Cherry-red Spot Research Articles

Juvenile-Onset GM2-Gangliosidosis in an African-American Child With Nystagmus

G(M2)-gangliosidosis is a neurodegenerative lysosomal disease with several clinical variants. We describe a 2-year-old black child with juvenile-onset disease, who presented with abnormal eye movements and cherry-red spots of the maculae. Mutation analysis of the HEXA gene revealed the patient to be a compound heterozygote (M1V/Y37N). The M1V mutation was previously described in an African-American child with acute infantile G(M2)-gangliosidosis. The Y37N mutation is novel. This combination of mutations is consistent with juvenile-onset disease, and provides further evidence for the association of the M1V mutation with individuals of black ancestry. The presence of oculomotor abnormalities is an unusual finding in this form of G(M2)-gangliosidosis, and adds to the phenotypic spectrum.

Central Retinal Artery Obstruction in Protein S Deficiency

Purpose: To report a case of central retinal artery obstruction (CRAO) caused by protein S deficiency. Case summary: A 36-year-old man presented with acutely reduced visual acuity in the right eye. The patient had no other diseases such as diabetes mellitus or hypertension. The visual acuity was 20/20 in the right eye and light perception in the left eye. Afferent pupillary defect was observed in theleft eye. Fundus examination showed diffuse retinal opacification and a cherry-red spot at the macula. Thus the patient was diagnosed with CRAO in the left eye. There were no abnormal findings on routine hematologic tests including blood coagulation test. Protein C activity, antithrombin III activation, anticardiolipin antibody were within normal limits but protein S activity was decreased. Thus, the patient was diagnosed with CRAO with protein S deficiency. Conclusions: Coagulation factors such as protein S need to be measuredin cases of CRAO in young patients without medical problems.

Bilateral Ophthalmic Artery Occlusion in Rhino-Orbito-Cerebral Mucormycosis

PurposeTo report a case of bilateral ophthalmic artery occlusion in rhino-orbito-cerebral mucormycosis.MethodsReviewed clinical charts, photographs, and fluorescein angiography.ResultsAn 89-year-old man with poorly controlled diabetes developed sudden bilateral ptosis, complete ophthalmoplegia of the right eye, and superior rectus palsy of the left eye. Brain and orbit magnetic resonance imaging showed midbrain infarction and mild diffuse sinusitis. On the 2nd day of hospitalization, sudden visual loss and light reflex loss developed. There were retinal whitening, absence of retinal arterial filling, and a total lack of choroidal perfusion on fluorescein angiography of the right eye. The left eye showed a cherry red spot in the retina and the absence of retinal arterial filling and partial choroidal perfusion on fluorescein angiography. On rhinologic examination, mucormyosis was noticed. Despite treatment, visual acuity and light reflex did not recover and he died 4 days after admission.ConclusionsBilateral ophthalmic artery occlusion can occur in rhino-orbital-cerebral mucormycosis.

Unsuccessful treatment attempt: Cord blood stem cell transplantation in a patient with Niemann–Pick disease type A

Niemann-Pick disease type A (NP-A; OMIM 257200) is an autosomal recessive lysosomal storage disorder caused by deficiency of acid sphingomyelinase and resulting in accumulation of sphingomyelin, unesterified cholesterol, and other complex lipids in many tissues. It is characterized by failure to thrive, hepatosplenomegaly, and a rapidly progressive neurodegenerative course culminating in death by 3 years of age. There is no known effective treatment. We report the case of a prenatally diagnosed girl who underwent cord blood stem cell transplantation (CBSCT) at 3 months of age. She was neurologically intact at the time of CBSCT. Hepatosplenomegaly, was detected at 6 weeks of age; the splenomegaly resolved following CBSCT. Recovery was complicated by graft-versus-host disease. She subsequently developed and continues to show marked global developmental delay, generalized hypotonia, and signs of neurological regression, despite continued engraftment. Bilateral cherry red spots were detected at 10 months of age, 7 months post-CBSCT. Although she is doing better than her affected brother, she shows little overall benefit from CBSCT.

Bilateral Orbital Infarction, Ophthalmic Artery Occlusion, and Cherry-red Spot

Bilateral Orbital Infarction, Ophthalmic Artery Occlusion, and Cherry-red Spot

Bilateral Orbital Infarction, Ophthalmic Artery Occlusion, and Cherry-red Spot—Reply

Bilateral Orbital Infarction, Ophthalmic Artery Occlusion, and Cherry-red Spot—Reply

DMP014 A dysmorphic child with acrocephaly, seizures, long fingers, and cherry red spots: a new association

DMP014 A dysmorphic child with acrocephaly, seizures, long fingers, and cherry red spots: a new association

Acute painless monocular visual loss due to central retinal artery occlusion in a patient with Churg–Strauss vasculitis

Ocular involvement in Churg-Strauss syndrome (CSS) is infrequent. We describe a case of a 50-year-old woman, with blood eosinophilia, involvement of the respiratory tract, skin, and peripheral nervous system, fulfilling the American College of Rheumatology criteria for CSS, who presented with left foot drop followed by left acute painless visual loss. Central retinal artery occlusion was diagnosed by fundoscopic findings (retinal whitening with a cherry-red spot). CSS was confirmed by sural nerve biopsy. Despite treatment with high-dose corticosteroids, cyclophosphamide, and anticoagulant therapy, visual acuity was not substantially improved. Acute blindness in CSS has been rarely described. Even more rarely, central retinal artery occlusion has been found to be the underlying cause of this infrequent clinical manifestation in CSS.

The “Cherry Red” Spot

The term “cherry red spot” was used in 1887 by Bernard Sachs in his paper on “arrested development with special reference to its cortical pathology,” in describing the fundus of a child with “amaurotic familial idiocy.” The patient was confirmed on neuropathologic examination to have lipid storage in the brain [1]. Bernard Sachs acknowledged that his patient had also been seen by Herman Joseph Knapp, an ophthalmologist who practiced in New York and Berlin. Knapp had described the striking retinal findings at an ophthalmology meeting in Heidelberg, and had first used the term “cherry red color” to describe the fovea [2]. Subsequently, the disorder was established as Tay Sachs disease. Knapp had initially felt that the cherry red spot was a benign finding, but later realized its grave implications. This retinal appearance may also be seen in Sandhoff disease, sialidosis types I and II, galactosialidosis, GM1 gangliosidosis, GM2 gangliosidosis, Goldberg syndrome, metachromatic leukodystrophy, Niemann-Pick disease types A, B, C, and D, Farber lipogranulomatosis, multiple sulfatase deficiency, poisoning (dapsone), and Wolman disease (Table 1). The characteristic pale hue results from heavy deposition of lipid, sphingolipid, or oligosaccharide material in the ganglionic cells of the retina at the macula, where these cells are several layers thick. In the center of the pale region lies the foveal pit which lacks ganglion cells, and thus continues to retain its reddish appearance. The roving eye movements that accompany blindness can hinder visualizing the cherry red spot, thus at times necessitating a dilated eye examination under general anesthesia. The cherry red spot may become less prominent over time, concurrent with loss of the affected peri-macular ganglion cells [3]. Because the cherry red appearance (Fig. 1) of the retina is characteristic only of Caucasians, and because the retinal complexion differs based on ethnicity, it was suggested that the term “perifoveal white patch” may be more appropriate than cherry red spot [4]. The appearance of a cherry red spot may also result from retinal edema due to central retinal artery occlusion or traumatic retinal ischemia. Retinal ischemia causes the perimacular tissue to appear pale, while the fovea maintains its normal color. A macular hemorrhage or hole, with resulting enhanced red contrast

Central retinal artery occlusion in an ANCA negative Churg-Strauss syndrome patient

To describe a central retinal artery occlusion in a patient with antineutrophil cytoplasmic antibody (ANCA) negative Churg-Strauss syndrome. Review of clinical and laboratory findings of a 44-year-old woman with ANCA negative Churg-Strauss syndrome that developed sudden vision loss in left eye. Left central retinal artery occlusion was diagnosed by retinal whitening, a cherry-red spot, and delayed arterial filling on fluorescein angiography. Perinuclear ANCA and cytoplasmic ANCA were negative. Central retinal artery occlusion can occur in ANCA negative Churg-Strauss syndrome. Patients with this diagnosis should be considered for prophylactic high dose corticosteroid, regardless of their ANCA status.

FUNDUS CHANGES IN CENTRAL RETINAL ARTERY OCCLUSION

To investigate systematically the ophthalmoscopic fundus findings associated with central retinal artery occlusion (CRAO). The study included 240 consecutive patients (248 eyes) with CRAO. The eyes underwent detailed fundus evaluation and stereoscopic color fundus photography at initial and follow-up visits. Patients without evidence of giant cell arteritis were advised to have carotid Doppler imaging and echocardiography to determine the source of emboli. CRAO was classified into 3 types: permanent CRAO (175 eyes), permanent CRAO with cilioretinal artery sparing (35 eyes), and transient CRAO (38 eyes). In the three types of CRAO, acute-phase and late-phase changes in the retina, optic disk, and retinal vessels were evaluated. The main findings during the initial examination in our clinic for permanent CRAO were retinal opacity in the posterior pole (58%), cherry-red spot (90%), box-carring (19%), retinal arterial attenuation (32%), and optic disk edema (22%) and pallor (39%). The most frequent findings identified at the late stage, based on survivorship curves, were optic atrophy (91%), retinal arterial attenuation (58%), cilioretinal collaterals (18%), and macular retinal pigment epithelial changes (11%). Compared with permanent CRAO, permanent CRAO with cilioretinal artery sparing was associated with a lower incidence of all macular and optic disk abnormalities. For transient CRAO, the incidence of initial findings varied greatly compared with the other types. Intraarterial emboli were observed in 20% of patients. Carotid Doppler evaluation identified carotid vascular plaques in 67% of patients tested and hemodynamically significant (>50%) obstruction in 32%. Four percent of CRAOs presented with simultaneous bilateral onset. The type and incidence of fundus findings at the initial visit and in the late phase of CRAO vary by its type. This study confirms that retinal opacity is predominantly evident in the posterior retina, that optic disk findings at presentation are common, that CRAO associated with normal-appearing retinal vessels and/or optic disk is not rare, and that observation of emboli is infrequent. Clinicians should be aware of the various presentation findings during the acute and late stages of CRAO and its various types. A complete picture of CRAO is provided by combined information of our clinical and experimental studies of CRAO.

Central Retinal Artery Occlusion

A 76-year-old man with hypertension presented with a sudden, painless, and profound loss of vision in the right eye. Visual acuity was light perception only in the affected eye, with a positive relative afferent pupillary defect. Ophthalmoscopic examination revealed diffuse retinal whitening, constriction of the arteriole and venule with segmentation (Panel A, arrowhead), and a cherry-red spot in the macula (Panel A, arrow) — all signs compatible with the diagnosis of central retinal artery occlusion. A horizontally oriented optical coherence tomograph of the macula (Panel B, arrowhead) demonstrated increased thickness and reflectivity of the inner bands, indicating ischemic damage to . . .

Sudden Unilateral Blindness in a Girl With Kawasaki Disease

This article describes a 9-year-old girl with clinical and laboratory features of Kawasaki disease. On day 7 of her febrile illness, she developed sudden loss of vision in the right eye. Visual acuity was no light perception. Dilated funduscopy showed diffuse intense retinal whitening, narrowing retinal arterioles, and a pale swollen disk-but no cherry-red spot. These findings suggested ophthalmic artery obstruction. Kawasaki disease can be sight-threatening.

Combined central retinal artery and vein occlusion in Churg–Strauss syndrome: case report

To describe a rare case of Churg-Strauss syndrome presenting with severe visual loss due to a combined central retinal vein and artery occlusion. A 42-year old man with a medical history of asthma and blood hypereosinophilia developed a sudden loss of vision in his right eye. We describe the clinical features and evolution of the case after treatment. A combined occlusion of the central retinal artery and central retinal vein was diagnosed by the funduscopic appearance of retinal whitening, macular cherry-red spot, papilloedema, retinal haemorrhages in all four quadrants and dilated and tortuous veins. The diagnosis was confirmed by a fluorescein angiogram showing absence of retinal filling and normal choroidal filling. Churg-Strauss syndrome was diagnosed based on the necessary presence of four of six criteria for the disease proposed by the American College of Rheumatology. Corticosteroid therapy was initiated. However, during the following year when tapering off the daily dosage, the patient experienced two relapses, with pulmonary symptoms and hypereosinophilia, and the corticosteroid dosage had to be augmented. The patient presented with neovascular glaucoma 7 weeks after the vascular occlusion and experienced no visual improvement. Combined central retinal artery and vein occlusion can occur in Churg-Strauss syndrome. We suggest that regional vasculitis may be the pathological mechanism underlying the vascular occlusions observed in our case. The condition carries a very poor prognosis for vision, due to the resulting retinal ischaemia, and a poor general prognosis due to the late stage of the systemic disease. Corticosteroids should be instigated promptly in order to prevent further systemic or ocular vasculitis.

First report of two Taiwanese siblings with sialidosis type I: A 10-year follow-up study

We report the clinical features, electrophysiological findings and genetic characteristics of the first two Taiwanese siblings ever reported with sialidosis type I. We also provide a 10-year follow-up result. Enzymological analysis revealed a primary sialidase deficit. The back-averaged electroencephalography demonstrated myoclonic jerk-related cortical activities and the somatosensory evoked potential studies revealed giant cortical components. During the 10-year follow-up, the brain magnetic resonance images of the younger brother remained normal, whereas they showed mild cerebellar atrophy in the older sister. Macular cherry red spots were absent in both siblings. However, visual evoked potential revealed progressively prolonged latencies of P100 bilaterally, which was consistent with progressive deterioration of the siblings' visions. DNA analysis showed that the siblings had a homozygous missense point mutation c.544A→G (Ser182Gly) in the exon 3 of the α- N-acetyl-neuraminidase ( NEU1) gene. The mutation is predicted to cause a decreased sialidase activity but the mutant sialidase can still be targeted to the lysosomes, which may correlate with the mild clinical phenotypes and absent cherry red spots in the siblings.

Natural history of Type A Niemann-Pick disease

To describe the disease course and natural history of Type A Niemann-Pick disease (NPD). Ten patients with NPD-A (six male, four female; age range at entry: 3 to 6 months) were serially evaluated including clinical neurologic, ophthalmologic, and physical examinations, and assessment of development. Laboratory analyses, abdominal and brain ultrasounds, and chest radiographs also were obtained and information on intercurrent illnesses and cause of mortality was collected. All affected infants had a normal neonatal course and early development. The first symptom detected in all patients was hepatosplenomegaly. Developmental age did not progress beyond 10 months for adaptive behavior, 12 months for expressive language, 9 months for gross motor skills, and 10 months for fine motor skills. Non-neurologic symptoms included frequent vomiting, failure to thrive, respiratory infections, irritability, and sleep disturbance. Neurologic examination at the time of presentation was normal in most patients. Later neurologic examinations revealed progressive hypotonia with loss of the deep tendon reflexes. All patients had cherry red spots by 12 months. The median time from diagnosis to death was 21 months. The cause of death was respiratory failure in nine patients and complications from bleeding in the tenth. The clinical course in Type A Niemann-Pick disease is similar among affected patients and is characterized by a relentless neurodegenerative course that leads to death, usually within 3 years.

A case of Niemann-Pick disease type A

Niemann-Pick disease is a group of autosomal recessive disorders associated with hepatosplenomegaly, variable neurologic deficits, and the storage of sphingomyelin and other lipids. Seven cases have been reported in Korea. We report an additional case presenting with hypotonia, early neurodevelopmental delay, hepatosplenomegaly and death by persistent pneumonia and asphyxia at the age of 23 months. MRI of brain and fundoscopic findings of our case at 4 months of age were normal. However, abnormal intensity of the thalamus and atrophy of the right temporal lobe on the MRI and macular cherry red spots were noticed at the age of 17 months. A bone marrow biopsy showed large foamy cells, while hexosaminidase A and B levels were normal. Although biochemical or molecular workup was not done, these findings led to the diagnosis of infantile onset Niemann-Pick disease, probably type A. A brief review of the related literatures was made

“Cherry-red spot” or “perifoveal white patch”?

The term “cherry red spot” is used to describe the ophthalmoscopic appearance of the retina in various neurometabolic disorders. The color of the normal fovea, red in Caucasians, contrasts with the surrounding retina, whose colour is altered by accumulation of metabolic products, causing retinal pallor. In this photo-essay, we present the fundus photographs of 3 patients of different race, all with metabolic disease, each of whose fovea contrasts with the surrounding retina, and for whom the expression “cherry red spot” is not necessarily accurate. We suggest that the term “perifoveal white patch” describes this characteristic finding more accurately. We also discuss the pathological entities that may produce this striking appearance, along with its histological and anatomical basis.

Percutaneous Trans-hepatic Obliteration for Bleeding Esophagojejunal Varices After Total Gastrectomy and Esophagojejunostomy

A 72-year-old man who had undergone a total gastrectomy with a Roux-en-Y esophagojejunostomy for gastric cancer 6 years earlier presented to our hospital with massive hematemesis and melena. Endoscopic examination indicated esophageal varices with cherry-red spots and hemorrhage arising from beyond the anastomosis. Abdominal contrast-enhanced computed tomography and angiography revealed a dilated vein in the elevated jejunal limb supplying the varices. Percutaneous trans-hepatic obliteration (PTO) of the varices through the jejunal vein was performed using microcoils, ethanolamine oleate, and gelatin sponge cubes. Ten days after the procedure, endoscopic examination revealed reduction and thrombosis of the varices. We consider PTO to be an effective alternative method for treating ruptured esophagojejunal varices after total gastrectomy.

Sialidosis tipo I: A propósito de dos casos en una familia

We present two cases of sialidosis type 1 in two brothers, 28 and 30 years of age. Both have seizures and severe gait instability. Ophthalmoscopic examination showed a cherry-red spot in both eyes. Fibroblast culture revealed a marked reduction in neuraminidase with no alteration in galactosidase, confirming that our patients have sialidosis type I. We highlight the ease with which this rare syndrome can remain undetected and how a simple ophthalmoscopic examination is able to reveal the diagnosis.