Histology of the Retina in a Case of Tay-Sachs's Disease*

MacMILLAN, J. A.

doi:10.1016/s0002-9394(48)91295-1

Cited by 9 publications

(5 citation statements)

References 6 publications

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“…6 Although histopathology studies have not been reported for sialidosis and galactosialidosis, this was clearly described for Tay-Sachs disease. 28 On our literature review of 17 reported sialidosis cases including ophthalmological data, a macular cherry-red spot was often a key finding prompting further metabolic and molecular investigations which ultimately lead to an accurate molecular diagnosis. 4 16-27 As to other ophthalmological features, the data is conflicting.…”

Section: Discussionmentioning

confidence: 99%

“…6 Although histopathology studies have not been reported for sialidosis and galactosialidosis, this was clearly described for Tay-Sachs disease. 28 …”

Section: Discussionmentioning

confidence: 99%

“…40 Although the pathophysiology is different, in both cases, the abnormal reflectivity may result from intracellular accumulation of liquid (oedema) or lipids within the retinal GCL. 28 This becomes more noticeable in the perifovea due to the higher density of these cells in that area when compared to the rest of the retina and contrasts with the lack of inner retinal layers in the fovea, creating the cherry-red spot effect. 41 By OCT, this intracellular accumulation results in higher reflectivity.…”

Section: Discussionmentioning

confidence: 99%

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A sialidosis type I cohort and a quantitative approach to multimodal ophthalmic imaging of the macular cherry-red spot

et al. 2020

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AimTo describe the ophthalmologic findings on the largest cohort of patients with sialidosis type I due to deficiency of the lysosomal sialidase, neuraminidase 1 (NEU1) and to introduce a quantitative neuroretinal image analysis approach to the associated ‘macular cherry-red spot’.MethodsSeven patients with sialidosis type I (mutations in NEU1) and one with galactosialidosis (mutations in CTSA) were included. All patients underwent detailed ophthalmological examinations. The reflectivity of macular optical coherence tomography (OCT) was measured using greyscale analysis (Fiji) and compared with age-matched healthy volunteers. Four patients were evaluated over a time of 1.5+0.5 years.ResultsThe mean age of the patients at their first visit was 27.5+9.8 years. All patients had a macular cherry-red spot, clear corneas and visually non-significant lenticular opacities. The mean visual acuity was LogMar 0.4 (20/50)+0.4 (20/20 to 20/125). Six patients had good visual function. Optic atrophy was present in two individuals with reduced acuity. A significant increase in macular reflectivity was present in all patients compared to age-matched controls (p<0.0001).ConclusionMost of our patients (75%) have preserved visual acuity, even in adulthood. The presence of optic atrophy is associated with poor visual acuity. Increased macular reflectivity by OCT greyscale measurements is noted in all patients, although the underlying biological basis is unknown. These findings complement the current methods for examining and monitoring disease progression, especially in patients for whom visualisation of the cherry-red spot is not entirely clear.Trial registration numberNCT00029965.

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Section: Discussionmentioning

confidence: 99%

“…6 Although histopathology studies have not been reported for sialidosis and galactosialidosis, this was clearly described for Tay-Sachs disease. 28 …”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

A sialidosis type I cohort and a quantitative approach to multimodal ophthalmic imaging of the macular cherry-red spot

et al. 2020

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“…They have been found by Hagedoorn (1940) and by MacMillan (1948) in the cells of the inner nuclear layer. The changes in the glia and mesenchymal cells are secondary.…”

Section: Retinitis Circinatamentioning

confidence: 90%

Heredodegenerations and Heredoconstitutional Defects of the Retina

Elwyn¹

1955

Archives of Ophthalmology

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“…There is loss of Nissl substance. 11 Changes are most readily seen at the macula, where ganglion cells are in greatest number, but degeneration of ganglion cells throughout the retina is proportionately the same (Fig. 2).…”

Section: Commentmentioning

confidence: 97%