestive of combined central retinal arterial and vein occlusion. Left eye (LE) had 6/6 vision but posterior segment revealed a hyperemic disc. Fundus fluorescein angiography (FFA) revealed delayed arm to retina time and increased arterial to vein transit time in RE. LE showed pooling of dye around optic disc suggestive of SLE related Optic neuritis. Patient was re-evaluated and she tested positive for Lupus anticoagulant. Patient was diagnosed to have anti-phospholipid antibody syndrome (APS) occurring secondary to SLE. She was started on intra venous steroids, anti-coagulants and disease progression in left eye was controlled. We report a rare simultaneous presentation of complete combined occlusion of central retinal artery and vein (CCRAVO) in RE and Optic neuritis in LE which has not been reported in literature so far. Ocular involvement may precede other systemic symptoms in SLE, so ophthalmologist should know about this rare simultaneous presentation. Ocular activity can correlate with systemic disease activity and starting early effective treatment can prevent other systemic lesion and can be life saving.

Sequential central retinal artery occlusions associated with cryoglobulinemia

BackgroundCryoglobulinemia, the presence of serum cryoglobulins which are immunoglobulins or complement components that precipitate at temperatures below 37 °C, commonly present with cutaneous manifestations initially, but are more rarely associated with ocular manifestations. To our knowledge, we report the first case of a patient presenting with sequential central retinal artery occlusion (CRAO) associated with cryoglobulinemia.Case presentationA 69-year-old female with a history of indolent B-cell lymphoma associated cryoglobulinemia, treated hepatitis B infection and CRAO in the left eye presented with acute vision loss and diffuse retinal whitening with a cherry red spot in her right eye, suggestive of sequential CRAO. Laboratory studies revealed a cryocrit of 55% (normal < 1%), elevated titres of cryoglobulin IgG at 1.98 g/L and cryoglobulin IgM at 3.78 g/L (normal < 0.3 g/L)9, and elevated kappa free light chain at 283.5 mg/L (normal < 0.06 g/L). Such elevated tires of cryoglobulins in the context of the patient’s CRAO raised suspicion of cryoglobulinemia associated CRAO. The patient was promptly referred to rheumatology and oncology and was admitted for treatment including intravenous methylprednisone, rituximab and bendamustine chemotherapy.ConclusionsWe report a patient with a complex medical history presenting with significant vision loss due to a sequential CRAO likely associated with cryoglobulinemia. Although a direct relationship between cryoglobulinemia and CRAO cannot be confirmed in this case, it highlights the importance of considering cryoglobulinemia in high-risk patients with prior history of hematological malignancy or chronic hepatitis infection.

TAY-SACHS DISEASE IN A CHILD: A RARE CASE REPORT ,GGH KURNOOL

The neurodegenerative condition known as Tay-Sachs disease is inherited in an autosomal recessive pattern and is caused by an abnormal accumulation of the cell membrane glycolipid and GM2 ganglioside within the lysosomes of affected cells. A lack of the isoenzyme -hexosaminidase A, which is synthesised in the endoplasmic reticulum, is the root cause of this condition. In patients who have Tay-Sachs disease, the first few months of life are characterised by normal motor development, followed by gradual weakening and loss of motor abilities beginning around 2 to 6 months of life. Due to the irreversible nature of neurodegeneration, death typically occurs between the ages of 4 and 5 years. The hexosaminidase enzyme assay and DNA analysis of the HEXA gene are two methods that can be used to diagnose TaySachs disease. On the other hand, there is no specific treatment that has been established. We discuss here a case of TaySachs disease found in an 9-month-old male child who presented with loss of milestones and seizure symptoms. Upon examination of the fundus, it was found that this patient had cherry red spot in the macula. In the enzymatic assay, the hexosaminidase A activity was zero percent, and DNA analysis revealed a mutation in which glutamine was replaced by a stop codon at position 390

Optical Coherence Tomography Findings in Cherry-Red Spot: Implications for Understanding Pathophysiology and Visual Prognosis.

To report optical coherence tomography (OCT) findings of cherry-red spots from Tay-Sachs and Niemann-Pick disease. Consecutive patients with Tay-Sachs and Niemann-Pick disease evaluated by the pediatric transplant and cellular therapy team, for whom a handheld OCT scan was obtained, were included. Demographic information, clinical history, fundus photography, and OCT scans were reviewed. Two masked graders evaluated each of the scans. The study included 3 patients with Tay-Sachs disease (5, 8, and 14 months old) and 1 patient with Niemann-Pick disease (12 months old). All patients had bilateral cherry-red spots on fundus examination. In all patients with Tay-Sachs disease, handheld OCT revealed parafoveal ganglion cell layer (GCL) thickening, increased nerve fiber layer, and GCL reflectivity, and different levels of residual normal signal GCL. The patient with Niemann-Pick disease had similar parafoveal findings, but there was a thicker residual GCL. Sedated visual evoked potentials were unrecordable in all 4 patients despite 3 of them demonstrating normal visual behavior for age. Patients with good vision had relative sparing of the GCL on OCT. The cherry-red spots in lysosomal storage diseases appear as perifoveal thickening and hyperreflectivity of the GCL on OCT. In this case series, residual GCL with normal signal proved to be a better biomarker for visual function than visual evoked potentials and could be considered for future therapeutic trials. [J Pediatr Ophthalmol Strabismus. 2023;60(6):435-440.].

Cherry red spot: Evidence that its identification can speed up the diagnosis of GM2 gangliosidosis

Cherry red spot: Evidence that its identification can speed up the diagnosis of GM2 gangliosidosis

Amalric triangular sign: Combined central retinal artery and posterior ciliary artery occlusion presenting with macular edema

A 55-year-old female patient presented with no light perception and features suggestive of central retinal artery occlusion (CRAO) and posterior ciliary artery occlusion. Multimodal imaging analysis revealed retinal thickening, cherry-red spot, pallid optic disc with choroidal infarction (Amalric sign), and macular edema. Carotid Doppler disclosed 70% stenosis of the right common carotid artery. Systemic investigations showed elevated erythrocyte sedimentation rate, total cholesterol, and low-density lipoprotein level. The Amalric triangular sign with CRAO may present with macular edema. Prompt cardiac and carotid evaluation with appropriate management should be done.

Syndromic Cherry – Goldberg Cotlier syndrome

The cherry-red spot in typical central retinal artery occlusion occurs because of the reddish color of the vascular choroid and retinal pigment epithelium seen through the foveola while the adjacent inner retina is opacified. We report a case of a bilateral pseudo-cherry-red spot in association with conjunctival telangiectasia and corneal posterior stromal clouding.

A fuzzy rule based machine intelligence model for cherry red spot disease detection of human eyes in IoMT

Internet of medical things (IoMT) plays an important role nowadays to support healthcare system. The hospital equipment’s called as medical things are now connected to the cloud for getting many useful services. The data generated from the equipments are sent to the cloud for getting the desired service. In current scenario, most hospitals collect many images using equipments, but these equipments have less computational capability to process the huge generated data. In this work, one such equipment is considered which can take the human eye images and send the images to the cloud for detection of cherry red spot (CRS). CRS disease in eyes is considered as one of the very dangerous disease. The early diagnosis of CRS disease needs to be focused in order to avoid any adverse effect on human body. In this paper, a machine intelligence based model is proposed to detect the CRS disease areas in the human eyes by analyzing several CRS disease images using IoMT. The proposed approach is mainly focused on fuzzy rule-based mechanism to carry out the identification of such affected area in the eyes in cloud layer. From the results, it is observed that the CRS disease areas in the eyes are detected well with better detection accuracy and lower detection error than k-means algorithm. This approach will help the doctors to track the exact position of the affected areas in the eye for its diagnosis. The simulation is performed using socket programming written in Python 3 where a cloud server and a client device are created and images are sent from the client device to the server, and afterwards the detection of CRS is performed at the server using MATLAB R2015b. The proposed method is able to provide better performance in terms of detection accuracy, detection error and processing time as 94.67%, 5.33% and 1.1481% units respectively on an average case scenario.

Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients

Background:GM1 gangliosidosis is an autosomal recessive lysosomal storage disease caused by biallelic mutations in the GLB1 gene. Neurodegeneration, hypotonia, visceromegaly, macular cherry-red spots, skeletal dysplasia, and coarse and dysmorphic face are the major clinical features.Aims:To evaluate the demographic and clinical data of patients with GM1 gangliosidosis in a single center.Study Design:A retrospective clinical study.Methods:This study included patients followed at Hacettepe University İhsan Doğramacı Children’s Hospital Pediatric Metabolism Unit with the diagnosis of GM1 gangliosidosis between 1988 and 2021. Hospital records of the patients were reviewed for demographic, clinical, and laboratory findings.Results:Fourteen patients were included in the study and 10 (71.4%) were male. The age at onset of clinical symptoms was between 0 and 5 months, and the median time to diagnosis after the first symptom was 4.3 (0-13) months. Motor delay (54%) was the most common initial symptom. The median follow-up period was 14.8 (0.4-92.2) months. Twelve patients (85.7%) died, and all deaths occurred before the age of 24 months. The median survival was 21.3 (95% confidence interval, 15.5-24.9) months. Higher leukocyte beta-galactosidase activity correlated with later age at onset (ρ = 0.575), later age at diagnosis (ρ = 0.618), and longer diagnostic delay (ρ = 0.702) (ρ < 0.05).Conclusion:Median survival in patients with GM1 gangliosidosis is less than 24 months. Beta-galactosidase enzyme activity may be associated with clinical onset and time of diagnosis in these patients.

Infantile Sandhoff disease with ventricular septal defect: a case report

BackgroundInfantile Sandhoff disease is a rare inherited disorder that progressively destroys nerve cells in the brain and spinal cord, and is classified under lysosomal storage disorder. It is an autosomal recessive disorder of sphingolipid metabolism that results from deficiency of the lysosomal enzymes β-hexosaminidase A and B. The resultant accumulation of GM2 ganglioside within both gray matter nuclei and myelin sheaths of the white matter results in eventual severe neuronal dysfunction and neurodegeneration.Case presentationWe evaluated a 3.5-year-old Comorian girl from the United Arab Emirates who presented with repeated chest infections with heart failure due to ventricular septal defect, neuroregression, recurrent seizures, and cherry-red spots over macula. She had macrocephaly, axial hypotonia, hyperacusis, and gastroesophageal reflux. Organomegaly was absent. Brain magnetic resonance imaging, metabolic tests, and genetic mutations confirmed the diagnosis. Despite multidisciplinary therapy, the girl succumbed to her illness.ConclusionThough early cardiac involvement can be seen with novel mutations, it is extremely rare to find association of ventricular septal defect in infantile Sandhoff disease. Neuroregression typically starts around 6 months of age. We report this case because of the unusual association of a congenital heart disease with underlying infantile Sandhoff disease and symptomatic heart failure in the first month of life with eventual fatal outcome.

Niemann-Pick type A disease with new mutation: a case report

BackgroundNiemann-Pick type A (NP-A) is a congenital, hereditary disease caused by a deficiency in acid sphingomyelinase, a lysosomal enzyme. This deficiency results in an accumulation of sphingomyelin in lysosomes, leading to cellular apoptosis and ultimately to hepatosplenomegaly, neurodegenerative disorder and failure to thrive. Cherry-red spots in the macula and foamy cells in the bone marrow are other manifestations of the disease that help with diagnosis. Type A is a rare, untreatable disease with early manifestations and a poor prognosis, with newborns rarely surviving for 2–3 years.Case presentationA 1-year-old Persian boy was referred to our clinic due to abdominal distention and poor weight gain. He was the first male offspring of consanguineous parents. Other findings were neurodevelopmental delay, hepatosplenomegaly, severe hypotonia, difficulty in breathing, and a slightly coarse face with an open mouth and protruding tongue. The initial diagnosis was clinical mucopolysaccharidosis (MPS) based on the coarse facial features, but further workup ruled out this inherited disorder. Enzyme histochemistry revealed that the level of acid sphingomyelinase was lower than normal. In the genetic study, next-generation sequencing of all coding exons and flanking intronic regions of the patient’s DNA demonstrated a homozygous c.682T>G variant in the SMPD1 gene. This variant was classified as a variant of unknown significance. Further evaluation of DNA extract from his parents and examined using Sanger sequencing showed a heterozygous c.682T>G variant in the SMPD1 gene of both parents.ConclusionsWe describe a 1-year-old boy with neurodevelopmental delay, hepatosplenomegaly, and severe hypotonia. Further investigation demonstrated a new mutation for Niemann-Pick disease.

Amaurosis Fugax Preceeding Central Retinal Artery Occlusion : a Case Report

Amaurosis fugax is a temporary condition characterized by transient visual loss which lasts several minutes or hours. This symptom can precede central retinal artery occlusion, which can cause permanent visual loss and bear several morbidity and mortality risks. We are reporting a case of a 59-year-old female with an unknown history related to risk factors who developed a painless vision loss in her right eye after experiencing similar symptoms for a short time. We describe the clinical features and other findings related to the diagnosis and discuss the further risk and management. Medical history, physical examination, and optical coherence tomography diagnosed acute central retinal artery occlusion. This includes a history of painless monocular vision loss, macular cherry-red spots, and papilledema. The diagnosis was confirmed by optical coherence tomography showing hyperreflectivity in the inner retinal layer, retinal edema, and hyperreflectivity in the outer retinal layer. Blood test including complete blood check, erythrocyte sedimentation rate (ESR), C reactive protein, lipid profile, and inflammatory markers within normal limit. The patient was then administered to further secondary vascular occlusion prevention, including a blood test, and referred to the neurology department for further examination. Early diagnosis and prompt treatment are necessary for this occlusive disease. A comprehensive examination to mitigate secondary vascular occlusion is needed to prevent morbidity and mortality.

Neonatal cholestasis is an early liver manifestation of children with acid sphingomyelinase deficiency

BackgroundPatients with acid sphingomyelinase deficiency (ASMD) may be referred to a hepatologist for liver manifestations. This study summarized the liver manifestations of patients with ASMD in the early disease course.MethodsThis study enrolled ASMD patients diagnosed by genetic tests between July 2016 and December 2020 in a national pediatric liver center. The significance of low High-density lipoprotein cholesterol (HDL-C) for aid diagnosis of ASMD in infancy was explored by reviewing 160 consecutive infants with liver manifestations, who underwent both genetic tests and lipid profile studies, between January 2020 and December 2020.ResultsA total of 7 patients were diagnosed as ASMD, and 10 known disease-causing variants were identified. Hepatosplenomegaly, elevated transaminases, and liver foam cells were observed in all the 7 patients at age ranging from 4 to 31 months. Low HDL-C was detected in 5 patients, cherry red spot in 4 patients, development delay in 3 patients, and interstitial lung diseases in 1 patient. Three ASMD patients developed cholestasis around 1 month of age, and bilirubin levels normalized at age ranging from 3 to 10 months. They had persistently elevated transaminases and hepatosplenomegaly, and died within 4 years of age. Among the 160 infants with liver manifestations, 125 (78.1%) had low HDL-C. Fifty-four had both low HDL-C and splenomegaly, including 48 cholestatic infants, but only 1 (1.9%, 1/54) infant without cholestasis was diagnosed as ASMD.ConclusionsASMD can manifest as neonatal cholestasis in the early disease course. Cholestasis is a pitfall when low HDL-C is used for aid diagnosis of ASMD in infants with splenomegaly.

Niemann-Picks disease in a child with massive hepato-spleenomegaly

Niemann-pick disease is a rare lysosomal storage disease responsible for numerous cytological abnormalities involving liver, spleen, lymph nodes, nervous system, lungs and bone marrow. This disease occurs due to accumulation of sphingomyelin in various tissues. Our patient was a 10 month who boy presented with hepatosplenomegaly. Cherry red spot was found on ophthalmologic examination. Niemann-Pick cell was confirmed on bone marrow examination and lysosomal studies. A good clinical examination led us to the diagnosis of Niemann-Pick disease.

The coexistence of two rare diseases thought to use the same pathologic pathway: cystic fibrosis and Niemann-Pick disease

Cystic fibrosis (CF) is a multisystemic, autosomal recessive disease, which is caused by a mutation in the transmembrane conduction regulator protein (CFTR) gene. We present a patient who was diagnosed with CF and later diagnosed with Niemann-Pick type-A (NPA) disease, which is an autosomal recessive lysosomal lipid storage disease. A 2-month-old Syrian refugee patient was diagnosed with CF due to a high sweat test and two homozygous CFTR-related pathogenic gene mutations in our pediatric pulmonology clinic, where she was referred due to a high immunoreactive trypsinogen (IRT) value as a result of newborn screening. As the patient had neurological symptoms and hepatosplenomegaly that could not be explained by CF in the clinical follow-up, the patient was diagnosed with NPA was made with a cherry red spot on eye examination, foam cells in the bone marrow, and low sphingomyelinase activity, in addition to CF. Although CF and NP have common systems of involvement in both diseases, pathological symptoms have different origins. If a patient with CF has simultaneous neuromotor delay, other autosomal recessive diseases that may accompany it should be suspected. In studies, similar pathological pathways related to abnormal cholesterol accumulation in the cell were detected between NP type C and CF. But our case was NPA. As case reports on the coexistence of the two diseases increase, we believe that a better understanding of similar pathological pathways may lead to new therapeutic targets for both diseases.

Eyeing the Spots and the Spot in the Eye

A meticulous clinical examination is indispensable in the diagnosis of neurometabolic disorders. We describe an 11-month-old girl with the classical “Hurler phenotype” who was referred to us with a diagnosis of mucopolysaccharidosis. But on “eyeing” the extensive Mongolian spots on the back and the cherry red spot in the eye, GM1 gangliosidosis were suspected and confirmed by enzyme assay. Examination of the fundus and the presence of extensive Mongolian spots can provide valuable clues to the diagnosis of metabolic disorders.

Looking "Cherry Red Spot Myoclonus" in the Eyes: Clinical Phenotype, Treatment Response, and Eye Movements in Sialidosis Type 1.

Sialidosis type 1 is a rare lysosomal storage disorder caused by mutations of the neuraminidase gene. Specific features suggesting this condition include myoclonus, ataxia and macular cherry-red spots. However, phenotypic variability exists. Here, we present detailed clinical and video description of three patients with this rare condition. We also provide an in-depth characterization of eye movement abnormalities, as an additional tool to investigate pathophysiological mechanisms and to facilitate diagnosis. In our patients, despite phenotypic differences, eye movement deficits largely localized to the cerebellum.

Man with sudden visual loss

A 72-year-old man with hypertension and atrial fibrillation presented to the emergency department (ED) with sudden-onset, painless, severe vision loss in his right eye. His visual acuity was limited to counting fingers from a distance of 5 cm in the affected eye, with a positive relative afferent pupillary defect. Color fundus photography demonstrated retinal whitening and a cherry-red spot in the macula. Point-of-care ultrasound found a hyperechoic spot within the right central retinal artery (Figure 1A) and a normal left eye (Figure 1B).