ArticleCureus2026
Bilateral Corneal Dystrophy Revealing Mucolipidosis Type IV: A Case Report.
Article in Cureus, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A nine-year-old boy, the only child of non-consanguineous parents, presented with progressive bilateral visual impairment and corneal clouding since birth. Ocular examination showed bilateral epithelial-stromal corneal dystrophy associated with photophobia, blepharospasm, alternating esotropia, and nystagmus. Visual acuity was limited to light perception in both eyes, with normal intraocular pressure. Anterior segment optical coherence tomography (OCT) demonstrated diffuse epithelial-stromal thickening with hyperreflective anterior stroma. Flash electroretinography (ERG) was normal, while flash visual evoked potentials (VEP) revealed bilateral optic neuropathy. Systemic examination noted severe psychomotor impairment, hypotonia, and facial dysmorphism. Whole-exome sequencing identified a homozygous nonsense mutation in MCOLN1 (c.169C>T p.Arg57*), confirming mucolipidosis type IV. Mucolipidosis type IV is a rare autosomal-recessive lysosomal storage disorder combining ocular and neurological manifestations. In children with congenital corneal opacity and developmental delay, metabolic and genetic evaluation should be systematically pursued. Corneal transplantation is not recommended because of recurrence risk; management is supportive and multidisciplinary.
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