Retinal Deposits in a Young Woman

Oliver, Ryan C.; Sallam, Ahmed; Uwaydat, Sami H.

doi:10.1001/jamaophthalmol.2017.5208

JAMA Ophthalmol

2018

DOI: 10.1001/jamaophthalmol.2017.5208

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Retinal Deposits in a Young Woman

Ryan C. Oliver

Ahmed Sallam

Sami H. Uwaydat

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Cited by 2 publications

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“…[1][2][3] The hypopigmented spots correlated with preretinal hyperreflective bodies seen on optical coherence tomography (Figure, B), likely representing glycolipid deposits. 4 Although similar findings have been previously documented, 5,6 this patient had an ultrawidefield fundus appearance with accompanying ocular coherence tomography scan showing more extensive deposits.…”

supporting

confidence: 86%

Posterior Segment Changes in Gaucher Disease

Mueller,

Chang

2024

JAMA Ophthalmol

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supporting

confidence: 86%

Posterior Segment Changes in Gaucher Disease

Mueller,

Chang

2024

JAMA Ophthalmol

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Ophthalmic manifestations of Gaucher disease: the most common lysosomal storage disorder

et al. 2019

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Gaucher disease (GD) results from a deficiency of glucocerebrosidase activity and the subsequent accumulation of the enzyme’s metabolites, principally glucosylsphingosine and glucosylceramide. There are three principal forms: Type I, which is the most common, is usually considered non-neuronopathic. Type II, III and IIIc manifest earlier and have neurological sequelae due to markedly reduced enzyme activity. Gaucher’s can be associated with ophthalmological sequelae but these have not been systematically reviewed. We therefore performed a comprehensive literature review of all such ophthalmic abnormalities associated with the different types of Gaucher disease. We systematically searched the literature (1950 – present) for functional and structural ocular abnormalities arising in patients with Gaucher disease and found that all subtypes can be associated with ophthalmic abnormalities; these range from recently described intraocular lesions to disease involving the adnexae, peripheral nerves and brain. In summary, Gaucher can affect most parts of the eye. Rarely is it sight-threatening; some but not all manifestations are amenable to treatment, including with enzyme replacement and substrate reduction therapy. Retinal involvement is rare but patients with ocular manifestations should be monitored and treated early to reduce the risk of progression and further complications. As Gaucher disease is also associated with Parkinsons disease and may also confer an increased risk of malignancy (particularly haematological forms and melanoma), any ocular abnormalities should be fully investigated to exclude these potential underlying conditions.

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Retinal Deposits in a Young Woman

Cited by 2 publications

References 6 publications

Posterior Segment Changes in Gaucher Disease

Posterior Segment Changes in Gaucher Disease

Ophthalmic manifestations of Gaucher disease: the most common lysosomal storage disorder

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