Optic neuropathy in late-onset neurodegenerative Chédiak–Higashi syndrome

Desai, Ninad; Weisfeld-Adams, James D.; Cho, Catherine; Curcio, Christine A.; Lublin, Fred; Rucker, Janet C.

doi:10.1136/bjophthalmol-2015-307012

Cited by 7 publications

(2 citation statements)

References 18 publications

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“…It is characterised by iris transillumination, foveal hypoplasia, chiasmal misrouting on visual-evoked potentials (VEPs) and variably reduced pigmentation of the fundus, hair and skin. OCA is a feature of certain syndromes including Hermansky–Pudlak syndrome (HPS, MIM#203300) associated with bleeding diathesis, pulmonary fibrosis and granulomatous colitis and Chediak–Higashi syndrome (MIM#214500) with immunodeficiency and neurological involvement 2 3…”

Section: Introductionmentioning

confidence: 99%

The ophthalmic presentation of Hermansky–Pudlak syndrome 6

et al. 2016

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Section: Introductionmentioning

confidence: 99%

The ophthalmic presentation of Hermansky–Pudlak syndrome 6

et al. 2016

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“…Clinically, patients may present with photophobia, nystagmus, and changes in visual acuity [1,6]. Vision loss may be progressive [8,9].…”

Section: Clinical Manifestationsmentioning

confidence: 99%

Chediak-Higashi syndrome

Talbert

Malicdan

Introne

2023

Current Opinion in Hematology

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Purpose of reviewChediak-Higashi syndrome is a rare autosomal recessive disorder characterized by congenital immunodeficiency, bleeding diathesis, pyogenic infection, partial oculocutaneous albinism, and progressive neurodegeneration. Treatment is hematopoietic stem cell transplantation or bone marrow transplantation; however, this does not treat the neurologic aspect of the disease. Mutations in the lysosomal trafficking regulator (LYST) gene were identified to be causative of Chediak-Higashi, but despite many analyses, there is little functional information about the LYST protein. This review serves to provide an update on the clinical manifestations and cellular defects of Chediak-Higashi syndrome. Recent findingsMore recent papers expand the neurological spectrum of disease in CHS, to include hereditary spastic paraplegia and parkinsonism. Granule size and distribution in NK cells have been investigated in relation to the location of mutations in LYST. Patients with mutations in the ARM/HEAT domain had markedly enlarged granules, but fewer in number. By contrast, patients with mutations in the BEACH domain had more numerous granules that were normal in size to slightly enlarged, but demonstrated markedly impaired polarization. The role of LYST in autophagosome formation has been highlighted in recent studies; LYST was defined to have a prominent role in autophagosome lysosome reformation for the maintenance of lysosomal homeostasis in neurons, while in retinal pigment epithelium cells, LYST deficiency was shown to lead to phagosome accumulation. SummaryDespite CHS being a rare disease, investigation into LYST provides an understanding of basic vesicular fusion and fission. Understanding of these mechanisms may provide further insight into the function of LYST.

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