ArticleAmerican journal of ophthalmology case reports2022
Ocular characteristics of a 6-year-Old boy with molybdenum cofactor deficiency type B.
Article in American journal of ophthalmology case reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 4 citations in OpenAlex.
- Two mild phenotype molybdenum cofactor deficiency patients with novel MOCS2 mutation and immunological treatment after COVID-19 infection.BMC neurology · 2026Article
- Pediatric stroke in inborn errors of metabolism: clinical characteristics, neuroimaging features, and short-term outcomes.Frontiers in neurology · 2026Article
- A milder form of molybdenum cofactor deficiency type A presenting as Leigh's syndrome-like phenotype highlighting the secondary mitochondrial dysfunction: a case report.Frontiers in neurology · 2023Article
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4 authors at 1 institution in 1 country.
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Abstract
Purpose: To report a rare case of Molybdenum Cofactor Deficiency with novel ocular manifestations. Observations: This is a case study of a 6-year-old boy who initially presented with conjunctival hyperemia and ocular pain of the left eye. Medical history revealed refractory convulsion, global developmental delay, microcephaly, feeding difficulties, aphasia, and spastic quadriplegia, as well as pathogenic Conclusions and importance: MoCD as a rare genetic disease is tend to be easily neglected. The ophthalmic examination could provide important evidence for early diagnosis.
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